Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

desmoglein 4
CDHF13,  lah

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Not Significant
Not tested


The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Dsg4 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Dsg4 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Dsg4 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Hypotrichosis 9
Sparse scalp hair, Sparse body hair OMIM:614237
Hypotrichosis 1
Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Sparse eyebrow, Abnormality of the nai... OMIM:605389
Hypotrichosis 15
Sparse scalp hair OMIM:620177
Hypotrichosis 2
Sparse scalp hair OMIM:146520
Hypotrichosis Simplex
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair ORPHA:55654
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Hypotrichosis 11
Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo... OMIM:615059
Hypotrichosis 10
Sparse eyebrow, Sparse eyelashes, Sparse body hair OMIM:614238
Atrichia With Papular Lesions
Sparse hair OMIM:209500
Hypotrichosis 4
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair OMIM:146550
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis
Sparse hair OMIM:246500
Erythrokeratodermia Variabilis Et Progressiva 5
Abnormal hair morphology, Hyperkeratosis, Onychogryposis, Palmoplantar hyperkeratosis OMIM:617756
Graham Little-Piccardi-Lassueur Syndrome
Sparse scalp hair, Alopecia, Sparse axillary hair, Pruritus, Sparse pubic hair, Perifollicular hy... ORPHA:505
Hypotrichosis Simplex Of The Scalp
Abnormal eyebrow morphology, Sparse scalp hair, Parakeratosis, Epidermal acanthosis, Allergic rhi... ORPHA:90368
Ichthyosis-Hypotrichosis Syndrome
Sparse hair ORPHA:91132
Trichodysplasia-Xeroderma Syndrome
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... ORPHA:3361
Ectodermal Dysplasia 4, Hair/Nail Type
Absent eyebrow, Alopecia, Brittle hair, Hair-nail ectodermal dysplasia, Absent eyelashes, Onychol... OMIM:602032
Ectodermal Dysplasia 6, Hair/Nail Type
Sparse hair, Alopecia, Thin toenail, Dystrophic toenail OMIM:614928
Odonto-Onycho Dysplasia-Alopecia Syndrome
Alopecia, Abnormal fingernail morphology, Sparse eyebrow, Hypoplastic toenails, Palmoplantar kera... ORPHA:2722
Witkop Syndrome
Ridged nail, Concave nail, Nail pits, Fine hair, Small nail, Sparse hair OMIM:189500
Bathing Suit Ichthyosis
Alopecia, Parakeratosis, Epidermal acanthosis, Thickened skin, Palmoplantar hyperkeratosis, Hypoh... ORPHA:100976
Insulin-Resistance Syndrome Type A
Hyperkeratosis, Generalized hirsutism ORPHA:2297
Hypotrichosis 6
Brittle hair, Sparse eyelashes, Sparse eyebrow, Erythema, Sparse hair, Pili torti OMIM:607903
Woolly Hair, Autosomal Recessive 3
Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa OMIM:616760
Hair Defect With Photosensitivity And Mental Retardation
Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair, Cutaneous photosensitivity OMIM:234030
Erosive Pustular Dermatosis Of The Scalp
Abnormal hair morphology, Scarring alopecia of scalp, Erythema ORPHA:222
Anonychia With Flexural Pigmentation
Abnormal hair morphology, Hyperkeratosis, Alopecia of scalp, Follicular hyperkeratosis, Anonychia ORPHA:69125
Uncombable Hair Syndrome 3
Uncombable hair, Curly hair, Brittle hair, Pili canaliculi OMIM:617252
Ectodermal Dysplasia 9, Hair/Nail Type
Concave nail, Absent eyelashes, Nail dystrophy, Atrichia, Nail dysplasia, Sparse hair, Absent hair OMIM:614931
Peeling Skin Syndrome 3
Abnormal hair morphology, Erythema, White scaling skin OMIM:616265
Keratoderma Hereditarium Mutilans With Ichthyosis
Alopecia, Scaling skin on fingertip, Parakeratosis, Epidermal acanthosis, Hypergranulosis, Palmop... ORPHA:79395
Alopecia Universalis Congenita
Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis OMIM:203655
Hidrotic Ectodermal Dysplasia
Slow-growing nails, Palmoplantar hyperkeratosis, Absent pubic hair, Sparse hair, Hyperkeratotic p... ORPHA:189
Ectodermal Dysplasia/Skin Fragility Syndrome
Absent eyebrow, Anhidrosis, Absent eyelashes, Palmoplantar hyperkeratosis, Scaling skin, Nail dys... OMIM:604536
Quinquaud Folliculitis Decalvans
Abnormal hair morphology, Scarring alopecia of scalp, Erythema, Patchy alopecia ORPHA:346
Ichthyosis, Congenital, Autosomal Recessive 1
Alopecia, Parakeratosis, Epidermal acanthosis, Flexion contracture, Palmoplantar hyperkeratosis, ... OMIM:242300
Alopecia Areata 2
Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis OMIM:610753
Ichthyosis, Annular Epidermolytic, 1
Abnormal hair morphology, Hyperparakeratosis, Erythema, Palmoplantar hyperkeratosis, Congenital b... OMIM:607602
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... ORPHA:170
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia, Diffuse palmoplantar hyperkeratosis, Onychogryposis of toenails, Alopecia of scalp, Spa... OMIM:617294
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Sparse hair, Reduced terminal:vellus ratio, Pili torti OMIM:601553
Alopecia, Familial Focal
Patchy alopecia OMIM:104110
Pili Torti
Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ... ORPHA:2889
Alopecia Totalis
Alopecia, Alopecia of scalp ORPHA:700
Kerion Celsi
Alopecia, Recurrent cutaneous abscess formation, Inflammatory abnormality of the skin, Recurrent ... ORPHA:499
Ringed Hair Disease
Abnormal hair pattern, Fine hair ORPHA:169
Hypertrichosis Lanuginosa Congenita
Congenital, generalized hypertrichosis, Double eyebrow OMIM:145700
Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:158000
Alopecia-Intellectual Disability Syndrome 3
Alopecia universalis OMIM:613930
Alopecia-Intellectual Disability Syndrome 2
Alopecia universalis OMIM:610422
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Parakeratosis, Pruritus, Palmoplantar hyperkeratosis, Generalized reticulate brown pigmentation, ... ORPHA:158681
Osteopenia And Sparse Hair
Sparse hair OMIM:259690
Alopecia-Intellectual Disability Syndrome 1
Alopecia, Alopecia universalis OMIM:203650
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive
Pruritus, Alopecia, Plantar hyperkeratosis, Nail dystrophy OMIM:616487
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Congenital alopecia totalis, Epidermal acanthosis, Sparse eyebrow, Absent pubic hair, Cutis laxa,... ORPHA:2269
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Candidiasis, Familial, 1
Alopecia, Chronic mucocutaneous candidiasis OMIM:114580
Ichthyosis, Hystrix-Like, With Deafness
Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Scarring alopecia of scalp, Sparse eyebrow... OMIM:602540
Parana Hard Skin Syndrome
Hyperkeratosis, Generalized hirsutism, Thickened skin ORPHA:2812
Erythrokeratodermia Variabilis Et Progressiva 2
Erythema, Hypertrichosis OMIM:617524
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia, Perifolliculitis, Alopecia of scalp OMIM:260910
Bazex Syndrome
Parakeratosis, Pruritus, Yellow nails, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Na... ORPHA:166113
Ichthyosis With Confetti
Pruritus, Palmoplantar hyperkeratosis, Ichthyosis, Hypoplastic nipples, Scaling skin, Erythroderm... OMIM:609165
Angioma Serpiginosum, X-Linked
Sparse hair, Hyperkeratosis, Nail dystrophy, Fine hair OMIM:300652
Olmsted Syndrome 2
Parakeratosis, Epidermal acanthosis, Pruritus, Perioral hyperkeratosis, Cheilitis, Palmoplantar h... OMIM:619208
Palmoplantar Keratoderma And Congenital Alopecia 2
Alopecia totalis, Palmoplantar hyperkeratosis, Facial erythema, Hyperkeratosis, Nail dystrophy, N... OMIM:212360
Ichthyosis Hystrix Of Curth-Macklin
Recurrent skin infections, Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Nail dystrophy, I... ORPHA:79503
Acrokeratosis Verruciformis
Ridged nail, Epidermal acanthosis, Acrokeratosis, Punctate palmoplantar hyperkeratosis, Hyperkera... OMIM:101900
Netherton Syndrome
Sparse scalp hair, Failure to thrive, Brittle hair, Recurrent skin infections, Allergic rhinitis,... OMIM:256500
Alopecia Areata 1
Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis OMIM:104000
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h... ORPHA:573
Crandall Syndrome
Alopecia, Brittle hair, Fine hair, Pili torti, Sparse body hair, Aplasia/Hypoplasia of the eyebrow ORPHA:202
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Alopecia, Plantar hyperkeratosis, Hypermelanotic macule, Mixed hypo- and hyperpigmentation of the... ORPHA:79397
Dissecting Cellulitis Of The Scalp
Pruritus, Recurrent skin infections, Abnormal hair morphology ORPHA:345
Palmoplantar Keratoderma And Congenital Alopecia 1
Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair, Palmoplantar er... OMIM:104100
Alopecia Universalis
Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis ORPHA:701
Ectodermal Dysplasia 7, Hair/Nail Type
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Hair-nail ectodermal dysplasia, Abno... OMIM:614929
Uncombable Hair Syndrome 2
Uncombable hair, Pili canaliculi OMIM:617251
Hypertrichosis, Anterior Cervical
Anterior cervical hypertrichosis OMIM:600457
Hypertrichosis Universalis Congenita, Ambras Type
Congenital, generalized hypertrichosis OMIM:145701
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse axillary hair, Abnormal hair morpholo... ORPHA:1808
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Woolly hair, Palmoplantar keratoderma OMIM:610476
Krt1-Related Diffuse Nonepidermolytic Keratoderma
Concave nail, Diffuse palmoplantar hyperkeratosis, Erythema, Nonepidermolytic palmoplantar hyperk... ORPHA:530838
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Ridged nail, Abnormal fingernail morphology, Hyperpigmentation of the skin, Pruritus, Palmoplanta... ORPHA:89838
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome
Sparse or absent eyelashes, Pili torti, Aplasia/Hypoplasia of the eyebrow, Abnormality of hair te... ORPHA:2891
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Parakeratosis, Pruritus, Erythema, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Nail dy... OMIM:615821
Congenital Ichthyosiform Erythroderma
Alopecia, Keratitis, Pruritus, Hypohidrosis, Ichthyosis, Palmoplantar keratoderma, Erythroderma, ... ORPHA:79394
Olmsted Syndrome 1
Subungual hyperkeratosis, Autoamputation of digits, Parakeratosis, Pruritus, Flexion contracture,... OMIM:614594
Hypotrichosis 7
Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor... OMIM:604379
Familial Reactive Perforating Collagenosis
Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Abnormal fingern... ORPHA:79147
Ichthyosis Prematurity Syndrome
Epidermal acanthosis, Allergic rhinitis, Pruritus, Generalized ichthyosis, Follicular hyperkerato... OMIM:608649
Trichodental Dysplasia
Sparse hair, Brittle hair, Slow-growing hair, Fine hair OMIM:601453
Peeling Skin Syndrome 4
Epidermal acanthosis, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Scaling skin, Ich... OMIM:607936
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Plantar hyperkeratosis, Hypermelanotic macule, Mixed hypo- and hyperpigmentation of the skin, Pru... ORPHA:79399
Trichothiodystrophy 7, Nonphotosensitive
Brittle hair, Ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkerat... OMIM:618546
Acrokeratoderma, Hereditary Papulotranslucent
Fine hair OMIM:101840
Peeling Skin Syndrome 1
Brittle hair, Pruritus, Onycholysis, Nail dystrophy, Scaling skin, Erythroderma, Palmoplantar hyp... OMIM:270300
Dystrophic Epidermolysis Bullosa Pruriginosa
Scarring, Pruritus, Increased circulating IgE level, Hyperkeratosis, Atrophic scars, Nail dystrop... ORPHA:89843
Keratosis, Focal Palmoplantar And Gingival
Circumungual hyperkeratosis, Subungual hyperkeratosis, Gingival hyperkeratosis, Focal friction-re... OMIM:148730
Olmsted Syndrome, X-Linked
Subungual hyperkeratosis, Parakeratosis, Epidermal acanthosis, Alopecia totalis, Posterior blepha... OMIM:300918
Pili Torti-Onychodysplasia Syndrome
Absent eyebrow, Alopecia, Brittle hair, Congenital onychodystrophy, Eczema, Absent eyelashes, Gen... ORPHA:2890
Lipoid Proteinosis Of Urbach And Wiethe
Hyperkeratosis, Patchy alopecia, Reduced epidermal extracellular matrix protein 1 protein express... OMIM:247100
Ectodermal Dysplasia 13, Hair/Tooth Type
Brittle hair, Sparse eyelashes, Low anterior hairline, Ectodermal dysplasia, Thin eyebrow OMIM:617392
Classic Mycosis Fungoides
Alopecia, Skin rash, Eczema, Pruritus, Splenomegaly, Erythema, Hypopigmented skin patches, Skin u... ORPHA:2584
L-Ferritin Deficiency
Alopecia OMIM:615604
Erythrokeratodermia Variabilis
Alopecia, Skin rash, Hypermelanotic macule, Abnormal testis morphology, Tapered finger, Abnormal ... ORPHA:317
Generalized hypotrichosis OMIM:207780
Lamellar Ichthyosis
Pruritus, Lack of skin elasticity, Hyperkeratosis, Ichthyosis, Sparse hair, Erythroderma, Chronic... ORPHA:313
Clouston Syndrome
Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse eyebrow, Ab... OMIM:129500
Moynahan Syndrome
Sparse hair, Hyperkeratosis, Alopecia ORPHA:2574
Netherton Syndrome
Sparse scalp hair, Skin rash, Eczema, Sparse eyelashes, Sparse eyebrow, Abnormal hair morphology,... ORPHA:634
Björnstad Syndrome
Alopecia, Brittle hair ORPHA:123
Pili Torti, Early-Onset
Dry hair, Brittle hair, Coarse hair, Hair shafts flattened at irregular intervals and twisted thr... OMIM:261900
Hypertrichosis, Congenital Generalized
Congenital, generalized hypertrichosis, Hirsutism OMIM:307150
Parc Syndrome
Absent eyelashes, Absent eyebrow, Alopecia OMIM:600331
Idiopathic Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Lipoatrophy, Pruritus,... ORPHA:90158
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma
Parakeratosis, Hyperconvex nail, Linear arrays of macular hyperkeratoses in flexural areas, Honey... OMIM:601952
Schopf-Schulz-Passarge Syndrome
Ridged nail, Narrow nail, Thin nail, Poroma, Hyperkeratosis, Palmoplantar keratoderma, Onycholysi... OMIM:224750
Rothmund-Thomson Syndrome, Type 1
Absent eyebrow, Thin nail, Absent eyelashes, Hyperkeratosis, Sparse hair, Nail dystrophy, Recurre... OMIM:618625
Inflammatory Poikiloderma With Hair Abnormalities And Acral Keratoses
Sparse eyebrow, Sparse scalp hair, Absent eyebrow, Sparse eyelashes OMIM:620199
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Failure to thrive, Eczema, Absent peripheral lymph nodes in presence of infection, Abnormal immun... ORPHA:98813
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
Ridged nail, Nail pits, Congenital alopecia totalis ORPHA:169095
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Sparse scalp hair, Sparse eyelashes, Eczema, Slow-growing hair, Pruritus, Hypohidrosis, Palmoplan... OMIM:618535
Epidermolysis Bullosa Dystrophica, Pretibial
Pruritus, Hyperkeratosis, Nail dystrophy OMIM:131850
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Sparse hair, Woolly hair OMIM:278200
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Alopecia, Parakeratosis, Epidermal acanthosis, Sparse eyelashes, Thick hair, Pruritus, Sparse eye... OMIM:607626
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Hypohidrosis, Fine hair, Abno... ORPHA:248
Sabinas Brittle Hair Syndrome
Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:211390
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Alopecia totalis ORPHA:1014
Carvajal Syndrome
Woolly hair, Patchy palmoplantar hyperkeratosis ORPHA:65282
Ichthyosis, Congenital, Autosomal Recessive 11
Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Pruritus, Sparse eyebrow, Hypohidros... OMIM:602400
Sézary Syndrome
Alopecia, Abnormal immunoglobulin level, Pruritus, Splenomegaly, Lymphadenopathy, Palmoplantar ke... ORPHA:3162
Thumb Deformity And Alopecia
Alopecia OMIM:188150
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Sparse scalp hair, Abnormal eyelash morphology, Periodontitis, Sparse body hair, Alopecia univers... ORPHA:1008
Hypotrichosis 8
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... OMIM:278150
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Epidermal acanthosis, Angular cheilitis, Acantholysis, Pruritus, Punctate palmoplantar hyperkerat... OMIM:616295
Ectodermal Dysplasia 5, Hair/Nail Type
Sparse scalp hair, Dystrophic fingernails, Absent toenail OMIM:614927
Ulerythema Ophryogenesis
Acne, Facial erythema, Hyperkeratotic papule, Follicular hyperkeratosis, Dry skin, Contact dermat... ORPHA:3406
Hypotrichosis 13
Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology OMIM:615896
Palmoplantar Keratoderma And Woolly Hair
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Palmoplantar keratoderma, Wooll... OMIM:616099
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Brittle hair, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Progressive hypotric... OMIM:225060
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Alopecia, Sparse eyelashes, Acantholysis, Sparse eyebrow, Woolly hair, Palmoplantar hyperkeratosi... OMIM:605676
Psoriasis 14, Pustular
Parakeratosis, Psoriasiform dermatitis, Epidermal acanthosis, Cholangitis, Pustule, Erythema, Oli... OMIM:614204
Ichthyosis, Congenital, Autosomal Recessive 2
Anhidrosis, Alopecia, Epidermal acanthosis, Thin nail, Hypergranulosis, Abnormal hair morphology,... OMIM:242100
Bjornstad Syndrome
Alopecia, Brittle hair, Dry hair, Coarse hair, Hair shafts flattened at irregular intervals and t... OMIM:262000
Tooth Agenesis, Selective, 8
Sparse eyebrow, Sparse hair OMIM:617073
Naxos Disease
Sparse scalp hair, Curly hair, Abnormality of hair texture, Hyperhidrosis, Palmoplantar keratoder... ORPHA:34217
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
Epidermal acanthosis, Hypergranulosis, Yellow nails, Palmoplantar hyperkeratosis, Hyperhidrosis, ... OMIM:148700
Hypotrichosis And Recurrent Skin Vesicles
Sparse scalp hair, Sparse eyelashes, Epidermal acanthosis, Angular cheilitis, Sparse axillary hai... OMIM:613102
Centrifugal Lipodystrophy
Reduced subcutaneous adipose tissue, Alopecia, Inflammatory abnormality of the skin, Lipoatrophy,... ORPHA:90156
Pityriasis Rubra Pilaris
Subungual hyperkeratosis, Eczema, Pruritus, Pustule, Thickened skin, Ichthyosis, Palmoplantar ker... ORPHA:2897
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Alopecia, Palmoplantar keratoderma, Fingernail dysplasia, Sparse hair, Onychogryposis of fingerna... ORPHA:2251
Ectodermal Dysplasia-Syndactyly Syndrome 2
Hyperhidrosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ichthyosif... OMIM:613576
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Chronic oral candidiasis, Psoriasiform dermatitis, Failure to thrive in infancy, Decreased lympho... OMIM:606367
Hypotrichosis With Juvenile Macular Degeneration
Sparse scalp hair, Brittle hair, Pili torti, Fine hair ORPHA:1573
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Hypohidrosis, Sparse... OMIM:129490
Hypotrichosis 14
Sparse pubic hair, Short eyelashes, Absent axillary hair, Sparse hair, Sparse body hair OMIM:618275
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration of the esophagus, A... OMIM:615508
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Pruritic Urticarial Papules And Plaques Of Pregnancy
Parakeratosis, Pruritus, Pruritis on abdomen, Pruritus on foot, Increased body weight, Facial ery... ORPHA:64745
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
Sparse hair, Widow's peak, Atopic dermatitis, Thick eyebrow OMIM:606242
Vulvovaginal Gingival Syndrome
Ridged nail, Parakeratosis, Epidermal acanthosis, Pruritus, Erythema, Abnormality of tumor necros... ORPHA:83453
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Alopecia, Osteomyelitis, Recurrent skin infections, Eczema, Pruritus, Increased circulating IgE l... OMIM:618282
Keratosis Pilaris Atrophicans
Absent eyelashes, Erythema, Sparse eyebrow OMIM:604093
Ectodermal Dysplasia-Syndactyly Syndrome 1
Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h... OMIM:613573
Bullous Dystrophy, Hereditary Macular Type
Alopecia totalis, Abnormality of the nail OMIM:302000
Ichthyosis, Congenital, Autosomal Recessive 14
Pruritus, Erythema, Hyperkeratosis, Orthokeratotic hyperkeratosis, Scaling skin, Congenital nonbu... OMIM:617571
Progeroid Syndrome, Petty Type
Reduced subcutaneous adipose tissue, Brittle hair, Prematurely aged appearance, Redundant skin, A... ORPHA:2963
Palmoplantar Keratoderma, Nagashima Type
Epidermal acanthosis, Hypergranulosis, Palmoplantar hyperkeratosis, Orthokeratotic hyperkeratosis... OMIM:615598
Keratoderma Hereditarium Mutilans
Alopecia, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Ichthyosis, Abnormal toenail mor... ORPHA:494
Trichothiodystrophy 1, Photosensitive
Brittle hair, Flexion contracture, Sparse hair, Tiger tail banding, Decreased circulating IgG lev... OMIM:601675
Epidermolytic Palmoplantar Keratoderma
Epidermal acanthosis, Abnormal fingernail morphology, Hypergranulosis, Epidermal hyperkeratosis, ... ORPHA:2199
Alopecia-Intellectual Disability Syndrome 4
Ichthyosis, Alopecia, Erythroderma OMIM:618840
Mastocytosis, Cutaneous
Urticaria, Erythema, Edema, Telangiectasia macularis eruptiva perstans OMIM:154800
Acrokeratosis Verruciformis Of Hopf
Parakeratosis, Epidermal acanthosis, Hypergranulosis, Acantholysis, Punctate palmoplantar hyperke... ORPHA:79151
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Alopecia, Dry skin, Palmoplantar keratoderma, Scaling skin, Nail dystrophy, Alopecia of scalp OMIM:618373
Vibratory Urticaria
Urticaria, Facial erythema, Flushing OMIM:125630
Complex Regional Pain Syndrome
Abnormality of hair growth, Edema of the upper limbs, Slow-growing nails, Erythema, Pedal edema, ... ORPHA:83452
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Sparse hair, Coarse hair, Brittle hair, Hidrotic ectodermal dysplasia ORPHA:1883
Flynn-Aird Syndrome
Hyperkeratosis, Alopecia, Alopecia of scalp OMIM:136300
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Fragile nails, Fine hair ORPHA:500166
Palmoplantar Carcinoma, Multiple Self-Healing
Parakeratosis, Epidermal acanthosis, Ectodermal dysplasia, Palmoplantar keratoderma, Nail dystrop... OMIM:615225
Porokeratosis Plantaris Palmaris Et Disseminata
Porokeratosis, Pruritus, Palmoplantar hyperkeratosis, Hyperkeratotic papule, Generalized abnormal... ORPHA:737
Trichothiodystrophy 6, Nonphotosensitive
Tiger tail banding, Brittle hair, Slow-growing hair, Dry skin OMIM:616943
Kid Syndrome
Angular cheilitis, Posterior blepharitis, Scarring alopecia of scalp, Recurrent cutaneous fungal ... ORPHA:477
Lipoatrophy, Prematurely aged appearance, Telangiectasia of the skin, Small hand, Skin ulcer, Fin... ORPHA:2500
Trichothiodystrophy 5, Nonphotosensitive
Brittle hair, Slow-growing hair, Cutis marmorata, Progeroid facial appearance, Sparse eyebrow, Re... OMIM:300953
Lichen Planopilaris
Alopecia, Abnormal fingernail morphology, Pruritus, Hepatitis, Skin ulcer, Hyperkeratosis, Onycho... ORPHA:525
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Ridged nail, Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Sclerodactyly, Sparse eyebrow, ... ORPHA:1010
Verrucous Hemangioma
Inflammatory abnormality of the skin, Hyperkeratotic papule, Epidermal acanthosis ORPHA:464318
Cervical Hypertrichosis With Underlying Kyphoscoliosis
Anterior cervical hypertrichosis, Sacral hypertrichosis, Lumbar hypertrichosis, Thoracic hypertri... OMIM:117850
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Alopecia, Sparse eyelashes, Keratitis, Scarring alopecia of scalp, Sparse eyebrow, Facial erythem... OMIM:612843
Ichthyosis, Congenital, Autosomal Recessive 6
Parakeratosis, Epidermal acanthosis, Hypohidrosis, Hyperkeratosis, Palmoplantar keratoderma, Scal... OMIM:612281
Hidrotic Ectodermal Dysplasia, Halal Type
Sparse scalp hair, Absent eyebrow, Abnormal fingernail morphology, Supernumerary nipple, Absent e... ORPHA:1809
Cutaneous Mastocytoma
Maculopapular exanthema, Telangiectasia of the skin, Hypermelanotic macule, Pruritus, Thickened s... ORPHA:79455
Porokeratosis 3, Multiple Types
Parakeratosis, Porokeratosis, Nail dystrophy OMIM:175900
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Ridged nail, Alopecia, Nail dystrophy, Nail pits OMIM:601705
Axin2-Related Attenuated Familial Adenomatous Polyposis
Sparse hair ORPHA:401911
Odontoonychodermal Dysplasia
Ridged nail, Dry hair, Palmoplantar hyperkeratosis, Hyperhidrosis, Dystrophic fingernails, Thin n... OMIM:257980
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Abnormal fingernail morphology, Eczema, Hypohidrosis, Thin skin, Sparse hair, Sparse body hair ORPHA:1810
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Alopecia, Psoriasiform lesion, Increased circulating IgA level, Increased circulating IgE level, ... ORPHA:169154
Erythrokeratodermia Variabilis Et Progressiva 7
Woolly hair, Anhidrosis, Dystrophic toenail, Palmoplantar hyperkeratosis OMIM:619209
Pseudopelade Of Brocq
Sparse scalp hair, Alopecia, Recurrent skin infections, Abnormal hair morphology, Cheilitis, Abno... ORPHA:129
Aquagenic Palmoplantar Keratoderma
Abnormal phalangeal joint morphology of the hand, Excessive skin wrinkling on dorsum of hands and... ORPHA:498359
Porphyria Cutanea Tarda
Facial hypertrichosis, Scleroderma, Alopecia, Onycholysis OMIM:176100
Marie Unna Hereditary Hypotrichosis
Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e... ORPHA:444
Hypotrichosis 12
Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho... OMIM:615885
Basan Syndrome
Palmoplantar keratoderma, Epidermal acanthosis, Nail dystrophy, Palmoplantar hypohidrosis OMIM:129200
Ichthyosis Hystrix, Curth-Macklin Type
Hyperkeratotic papule, Palmoplantar keratoderma, Scaling skin OMIM:146590
Schöpf-Schulz-Passarge Syndrome
Sparse hair, Alopecia, Palmoplantar keratoderma, Aplasia/Hypoplasia of the eyebrow ORPHA:50944
Sparse scalp hair, Hypohidrosis, Thin skin, Fingernail dysplasia, Trichodysplasia, Dry skin, Toen... ORPHA:1660
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant
Brittle hair, Absent nipple, Hypohidrotic ectodermal dysplasia, Sparse hair, Dry skin, Absent hair OMIM:614940
Psoriasis 2
Parakeratosis, Psoriasiform dermatitis, Epidermal acanthosis, Hyperkeratosis, Scaling skin OMIM:602723
Woolly Hair, Autosomal Dominant
Abnormal eyebrow morphology, Dry hair, Slow-growing hair, Abnormal eyelash morphology, Palmoplant... OMIM:194300
Epidermolysis Bullosa, Junctional 1A, Intermediate
Plantar hyperkeratosis, Patchy alopecia, Nail dystrophy, Fragile nails, Palmar hyperhidrosis OMIM:226650
Trichothiodystrophy 9, Nonphotosensitive
Sparse eyebrow, Nail dystrophy, Ichthyosis, Sparse hair, Tiger tail banding OMIM:619692
Bazex-Dupre-Christol Syndrome
Eczema, Trichorrhexis nodosa, Atopic dermatitis, Hypohidrosis, Coarse hair, Sparse hair, Trichoep... OMIM:301845
Pachyonychia Congenita 2
Sparse scalp hair, Dry hair, Subungual hyperkeratosis, Angular cheilitis, Sparse eyebrow, Palmopl... OMIM:167210
X-Linked Dominant Chondrodysplasia Punctata
Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scalp, Ichthyosis, ... ORPHA:35173
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Predominantly dermal neutrophilic infiltrate, Parakeratosis, Superficial dermal perivascular infl... ORPHA:284426
Ectodermal Dysplasia-Skin Fragility Syndrome
Chapped lip, Recurrent skin infections, Pruritus, Recurrent pneumonia, Cheilitis, Hypohidrosis, P... ORPHA:158668
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Sparse scalp hair, Alopecia, Sparse eyebrow, Fine hair, Hypohidrosis, Dystrophic fingernails, Dys... ORPHA:1882
Ectodermal Dysplasia, Trichoodontoonychial Type
Abnormal eyelash morphology, Sparse hair, Abnormal toenail morphology, Sparse body hair, Aplasia/... ORPHA:1818
Acral Peeling Skin Syndrome
Eczema, Erythema, Scaling skin, Ichthyosis, Hyperpigmentation of the skin, Excessive wrinkling of... ORPHA:263534
Darier Disease
Acrokeratosis, Pruritus, Abnormal hair morphology, Thickened skin, Palmoplantar keratoderma, Skin... ORPHA:218
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Subungual hyperkeratosis, Eczema, Trichorrhexis nodosa, Scarring alopecia of scalp, Hypoplastic s... OMIM:617337
Palmoplantar Keratoderma, Norrbotten Recessive Type
Hyperkeratosis, Palmoplantar keratoderma, Recurrent cutaneous fungal infections OMIM:244850
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Recurrent loss of toenails and fingernails, Erythema, Telangiectasia, Thin skin, Cutaneous photos... ORPHA:158673
Cortisone Reductase Deficiency 1
Alopecia, Acne, Hirsutism OMIM:604931
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Alopecia totalis, Nail dystrophy, Palmoplantar keratoderma, Lack of skin elasticity ORPHA:1366
Inflammatory Skin And Bowel Disease, Neonatal, 2
Epidermal acanthosis, Pustule, Increased circulating IgE level, Recurrent pneumonia, Long eyelash... OMIM:616069
Idiopathic Trachyonychia
Ridged nail, Thin nail, Concave nail, Atopic dermatitis, Nail pits, Patchy alopecia, Nail dystrop... ORPHA:79153
Intermediate Generalized Junctional Epidermolysis Bullosa
Scarring alopecia of scalp, Palmoplantar keratoderma, Nail dystrophy, Anonychia, Sparse body hair ORPHA:79402
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Sparse hair, Fine hair ORPHA:1174
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Alopecia, Ichthyosis, Palmoplantar keratoderma, Conjunctivitis, Erythroderma, Sparse hair, Fragil... OMIM:242150
Hypotrichosis-Intellectual Disability, Lopes Type
Sparse hair ORPHA:2266
Hyperkeratosis-Hyperpigmentation Syndrome
Multiple cafe-au-lait spots, Hyperkeratosis, Irregular hyperpigmentation, Cutaneous photosensitivity ORPHA:1336
Ichthyosis, Congenital, Autosomal Recessive 13
Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis, Ichthyosis OMIM:617574
Trichohepatoenteric Syndrome 2
Brittle hair, Uncombable hair, Sparse hair, Woolly hair, Trichorrhexis nodosa OMIM:614602
Porokeratosis Of Mibelli
Pruritus, Hyperkeratosis, Cutaneous photosensitivity, Porokeratosis ORPHA:735
Pachyonychia Congenita
Alopecia, Angular cheilitis, Paronychia, Onychogryposis of toenails, Linear arrays of macular hyp... ORPHA:2309
Amelo-Onycho-Hypohidrotic Syndrome
Abnormal fingernail morphology, Hypoplastic toenails, Hypohidrosis, Fine hair, Hyperkeratosis, On... ORPHA:1028
Oliver-Mcfarlane Syndrome
Sparse hair, Alopecia, Long eyelashes, Long eyebrows OMIM:275400
Omenn Syndrome
Alopecia, Failure to thrive, Pneumonia, Pruritus, Thickened skin, Short toe, Splenomegaly, Thyroi... ORPHA:39041
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Alopecia, Sparse eyelashes, Sparse eyebrow, Hypohidrosis, Nail dysplasia, Erysipelas OMIM:615704
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1
Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ... OMIM:613000
Ichthyosis, Congenital, Autosomal Recessive 5
Parakeratosis, Epidermal acanthosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosifor... OMIM:604777
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Sparse eyelashes, Keratitis, Scarring alopecia of scalp, Sparse eyebrow, Facial erythema, Follicu... OMIM:308800
Erythrokeratodermia Variabilis Et Progressiva 3
Epidermal acanthosis, Hypergranulosis, Erythema, Leukonychia, Hyperkeratosis, Palmoplantar kerato... OMIM:617525
Trichothiodystrophy 4, Nonphotosensitive
Brittle hair, Sparse eyelashes, Concave nail, Abnormality of hair texture, Nail dystrophy, Small ... OMIM:234050
Peeling Skin Syndrome 5
Hyperkeratosis, Epidermal acanthosis, Scaling skin OMIM:617115
Pseudoprogeria Syndrome
Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Thin skin, Sparse hair ORPHA:2985
Trichodysplasia-Amelogenesis Imperfecta Syndrome
Alopecia of scalp, Trichodysplasia ORPHA:79129
Epidermolytic Hyperkeratosis 1
Epidermal acanthosis, Erythroderma, Palmoplantar hyperkeratosis, Scaling skin, Congenital bullous... OMIM:113800
Ichthyosis, Lamellar, Autosomal Dominant
Pruritus, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma OMIM:146750
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Recurrent skin infections, Increased circulati... OMIM:618944
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Hyperkeratosis, Epidermal acanthosis OMIM:615028
Angioma Serpiginosum
Erythema, Vascular skin abnormality ORPHA:95429
Peeling Skin Syndrome 6
Parakeratosis, Pruritus, Atopic dermatitis, Scaling skin, Orthokeratosis, Dry skin OMIM:618084
Hypohidrotic Ectodermal Dysplasia
Abnormal hair quantity, Sinusitis, Slow-growing hair, Eczema, Hypohidrosis, Aplasia/Hypoplasia of... ORPHA:238468
Acral Self-Healing Collodion Baby
Edema of the dorsum of feet, Edema of the dorsum of hands, Erythema, Lack of skin elasticity, Pal... ORPHA:281127
Cardiofaciocutaneous Syndrome 3
Hyperkeratosis, Curly hair, Hyperhidrosis, Webbed neck OMIM:615279
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Sparse scalp hair, Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Fingernail dys... ORPHA:2325
Hypodontia-Dysplasia Of Nails Syndrome
Abnormal fingernail morphology, Hypoplastic toenails, Fine hair, Thin toenail, Ridged fingernail,... ORPHA:2228
Hereditary Mucoepithelial Dysplasia
Sparse hair, Hyperkeratosis, Alopecia, Fine hair ORPHA:1839
Trichothiodystrophy 2, Photosensitive
Coarse hair, Tiger tail banding, Congenital nonbullous ichthyosiform erythroderma, Ichthyosis OMIM:616390
Immunodeficiency 58
Colitis, Scaling skin, Chronic otitis media, Recurrent cutaneous abscess formation, Psoriasiform ... OMIM:618131
Alopecia-Intellectual Disability Syndrome
Sparse scalp hair, Alopecia, Ichthyosis, Sparse body hair, Aplasia/Hypoplasia of the eyebrow ORPHA:2850
Palmoplantar Keratoderma, Epidermolytic, 1
Plantar hyperkeratosis, Increased circulating IgE level, Palmoplantar hyperkeratosis, Palmar hype... OMIM:144200
Ichthyosis, Congenital, Autosomal Recessive 10
Hypergranulosis, Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, General... OMIM:615024
Epidermolytic Hyperkeratosis 2
Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato... OMIM:620150
Hypotrichosis 5
Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Absent pubic hair, Thin eyebrow, Abs... OMIM:612841
Leopard Syndrome 3
Curly hair, Epidermal hyperkeratosis, Low posterior hairline, Hyperkeratosis, Webbed neck, Dry skin OMIM:613707
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Tongue edema, Palpebral edema, Pharyngeal edema, Facial edema, Laryngeal edema, Angioedema, Eryth... ORPHA:100057
Nicolaides-Baraitser Syndrome
Alopecia, Sandal gap, Eczema, Highly arched eyebrow, Curly eyelashes, Abnormal hair pattern, Cryp... ORPHA:3051
Mal De Meleda
Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate, Ep... ORPHA:87503
Autosomal Dominant Hyper-Ige Syndrome
Osteomyelitis, Skin rash, Eczema, Pruritus, Abnormal hair morphology, Paronychia, Increased circu... ORPHA:2314
Congenital Panfollicular Nevus
Pruritus, Hyperkeratosis ORPHA:139414
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Anhidrosis, Alopecia, Abnormal fingernail morphology, Thickened skin, Erythema, Skin ulcer, Palmo... ORPHA:659
Lupus Erythematosus Tumidus
Deep dermal perivascular inflammatory infiltrate, Scarring, Depigmentation/hyperpigmentation of s... ORPHA:90283
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Woolly hair, Palmoplantar keratoderma OMIM:611528
Focal Palmoplantar And Gingival Keratoderma
Subungual hyperkeratosis, Abnormal fingernail morphology, Focal friction-related palmoplantar hyp... ORPHA:2200
Erythrokeratodermia Variabilis Et Progressiva 6
Pruritus, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate OMIM:618531
Orthostatic Hypotensive Disorder, Streeten Type
Bruising susceptibility, Facial erythema OMIM:143850
Autosomal Dominant Epidermolytic Ichthyosis
Skin ulcer, Weight loss, Hyperkeratosis, Congenital bullous ichthyosiform erythroderma, Palmoplan... ORPHA:312
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Alopecia, Brittle hair ORPHA:50812
Syndromic X-Linked Intellectual Disability 7
Sparse body hair ORPHA:85274
Infantile Digital Fibromatosis
Hyperkeratosis, Parakeratosis, Epidermal acanthosis ORPHA:199267
Cutaneous Collagenous Vasculopathy
Prominent superficial blood vessels, Erythema, Diffuse telangiectasia, Bruising susceptibility, V... ORPHA:280779
Diffuse Cutaneous Mastocytosis
Mixed hypo- and hyperpigmentation of the skin, Pruritus, Thickened skin, Abnormality of the splee... ORPHA:79456
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Sparse hair, Alopecia, Long eyelashes ORPHA:3363
Congenital Disorder Of Glycosylation, Type Iq
Eczema, Cutis laxa, Hyperkeratosis, Ichthyosis, Dry skin, Hypertrichosis OMIM:612379
Epidermolysis Bullosa, Lethal Acantholytic
Alopecia totalis, Acantholysis, Absent fingernail, Anonychia, Alopecia universalis OMIM:609638
Menkes Disease
Sparse hair, Alopecia, Brittle hair, Cutis laxa OMIM:309400
Erythrokeratodermia Variabilis Et Progressiva 1
Epidermal acanthosis, Hypergranulosis, Patchy palmoplantar hyperkeratosis, Erythroderma, Generali... OMIM:133200
Prolidase Deficiency
Abnormality of retinal pigmentation, Arachnodactyly, Abnormal fingernail morphology, Pruritus, Sp... ORPHA:742
Dowling-Degos Disease 2
Reticular hyperpigmentation, Hyperkeratotic papule, Hypomelanotic macule, Follicular hyperkeratosis OMIM:615327
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
2-5 finger syndactyly, Parakeratosis, Absent middle phalanx of 3rd finger, Flexion contracture, C... OMIM:308050
Focal Facial Dermal Dysplasia Type I
Absent eyelashes, Low anterior hairline, Sparse hair, Distichiasis, Sparse lateral eyebrow ORPHA:79133
Ectodermal Dysplasia-Blindness Syndrome
Abnormal fingernail morphology, Skin ulcer, Fine hair, Hypohidrosis, Hyperkeratosis, Keratoconjun... ORPHA:1806
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis, Alopecia, Recurrent skin infections, Recurrent pneumonia, Pyoderma gangrenosu... OMIM:616576
Sparse hair, Fine hair ORPHA:2118
Choroidal Atrophy-Alopecia Syndrome
Abnormal fingernail morphology, Supernumerary nipple, Bifid nail, Fine hair, Sparse or absent eye... ORPHA:1433
Bazex-Dupré-Christol Syndrome
Sparse scalp hair, Sparse eyebrow, Sparse or absent eyelashes, Coarse hair, Sparse hair, Pili tor... ORPHA:113
Keratosis Palmoplantaris Striata Ii
Palmoplantar keratoderma, Epidermal acanthosis OMIM:612908
Copper Deficiency, Familial Benign
Curly hair, Early balding, Seborrheic dermatitis OMIM:121270
Neonatal Inflammatory Skin And Bowel Disease
Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Pustule, Erythema, Sca... ORPHA:294023
Focal Facial Dermal Dysplasia 3, Setleis Type
Sparse hair, Distichiasis, Low anterior hairline, Absent lower eyelashes OMIM:227260
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Alopecia, Glomerulonephritis, Eczema, Increased circulating IgE level, Hepatitis, Lymphadenopathy... OMIM:304790
Noonan Syndrome 8
Curly hair, Eczema, Large for gestational age, Cryptorchidism, Hyperkeratosis, Webbed neck, Palmo... OMIM:615355
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation
Alopecia, Ichthyosis OMIM:242510
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Alopecia, Sinusitis, Osteomyelitis, Skin rash, Abnormality... ORPHA:47
Inflammatory Skin And Bowel Disease, Neonatal, 1
Perianal erythema, Pustule, Paronychia, Increased circulating IgE level, Perioral erythema, Eryth... OMIM:614328
Chilblain Lupus
Inflammatory abnormality of the skin, Skin rash, Cutis marmorata, Discoid lupus rash, Skin ulcer,... ORPHA:90280
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Increased circulating IgE level, Bronchiectasis, Lymphadenopathy, He... OMIM:618982
Porphyria Cutanea Tarda
Recurrent bacterial skin infections, Viral hepatitis, Hyperpigmentation of the skin, Scarring, Po... ORPHA:101330
Trichothiodystrophy 8, Nonphotosensitive
Eczema, Sparse eyebrow, Cutis laxa, Sparse hair, Woolly hair, Trichorrhexis nodosa OMIM:619691
Naxos Disease
Curly hair, Subungual hyperkeratosis, Epidermal acanthosis, Acantholysis, Sparse eyebrow, Diffuse... OMIM:601214
Congenital Disorder Of Glycosylation, Type Im
Alopecia, Inflammatory abnormality of the skin, Sparse eyelashes, Sparse eyebrow, Hyperkeratosis,... OMIM:610768
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Inflammatory abnormality of the skin, Sinusitis, Absence of lymph node germinal center, Increased... ORPHA:277
Ichthyosis, Congenital, Autosomal Recessive 7
Epidermal acanthosis, Hypergranulosis, Erythroderma, Palmoplantar keratoderma, Ichthyosis OMIM:615022
Epidermolysis Bullosa Simplex 1C, Localized
Hyperkeratosis OMIM:131800
Pemphigus Foliaceus
Psoriasiform dermatitis, Acantholysis, Pruritus, Pustule, Crusting erythematous dermatitis, Eryth... ORPHA:79481
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Alopecia, Coarse hair, Brittle hair, Nail dystrophy ORPHA:75389
Cutaneous Photosensitivity And Colitis, Lethal
Early cutaneous photosensitivity, Erythema OMIM:219095
Jessner Lymphocytic Infiltration Of The Skin
Cutaneous photosensitivity, Erythema ORPHA:33314
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Hypopigmentation of hair, Thickened skin, Fine hair, Ichthyosis, Aca... ORPHA:2221
Atrophoderma Vermiculata
Pruritus, Abnormal epidermal morphology, Erythema, Atrophic scars, Follicular hyperkeratosis, Hyp... ORPHA:79100
Rhizomelic Chondrodysplasia Punctata
Alopecia, Dry skin, Sparse body hair, Ichthyosis ORPHA:177
Ichthyosis, Congenital, Autosomal Recessive 9
Epidermal acanthosis, Hypergranulosis, Hypohidrosis, Hyperkeratosis, Congenital nonbullous ichthy... OMIM:615023
Dowling-Degos Disease 4
Pruritus, Epidermal acanthosis, Hypergranulosis OMIM:615696
Recon Progeroid Syndrome
Arachnodactyly, Proximal placement of thumb, Progeroid facial appearance, Hyperconvex thumb nails... OMIM:620370
Fibrodysplasia Ossificans Progressiva
Alopecia ORPHA:337
Dry skin, Thin skin, Nail dysplasia, Trichodysplasia OMIM:125640
Ramon Syndrome
Hyperkeratosis, Generalized hirsutism ORPHA:3019
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis ORPHA:86923
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Tubulointerstitial nephritis, Colitis, Alopecia, Psoriasiform dermatitis, Hepatitis, Ly... ORPHA:37042
Ichthyosis, Annular Epidermolytic, 2
Erythema, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Ichthyosis, Orthok... OMIM:620148
Palmoplantar Keratoderma, Punctate Type Iii
Hyperkeratosis, Acrokeratosis OMIM:101850
Glycosylphosphatidylinositol Biosynthesis Defect 25
Sparse hair, Coarse hair OMIM:619985
Lipoid Proteinosis
Acne, Pustule, Thickened skin, Hyperkeratosis, Alopecia of scalp ORPHA:530
Hyperkeratosis, Thickened skin ORPHA:1659
Progressive Symmetric Erythrokeratodermia
Erythema ORPHA:316
Keratitis, Pruritus, Hyperparakeratosis, Hypopigmented skin patches, Atypical scarring of skin, H... ORPHA:182
Pityriasis Rubra Pilaris
Subungual hyperkeratosis, Parakeratosis, Hypergranulosis, Palmoplantar keratoderma, Orthokeratosis OMIM:173200
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Inguinal hernia, Erythema, Hyperkeratosis, Scaling skin, Congenital nonbullous ichthyosiform eryt... OMIM:614457
Erythrokeratodermia Variabilis Et Progressiva 4
Epidermal acanthosis, Erythema, Palmoplantar hyperkeratosis, Hyperkeratosis, Congenital nonbullou... OMIM:617526
Nicolaides-Baraitser Syndrome
Dry hair, Low anterior hairline, Short metatarsal, Prominent interphalangeal joints, Sparse hair,... OMIM:601358
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Small for gestational age, Eczema, Failure to thrive in infancy, Increased circulating IgE level,... OMIM:617241
Linear Atrophoderma Of Moulin
Pruritus, Scleroderma, Inflammatory abnormality of the skin, Linear hyperpigmentation ORPHA:140933
Palmoplantar Keratoderma-Deafness Syndrome
Hyperkeratosis, Palmoplantar keratoderma ORPHA:2202
Cardiofaciocutaneous Syndrome 2
Sparse hair, Curly hair, Absent eyebrow, Fine hair OMIM:615278
Lelis Syndrome
Yellow nails, Acanthosis nigricans, Absent lower eyelashes, Palmoplantar hyperkeratosis, Hypohidr... ORPHA:140936
Large hands, Thickened skin, Premature skin wrinkling, Progeroid facial appearance OMIM:221790
Ichthyosis Hystrix, Lambert Type
Hyperkeratosis, Orthokeratotic hyperkeratosis OMIM:146600
Woolly Hair Nevus
Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o... ORPHA:79414
Congenital Disorder Of Glycosylation, Type If
Flexion contracture, Dry skin, Hyperkeratosis, Scaling skin, Erythroderma, Failure to thrive OMIM:609180
Acquired Ichthyosis
Recurrent skin infections, Pruritus, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Ichthyos... ORPHA:454
Systemic Lupus Erythematosus 17
Alopecia, Malar rash, Optic neuritis, Myelitis OMIM:301080
Neonatal Lupus Erythematosus
Parakeratosis, Skin rash, Maculopapular exanthema, Splenomegaly, Malar rash, Hyperkeratosis, Cuta... ORPHA:398124
Cutis Laxa, Autosomal Recessive, Type Iia
Brittle hair, Redundant skin, Abnormality of hair texture, Cutis laxa, Excessive wrinkled skin, C... OMIM:219200
Ectodermal Dysplasia/Short Stature Syndrome
Epidermal acanthosis, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Anonychia OMIM:616029
Erythrokeratoderma ''En Cocardes''
Abnormality of skin pigmentation, Hyperkeratosis ORPHA:315
Keratolytic Winter Erythema
Erythema OMIM:148370
Uncombable Hair Syndrome 1
Uncombable hair, Dry hair, Pili canaliculi OMIM:191480
Aicardi-Goutieres Syndrome 5
Chilblains, Flexion contracture, Increased circulating interferon-gamma concentration, Scaling sk... OMIM:612952
Mal De Meleda
Perioral erythema, Fragile nails OMIM:248300
Panniculitis-Induced Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Erythema, Vasculitis in the skin ORPHA:90159
Erythema Of Acral Regions
Erythema OMIM:227000
Premature skin wrinkling, Erysipelas, Eczema, Cutis laxa ORPHA:228240
Dermatopathia Pigmentosa Reticularis
Alopecia of scalp, Nail dystrophy, Palmoplantar hyperkeratosis, Hypohidrosis OMIM:125595
Acute Generalized Exanthematous Pustulosis
Predominantly dermal neutrophilic infiltrate, Acantholysis, Pruritus, Pustule, Cheilitis, Lymphad... ORPHA:293173
Erythema Palmare Hereditarium
Erythema OMIM:133000
Benign Chronic Pemphigus
Erythema OMIM:169600
Epidermolysis Bullosa Simplex 2E, With Migratory Circinate Erythema
Erythema migrans OMIM:609352
Annular Erythema
Erythema OMIM:106500
Rapp-Hodgkin Syndrome
Decreased number of sweat glands, Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Spar... OMIM:129400
Erythema Nodosum, Familial
Erythema OMIM:132990
Alopecia Antibody Deficiency
Abnormal eyelash morphology, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Sparse body hair ORPHA:1006
Cutaneous Small Vessel Vasculitis
Urticaria, Erythema, Cutis marmorata, Purpura ORPHA:889
Brachycephaly, Trichomegaly, And Developmental Delay
Brittle hair, Highly arched eyebrow, Synophrys, Long eyelashes, Thick eyebrow OMIM:617412
Ifap Syndrome 2
Ichthyosis follicularis, Angular cheilitis, Keratitis, Posterior blepharitis, Keratoconjunctiviti... OMIM:619016
Trichothiodystrophy 3, Photosensitive
Tiger tail banding, Brittle hair, Cutaneous photosensitivity, Trichorrhexis nodosa OMIM:616395
Reticulate Acropigmentation Of Kitamura
Hyperkeratosis OMIM:615537
Microcephalic Primordial Dwarfism, Montreal Type
Abnormal hair quantity, Lipoatrophy, Prematurely aged appearance, Cryptorchidism, Dry skin, Low p... ORPHA:2617
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Skin rash, Increased circulating IgE level, Recurrent pneumonia, Erythema, Chronic mucocutaneous ... OMIM:147060
Pressure-Induced Localized Lipoatrophy
Reduced subcutaneous adipose tissue, Erythema ORPHA:90160
Griscelli Syndrome, Type 1
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... OMIM:214450
Xq27.3Q28 Duplication Syndrome
Sparse body hair ORPHA:261483
White Sponge Nevus 2
Hyperparakeratosis, Epidermal acanthosis OMIM:615785
Heyn-Sproul-Jackson Syndrome
Sparse hair OMIM:618724
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Pneumonia, Splenomegaly, I... OMIM:602450
Chronic Actinic Dermatitis
Late onset atopic dermatitis, Progressive hyperpigmentation, Epidermal acanthosis, Eczema, Allerg... ORPHA:330064
Dowling-Degos Disease
Inguinal freckling, Abnormal fingernail morphology, Mixed hypo- and hyperpigmentation of the skin... ORPHA:79145
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Hypopigmentation of hair ORPHA:1067
Autoimmune Lymphoproliferative Syndrome, Type Iii
Alopecia, Generalized lymphadenopathy, Reduced natural killer cell activity, Follicular hyperplas... OMIM:615559
Proteus Syndrome
Epidermal acanthosis, Splenomegaly, Depigmentation/hyperpigmentation of skin, Multiple lipomas, H... OMIM:176920
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Alopecia OMIM:203550
X-Linked Hypohidrotic Ectodermal Dysplasia
Sparse hair, Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Hypohidrosis ORPHA:181
Non-Epidermolytic Palmoplantar Keratoderma
Erythema, Skin ulcer ORPHA:2337
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Parakeratosis, Epidermal acanthosis, Hyperkeratosis, Ichthyosis, Acanthosis nigricans, Dry skin OMIM:618527
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Inguinal hernia, Superficial dermal perivascular inflammatory infiltrate, Epidermal acanthosis, E... ORPHA:83617
Porphyria Cutanea Tarda, Type I
Eczema, Hypertrichosis OMIM:176090
Sting-Associated Vasculopathy, Infantile-Onset
Nailfold capillary tortuosity, Myositis, Failure to thrive, Skin rash, Cutis marmorata, Increased... OMIM:615934
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Recurrent bacterial skin infections, Sparse eyelashes, Trichiasis, Keratitis, Sparse eyebrow, Abs... OMIM:148210
Papillon-Lefèvre Syndrome
Recurrent cutaneous abscess formation, Severe periodontitis, Recurrent skin infections, Abnormal ... ORPHA:678
Drug-Induced Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Erythema ORPHA:90157
Vohwinkel Syndrome, Variant Form
Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Orthokerat... OMIM:604117
Cardiofaciocutaneous Syndrome 4
Absent eyebrow, Curly hair, Sparse eyelashes, Palmoplantar hyperkeratosis, Hyperhidrosis, Sparse ... OMIM:615280
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Absent eyebrow, Brittle hair, Absent nipple, Sparse eyelashes, Concave nail, Absent eyelashes, Sp... OMIM:305100
Epidermolysis Bullosa Acquisita
Pruritus, Abnormal hair morphology, Atypical scarring of skin, Inflammation of the large intestin... ORPHA:46487
Hypopigmentation of hair, Prematurely aged appearance, Telangiectasia of the skin, Decreased circ... ORPHA:100
Hydroa Vacciniforme
Erythema, Hydroa vacciniforme, Telangiectasia of the skin, Cutaneous photosensitivity ORPHA:330058
Maculopapular Cutaneous Mastocytosis
Erythema, Darier's sign, Dermatographic urticaria, Generalized abnormality of skin, Flushing ORPHA:79457
Focal Facial Dermal Dysplasia Type Iii
Sparse lower eyelashes, Redundant skin, Highly arched eyebrow, Abnormal hair pattern, Prematurely... ORPHA:1807
Acute Radiation Syndrome
Inflammatory abnormality of the skin, Skin ulcer, Telangiectasia, Hyperkeratosis, Interstitial pn... ORPHA:454831
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Generalized lymphadenopathy, Uveitis, Inflammation of the large intestine, Co... OMIM:614700
Bleeding Disorder, Platelet-Type, 21
Alopecia, Psoriasiform dermatitis, Eczema OMIM:617443
Cardiofaciocutaneous Syndrome
Brittle hair, Redundant skin, Sparse hair, Dystrophic fingernails, Abnormal morphology of ulna, A... ORPHA:1340
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Sparse eyebrow, Brittle hair, Polyhydramnios OMIM:618810
Incontinentia Pigmenti
Ridged nail, Uveitis, Abnormality of skin pigmentation, Coarse hair, Pallor, Sparse hair, Atrophi... OMIM:308300
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Failure to thrive, Sparse facial hair, Small for gestational age, Sparse axillary hair, Progeroid... OMIM:608154
Abnormal hair quantity, Osteomyelitis, Acne, Abnormal fingernail morphology, Abnormal hair patter... ORPHA:2796
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Ichthyosis, Acan... ORPHA:59303
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans OMIM:144150
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Reduced subcutaneous adipose tissue, Absent eyebrow, Alopecia, Membranoproliferative glomerulonep... OMIM:137940
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Increased circulating IgE level, Atopic dermatitis, Bronchiectasis, Ulcerative colitis... OMIM:617638
Craniofaciofrontodigital Syndrome
Prominent superficial veins, Thick hair, Large for gestational age, Low anterior hairline, Cutis ... ORPHA:363705
Tooth Agenesis, Selective, 4
Sparse scalp hair, Sparse eyebrow, Hypohidrosis, Short eyelashes, Thin skin, Palmar hyperkeratosi... OMIM:150400
Tricho-Retino-Dento-Digital Syndrome
Uncombable hair, Sparse hair ORPHA:1264
Graft Versus Host Disease
Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, Du... ORPHA:39812
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Ichthyosis follicularis, Scaling skin, Atrichia, Periungual erythema, Dystrophic fingernails, Abs... OMIM:308205
Cronkhite-Canada Syndrome
Alopecia, Generalized hyperpigmentation, Abnormal fingernail morphology, Cachexia, Tapered finger... ORPHA:2930
Peeling Skin Syndrome 2
Erythema, Scaling skin OMIM:609796
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Alopecia, Lipoatrophy, Increased subcutaneous trunc... ORPHA:2457
Leopard Syndrome 2
Curly hair, Dry skin, Webbed neck OMIM:611554
Gand Syndrome
Sparse hair OMIM:615074
Huriez Syndrome
Congenital palmoplantar hyperkeratosis, Epidermal acanthosis, Nail dystrophy, Small nail OMIM:181600
Pachyonychia Congenita 1
Follicular hyperkeratosis, Nail dystrophy, Palmoplantar hyperkeratosis, Onychogryposis OMIM:167200
Mandibuloacral Dysplasia With Type B Lipodystrophy
Alopecia, Decreased adipose tissue around neck, Brittle hair, Prominent superficial veins, Proger... OMIM:608612
Fg Syndrome 3
Sparse hair, Frontal upsweep of hair, Fine hair OMIM:300406
Transgrediens Et Progrediens Palmoplantar Keratoderma
Recurrent bacterial skin infections, Plantar hyperkeratosis, Angular cheilitis, Hyperconvex nail,... ORPHA:495
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... ORPHA:42665
Dermatofibrosarcoma Protuberans
Erythema, Skin ulcer ORPHA:31112
Severe Combined Immunodeficiency, X-Linked
Failure to thrive, Skin rash, Pneumonia, Reduced natural killer cell activity, Recurrent pneumoni... OMIM:300400
Jaberi-Elahi Syndrome
Brittle hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Sparse hair OMIM:617988
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Hypopigmentation of the skin, Alopecia, Recurrent skin infections, Scarring, Hyperpigmentation of... ORPHA:79396
Immunodeficiency, Common Variable, 11
Failure to thrive, Increased circulating IgE level, Clubbing of fingers, Inflammation of the larg... OMIM:615767
Alpha-Heavy Chain Disease
Alopecia ORPHA:100025
Mucoepithelial Dysplasia, Hereditary
Alopecia, Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctivitis... OMIM:158310
Rhizomelic Chondrodysplasia Punctata, Type 1
Alopecia, Ichthyosis OMIM:215100
Lethal Acantholytic Erosive Disorder
Absent eyebrow, Acantholysis, Absent eyelashes, Absent toenail, Absent fingernail, Congenital alo... ORPHA:158687
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Increased circulating interleukin 8 concentration, Failure to thrive in infancy, Cutis marmorata,... OMIM:301220
Omenn Syndrome
Alopecia, Pneumonia, Thickened skin, Splenomegaly, Lymphadenopathy, Hypoplasia of the thymus, Ery... OMIM:603554
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Lipoatrophy, Thin skin, Sparse hair, Failure to thrive, Hypopigmentation of the skin, Aplasia/Hyp... ORPHA:261304
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Reduced subcutaneous adipose tissue, Lipodystrophy, Lipoatrophy, Cachexia, Abnormal hair morpholo... ORPHA:1979
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development
Hyperkeratosis, Parakeratosis OMIM:618339
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent bacterial skin infections, Pneumonia, Increased circulating IgE level, Atopic dermatiti... ORPHA:217390
Adult Syndrome
Sparse scalp hair, Alopecia, Absent nipple, Skin ulcer, Fine hair, Nail pits, Hypoplastic nipples... ORPHA:978
Immunodeficiency 103, Susceptibility To Fungal Infections
Deep dermatophytosis, Increased circulating IgE level, Lymphadenopathy, Chronic oral candidiasis OMIM:212050
Amaurosis-Hypertrichosis Syndrome
Abnormal eyelash morphology, Synophrys, Coarse hair, Thick eyebrow ORPHA:1021
Lichen Planus Pemphigoides
Pruritus, Hyperkeratosis, Conjunctivitis, Skin vesicle, Blepharitis, Abnormality of the nail ORPHA:254478
Weaver Syndrome
Deep-set nails, Abnormal fingernail morphology, Redundant skin, Thin nail, Hypoplastic toenails, ... ORPHA:3447
Zinc Deficiency, Transient Neonatal
Alopecia, Eczema OMIM:608118
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Eczema, Keratitis, Increased circulating IgE level, Clubbing, Bronchiectasis, Recurrent otitis me... OMIM:618523
Sjögren-Larsson Syndrome
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Abnormal dental enamel morpho... ORPHA:816
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Brittle hair, Cutis marmorata OMIM:236200
Porokeratosis 7, Multiple Types
Parakeratosis, Porokeratosis OMIM:614714
Porokeratosis 1, Multiple Types
Parakeratosis, Porokeratosis OMIM:175800
Hypotrichosis 3
Abnormal eyelash morphology, Sparse scalp hair, Abnormality of the nail, Abnormal sweat gland mor... OMIM:613981
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Alopecia, Hypohidrosis, Hyperkeratosis, Ichthyosis, Sparse hair, Abnormal toenail morphology ORPHA:1005
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Hyperhidrosis, High anterior hairline, Long eyelashes, Fine hair ORPHA:231137
Trichodermodysplasia-Dental Alterations Syndrome
Sparse scalp hair, Brittle hair, Fine hair, Sparse or absent eyelashes, Aplasia/Hypoplasia of the... ORPHA:3353
Hereditary Bullous Dystrophy, Macular Type
Alopecia, Congenital abnormal hair pattern, Pneumonia, Tapered finger, Cryptorchidism, Spotty hyp... ORPHA:1867
X-Linked Intellectual Disability, Golabi-Ito-Hall Type
Dry hair, Brittle hair, Nail dystrophy ORPHA:93947
Pituitary Adenoma 4, Acth-Secreting
Striae distensae, Poor wound healing, Edema, Facial erythema, Thin skin, Ecchymosis, Bruising sus... OMIM:219090
Osteopenia-Intellectual Disability-Sparse Hair Syndrome
Sparse scalp hair, Fine hair ORPHA:2324
Keratolytic Winter Erythema
Erythema ORPHA:50943
Myoclonic-Astatic Epilepsy
Syndactyly, Premature skin wrinkling, Frontal balding ORPHA:1942
Elastosis Perforans Serpiginosa
Hyperkeratotic papule, Crusting erythematous dermatitis, Epidermal acanthosis, Cutis laxa ORPHA:79148
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Absent eyebrow, Sparse scalp hair, Absent nipple, Sparse eyelashes, Anhidrosis, Absent eyelashes,... OMIM:614941
Hypergonadotropic Hypogonadism And Partial Alopecia
Alopecia OMIM:241090
Linear Verrucous Nevus Syndrome
Hyperkeratosis, Sparse scalp hair ORPHA:2611
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Sparse scalp hair, Alopecia, Absent eyebrow, Abnormal sweat gland morphology, Absent eyelashes, T... OMIM:607823
Odontotrichoungual-Digital-Palmar Syndrome
Nail dystrophy, Nail dysplasia, Abnormality of hair texture OMIM:601957
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Alopecia, Highly arched eyebrow, Synophrys, Palmoplantar hyperkeratosis, Hypohidrosis, Dystrophic... ORPHA:3253
Intellectual Developmental Disorder, Fra12A Type
Hyperkeratosis, Erythroderma OMIM:136630
Costello Syndrome
Deep-set nails, Abnormal fingernail morphology, Redundant skin, Concave nail, Abnormal hair morph... ORPHA:3071
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Long toe, Sparse scalp hair, Sparse eyelashes, Arachnodactyly, Lipodystrophy, Progeroid facial ap... ORPHA:75496
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome
Hyperkeratotic papule, Palmoplantar keratoderma, Leukonychia, Palmoplantar hyperkeratosis ORPHA:2698
Congenital Short Bowel Syndrome
Sparse hair ORPHA:2301
Hypomelanosis Of Ito
Alopecia OMIM:300337
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Plantar telangiectasia, Sparse scalp hair, Alopecia, Absent eyebrow, Cutis marmorata, Predominant... ORPHA:69735
Hoyeraal-Hreidarsson Syndrome
Sparse scalp hair, Generalized hyperpigmentation, Premature graying of hair, Excessive wrinkled s... ORPHA:3322
Ige Responsiveness, Atopic
Increased circulating IgE level, Eczema, Allergic rhinitis OMIM:147050
Congenital Lethal Erythroderma
Congenital exfoliative erythroderma, Dry skin, Urticaria, Ichthyosis, Failure to thrive ORPHA:1954
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Recurrent skin infections, Increased circulating IgE level, Recurrent pneumonia, Bronchiectasis, ... OMIM:619752
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities
Sparse hair OMIM:273390
Short Syndrome
Inguinal hernia, Prominent superficial veins, Lipodystrophy, Lipoatrophy, Small for gestational a... OMIM:269880
Hydrocephalus-Obesity-Hypogonadism Syndrome
Sparse facial hair, Absent facial hair, Low posterior hairline ORPHA:2183
Sulfite Oxidase Deficiency, Isolated
Eczema, Fine hair OMIM:272300
Self-Improving Dystrophic Epidermolysis Bullosa
Abnormality of the subungual region, Gastrointestinal inflammation, Abnormality of skin pigmentat... ORPHA:79411
Lmna-Related Cardiocutaneous Progeria Syndrome
Absent eyebrow, Lipoatrophy, Absent eyelashes, Premature graying of hair, Sparse hair, Scleroderm... ORPHA:363618
Chondrodysplasia Punctata, Autosomal Dominant
Sparse hair, Hyperkeratosis with erythema, Coarse hair OMIM:118650
Ridged nail, Congenital exfoliative erythroderma, Brittle hair, Multiple joint contractures, Conj... ORPHA:33364
Epidermolysis Bullosa, Junctional 5A, Intermediate
Absent pubic hair, Nail dystrophy, Absent axillary hair, Onycholysis of distal fingernails, Alope... OMIM:619816
Chondrodysplasia Punctata 2, X-Linked Dominant
Rhizomelia, Sparse eyelashes, Postaxial polydactyly, Sparse eyebrow, Congenital ichthyosiform ery... OMIM:302960
Poikiloderma With Neutropenia
Plantar hyperkeratosis, Skin rash, Sparse eyebrow, Splenomegaly, Recurrent pneumonia, Reticular h... OMIM:604173
Eem Syndrome
Sparse scalp hair, Absent eyebrow, Sparse body hair ORPHA:1897
Familial Cold Autoinflammatory Syndrome 3