Not currently registered for phenotyping at IMPC

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

Gene Summary

keratin 10
suprabasal cytokeratin 10,  Krt-1.10,  Krt1-10,  cytokeratin 10,  K1C1,  K10,  D130054E02Rik,  keratin 10

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 Krt10 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 Krt10 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Krt10 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Ringed Hair Disease
Abnormal hair pattern, Fine hair ORPHA:169
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Uncombable Hair Syndrome 3
Pili canaliculi, Brittle hair, Uncombable hair, Curly hair OMIM:617252
Woolly Hair, Autosomal Recessive 3
Fine hair, Trichorrhexis nodosa, Sparse eyelashes, Curly hair, Sparse hair, Sparse scalp hair OMIM:616760
Palmoplantar Keratoderma, Epidermolytic, 2
Curly hair OMIM:620411
Porokeratosis Plantaris Palmaris Et Disseminata
Hyperkeratotic papule, Porokeratosis, Generalized abnormality of skin, Palmoplantar hyperkeratosi... ORPHA:737
Pruritic Urticarial Papules And Plaques Of Pregnancy
Pruritus on foot, Erythematous papule, Eczematoid dermatitis, Urticarial plaque, Pruritis on brea... ORPHA:64745
Discoid Fibromas, Familial Multiple
Abnormal hair morphology OMIM:190340
Ringed Hair
Abnormal hair morphology OMIM:180600
Hairy Nose Tip
Abnormal hair morphology OMIM:139630
Ulerythema Ophryogenesis
Hyperkeratotic papule, Erythematous papule, Dry skin, Dermal atrophy, Facial erythema, Follicular... ORPHA:3406
Porokeratosis Of Mibelli
Porokeratosis, Aplasia/Hypoplasia of the skin, Hyperkeratosis, Pruritus, Cutaneous photosensitivity ORPHA:735
Palmoplantar Keratoderma, Norrbotten Recessive Type
Recurrent cutaneous fungal infections, Papule, Palmoplantar keratoderma, Hyperkeratosis OMIM:244850
Uncombable Hair Syndrome 2
Pili canaliculi, Uncombable hair OMIM:617251
Darier Disease
Thickened skin, Plantar pits, Palmoplantar keratoderma, Subungual hyperkeratotic fragments, Skin ... ORPHA:218
Ichthyosis, Congenital, Autosomal Recessive 14
Erythema, Orthokeratotic hyperkeratosis, Scaling skin, Pruritus, Hyperkeratosis, Congenital nonbu... OMIM:617571
Epidermolysis Bullosa Simplex 1C, Localized
Milia, Hyperkeratosis OMIM:131800
Hyperkeratosis-Hyperpigmentation Syndrome
Multiple cafe-au-lait spots, Papule, Cutaneous photosensitivity, Hyperkeratosis ORPHA:1336
Erythrokeratodermia Variabilis Et Progressiva 4
Erythema, Palmoplantar hyperkeratosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythr... OMIM:617526
Diffuse Palmoplantar Keratoderma, Bothnian Type
Erythema, Skin ulcer, Diffuse palmoplantar hyperkeratosis, Pruritus, Papule ORPHA:2337
Familial Benign Chronic Pemphigus
Erythema, Skin erosion, Skin vesicle, Acantholysis, Hyperkeratosis ORPHA:2841
Progressive Symmetric Erythrokeratodermia
Skin plaque, Erythema, Palmoplantar keratoderma ORPHA:316
Hypotrichosis 4
Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Uncombable hair, Sparse scalp hair OMIM:146550
Congenital Panfollicular Nevus
Skin nodule, Hyperkeratosis, Verrucous papule ORPHA:139414
Atrophoderma Vermiculata
Hyperkeratotic papule, Erythema, Hypoplastic pilosebaceous units, Atrophic scars, Skin pit, Peria... ORPHA:79100
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Erythema migrans, Skin vesicle, Parakeratosis, Skin fragility with non-scarring blistering, Pruritus ORPHA:158681
Acquired Ichthyosis
Erythema, Palmoplantar keratoderma, Dry skin, Recurrent skin infections, Ichthyosis, Pruritus, Pa... ORPHA:454
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Hyperkeratotic papule, Atypical scarring of skin, Localized skin lesion, Keloids, Erythematous pa... ORPHA:79410
Ichthyosis, Lamellar, Autosomal Dominant
Pruritus, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma OMIM:146750
Reticulate Acropigmentation Of Kitamura
Hyperkeratosis, Macule OMIM:615537
Ichthyosis Hystrix, Curth-Macklin Type
Hyperkeratotic papule, Palmoplantar keratoderma, Fragile skin, Scaling skin OMIM:146590
Uncombable Hair Syndrome
Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Pemphigus Foliaceus
Erythema, Skin erosion, Psoriasiform dermatitis, Erythematous plaque, Crusting erythematous derma... ORPHA:79481
Keratosis, Focal Palmoplantar And Gingival
Gingival hyperkeratosis, Subungual hyperkeratosis, Focal friction-related palmoplantar hyperkerat... OMIM:148730
Krt1-Related Diffuse Nonepidermolytic Keratoderma
Erythema, Palmoplantar blistering, Decreased movement range in interphalangeal joints, Dry skin, ... ORPHA:530838
Ichthyosis, Congenital, Autosomal Recessive 13
Ichthyosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Hypergranulosis OMIM:617574
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1
Follicular hyperkeratosis, Perioral hyperkeratosis, Palmoplantar keratoderma, Congenital bullous ... OMIM:613000
Mal De Meleda
Erythema, Inflammatory abnormality of the skin, Palmoplantar keratoderma, Ichthyosis, Lichenoid s... ORPHA:87503
Dowling-Degos Disease
Hyperkeratotic papule, Palmar pits, Erythematous papule, Epidermoid cyst, Acne inversa, Generaliz... ORPHA:79145
Erythrokeratodermia Variabilis Et Progressiva 2
Skin plaque, Erythema, Palmoplantar keratoderma OMIM:617524
Uncombable Hair Syndrome 1
Dry hair, Pili canaliculi, Uncombable hair OMIM:191480
Palmoplantar Keratoderma, Punctate Type Iii
Acrokeratosis, Hyperkeratosis OMIM:101850
Lichen Planus Pemphigoides
Skin vesicle, Pruritus, Hyperkeratosis ORPHA:254478
Aquagenic Palmoplantar Keratoderma
Atopic dermatitis, Palmoplantar keratoderma, Orthokeratotic hyperkeratosis, White papule, Skin pl... ORPHA:498359
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema ORPHA:86923
Dowling-Degos Disease 2
Hyperkeratotic papule, Follicular hyperkeratosis, Hypomelanotic macule OMIM:615327
Insulin-Resistance Syndrome Type A
Subcutaneous nodule, Hyperkeratosis ORPHA:2297
Ichthyosis, Annular Epidermolytic, 2
Erythema, Skin erosion, Orthokeratosis, Palmoplantar keratoderma, Ichthyosis, Palmoplantar hyperk... OMIM:620148
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Fragile skin, Hyperkeratosis OMIM:615028
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Hypermelanotic macule, Pruritus, Milia, Hypomelanotic macule, Spotty hypopigmentation, Palmar hyp... ORPHA:79399
Iga Pemphigus
Skin erosion, Cutaneous abscess, Generalized abnormality of skin, Neutrophilic infiltration of th... ORPHA:555905
Ichthyosis, Annular Epidermolytic, 1
Erythema, Skin erosion, Orthokeratosis, Hyperparakeratosis, Erythematous plaque, Ichthyosis, Palm... OMIM:607602
Palmoplantar Keratoderma And Congenital Alopecia 2
Dry skin, Facial erythema, Palmoplantar hyperkeratosis, Hyperkeratosis, Sclerodactyly OMIM:212360
Erythrokeratoderma ''En Cocardes''
Papule, Hyperkeratosis ORPHA:315
Acrokeratoderma, Hereditary Papulotranslucent
Fine hair OMIM:101840
Thickened skin, Hyperkeratosis ORPHA:1659
Ichthyosis With Erythrokeratoderma
Erythema, Palmoplantar keratoderma, Congenital ichthyosiform erythroderma, Diffuse palmoplantar h... OMIM:620507
Ichthyosis Hystrix, Lambert Type
Orthokeratotic hyperkeratosis, Hyperkeratosis OMIM:146600
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans OMIM:144150
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Erythrokeratodermia Variabilis Et Progressiva 5
Palmoplantar hyperkeratosis, Hyperkeratosis OMIM:617756
Palmoplantar Keratoderma, Nagashima Type
Hypergranulosis, Orthokeratotic hyperkeratosis, Palmoplantar hyperhidrosis, Palmoplantar hyperker... OMIM:615598
Palmoplantar Keratoderma-Deafness Syndrome
Palmoplantar keratoderma, Hyperkeratosis ORPHA:2202
Elastosis Perforans Serpiginosa
Hyperkeratotic papule, Erythematous papule, Skin-colored papule, Crusting erythematous dermatitis... ORPHA:79148
Ichthyosis, Congenital, Autosomal Recessive 8
Erythema, Orthokeratosis, Hypergranulosis, Ichthyosis, Hyperkeratosis OMIM:613943
Verrucous Hemangioma
Skin plaque, Hyperkeratotic papule, Inflammatory abnormality of the skin ORPHA:464318
Epidermolysis Bullosa Dystrophica, Pretibial
Atrophic scars, Pruritus, Hyperkeratosis OMIM:131850
Peeling Skin Syndrome 5
Epidermal acanthosis, Hyperkeratosis, Scaling skin OMIM:617115
Classic Mycosis Fungoides
Erythema, Hypopigmented skin patches, Skin ulcer, Eczematoid dermatitis, Dry skin, Skin rash, Ski... ORPHA:2584
Anonychia With Flexural Pigmentation
Hypermelanotic macule, Follicular hyperkeratosis, Hyperkeratosis, Macular telangiectasia ORPHA:69125
Superficial Epidermolytic Ichthyosis
Erythema, Palmoplantar keratoderma, Ichthyosis, Acantholysis, Thin skin ORPHA:455
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Skin erosion, Nevus, Atrophic scars, Milia, Palmoplantar hyperkeratosis, Aplasia cutis congenita ... ORPHA:89838
Hypotrichosis 6
Erythema, Pruritus, Follicular hyperkeratosis OMIM:607903
Mal De Meleda
Ichthyosis, Congenital symmetrical palmoplantar keratosis, Perioral erythema OMIM:248300
Chand Syndrome
Nail dysplasia, Curly hair OMIM:214350
Angioma Serpiginosum, X-Linked
Sparse hair, Nail dystrophy, Fine hair OMIM:300652
Vulvovaginal Gingival Syndrome
Erythema, Skin erosion, Pruritus, Parakeratosis ORPHA:83453
Trichodysplasia-Xeroderma Syndrome
Alopecia, Coarse hair, Sparse eyebrow, Sparse body hair, Trichorrhexis nodosa, Trichodysplasia, P... ORPHA:3361
Marie Unna Hereditary Hypotrichosis
Alopecia, Coarse hair, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Sparse scal... ORPHA:444
Ichthyosis Hystrix Of Curth-Macklin
Diffuse palmoplantar hyperkeratosis, Recurrent skin infections, Hyperkeratosis, Ichthyosis ORPHA:79503
Acrokeratosis Verruciformis
Verrucous papule, Acrokeratosis, Punctate palmoplantar hyperkeratosis, Acantholysis, Hyperkeratosis OMIM:101900
Alopecia, Nail dystrophy, Nail dysplasia, Brittle hair, Abnormality of hair texture, Sparse hair OMIM:158000
Jessner Lymphocytic Infiltration Of The Skin
Erythema, Skin plaque, Pruritus, Papule, Cutaneous photosensitivity ORPHA:33314
Hyperkeratosis Lenticularis Perstans
Skin ulcer, Hyperkeratosis lenticularis perstans, Aplasia/Hypoplasia of the skin, Pruritus, Papule ORPHA:409
Peeling Skin Syndrome 4
Orthokeratosis, Palmoplantar keratoderma, Ichthyosis, Scaling skin, Epidermal acanthosis, Hyperke... OMIM:607936
Erythrokeratodermia Variabilis Et Progressiva 3
Erythema, Orthokeratosis, Palmoplantar keratoderma, Hypergranulosis, Hyperkeratosis OMIM:617525
Autosomal Dominant Epidermolytic Ichthyosis
Palmoplantar keratoderma, Skin ulcer, Ichthyosis, Erythroderma, Hyperkeratosis, Congenital bullou... ORPHA:312
Keratoderma Hereditarium Mutilans With Ichthyosis
Orthokeratosis, Palmoplantar keratoderma, Honeycomb palmoplantar hyperkeratosis, Hypergranulosis,... ORPHA:79395
Erythrokeratodermia Variabilis
Erythema, Dry skin, Patchy palmoplantar hyperkeratosis, Skin rash, Hyperkeratosis, Macule, Hyperm... ORPHA:317
Woolly Hair Nevus
Congenital posterior occipital alopecia, Fine hair, Woolly scalp hair, Curly hair, Patchy hypopig... ORPHA:79414
Cutaneous Mastocytoma
Erythema, Thickened skin, Telangiectasia macularis eruptiva perstans, Dermatographic urticaria, E... ORPHA:79455
Chilblain Lupus
Discoid lupus rash, Inflammatory abnormality of the skin, Erythematous papule, Skin ulcer, Cutis ... ORPHA:90280
Ichthyosis, Congenital, Autosomal Recessive 10
Palmoplantar keratoderma, Hypergranulosis, Orthokeratotic hyperkeratosis, Erythroderma, Generaliz... OMIM:615024
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Erythema, Dermal atrophy, Milia, Erythematous plaque, Telangiectasia, Crusting erythematous derma... ORPHA:158673
Familial Reactive Perforating Collagenosis
Hyperkeratotic papule, Inflammatory abnormality of the skin, Erythematous papule, Crusting erythe... ORPHA:79147
Dystrophic Epidermolysis Bullosa Pruriginosa
Atrophic scars, Milia, Dermal atrophy, Skin plaque, Pruritus, Subcutaneous nodule, Papule, Hyperk... ORPHA:89843
Epidermolytic Hyperkeratosis 2A, Autosomal Dominant
Palmoplantar keratoderma, Generalized hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplant... OMIM:620150
Epidermolytic Hyperkeratosis 1
Congenital bullous ichthyosiform erythroderma, Epidermal acanthosis, Palmoplantar hyperkeratosis,... OMIM:113800
Hair Defect With Photosensitivity And Impaired Intellectual Development
Sparse eyebrow, Coarse hair, Sparse eyelashes, Brittle hair, Sparse hair OMIM:234030
Acral Peeling Skin Syndrome
Erythema, Skin erosion, Eczematoid dermatitis, Excessive wrinkling of palmar skin, Ichthyosis, Ma... ORPHA:263534
Woolly Hair
Sparse lateral eyebrow, Fine hair, Sparse body hair, Slow-growing hair, Brittle hair, Abnormality... ORPHA:170
Ichthyosis, Congenital, Autosomal Recessive 6
Orthokeratosis, Palmoplantar keratoderma, Dry skin, Parakeratosis, Epidermal acanthosis, Scaling ... OMIM:612281
Transgrediens Et Progrediens Palmoplantar Keratoderma
Thickened skin, Erythematous plaque, Lichenoid skin lesion, Diffuse palmoplantar hyperkeratosis, ... ORPHA:495
Sabinas Brittle Hair Syndrome
Dry hair, Nail dystrophy, Nail dysplasia, Brittle hair, Sparse hair OMIM:211390
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Erythema, Palmoplantar keratoderma, Ichthyosis, Parakeratosis, Pruritus, Hyperkeratosis OMIM:615821
Keratosis Palmoplantaris Striata Ii
Epidermal acanthosis, Palmoplantar keratoderma OMIM:612908
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome
Abnormality of hair texture, Sparse or absent eyelashes, Pili torti, Aplasia/Hypoplasia of the ey... ORPHA:2891
Woolly Hair, Autosomal Dominant
Dry hair, Coarse hair, Abnormal eyebrow morphology, Slow-growing hair, Abnormal eyelash morpholog... OMIM:194300
Woolly Hair-Skin Fragility Syndrome
Acantholysis, Palmoplantar keratoderma, Fragile skin OMIM:620415
Erosive Pustular Dermatosis Of The Scalp
Pustule, Erythema, Skin erosion, Scarring alopecia of scalp ORPHA:222
Bathing Suit Ichthyosis
Thickened skin, Autoamputation of digits, Ichthyosis, Parakeratosis, Palmoplantar hyperkeratosis,... ORPHA:100976
Pili Torti
Alopecia, Abnormal eyebrow morphology, Pili torti, Brittle hair, Abnormality of hair texture, Abn... ORPHA:2889
Acute Generalized Exanthematous Pustulosis
Predominantly dermal neutrophilic infiltrate, Pustule, Skin vesicle, Eosinophilic dermal infiltra... ORPHA:293173
Pili Torti, Early-Onset
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Co... OMIM:261900
Erythema Elevatum Diutinum
Skin nodule, Skin vesicle, Skin rash, Vasculitis in the skin ORPHA:90000
Lipoid Proteinosis Of Urbach And Wiethe
Thickened skin, Skin erosion, Skin plaque, Papule, Hyperkeratosis OMIM:247100
Sjögren-Larsson Syndrome
Erythema, Dry skin, Ichthyosis, Hyperkeratosis, Urticaria ORPHA:816
Cutaneous Collagenous Vasculopathy
Erythema, Bruising susceptibility, Vascular skin abnormality, Petechiae, Skin rash, Diffuse telan... ORPHA:280779
Parana Hard Skin Syndrome
Thickened skin, Hyperkeratosis ORPHA:2812
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Dry skin, Fragile skin, Follicular hyperkeratosis, Scaling skin, Punctate palmoplantar hyperkerat... OMIM:616295
Ichthyosis, Congenital, Autosomal Recessive 3
Erythema, Palmoplantar keratoderma, Ichthyosis, Hyperkeratosis, Congenital nonbullous ichthyosifo... OMIM:606545
Vibratory Urticaria
Facial erythema, Dermatographic urticaria, Flushing, Urticaria OMIM:125630
Infantile Digital Fibromatosis
Skin nodule, Parakeratosis, Hyperkeratosis ORPHA:199267
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Erythema, Dry skin, Ichthyosis, Death in childhood, Scaling skin, Hyperkeratosis, Congenital nonb... OMIM:614457
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Woolly hair, Sparse hair OMIM:278200
Psoriasis 2
Parakeratosis, Epidermal acanthosis, Hyperkeratosis, Scaling skin OMIM:602723
Darier-White Disease
Palmar pits, Plantar pits, Subungual hyperkeratotic fragments, Acrokeratosis, Pruritus, Acantholy... OMIM:124200
Hypotrichosis And Recurrent Skin Vesicles
Skin vesicle, Follicular hyperkeratosis OMIM:613102
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Generalized hyperkeratosis, Dry skin, Cutis laxa, Epidermal acanthosis, Scaling skin, Generalized... ORPHA:2269
Peeling Skin Syndrome 6
Atopic dermatitis, Orthokeratosis, Dry skin, Parakeratosis, Scaling skin, Pruritus OMIM:618084
Epidermolytic Palmoplantar Keratoderma
Interphalangeal joint contracture of finger, Hypergranulosis, Diffuse palmoplantar hyperkeratosis... ORPHA:2199
Pemphigus Erythematosus
Localized skin lesion, Skin erosion, Focal dermal aplasia/hypoplasia, Hypopigmented skin patches,... ORPHA:79480
Graham Little-Piccardi-Lassueur Syndrome
Pruritus, Perifollicular hyperkeratosis ORPHA:505
Cutaneous Small Vessel Vasculitis
Erythema, Cutis marmorata, Recurrent skin infections, Skin rash, Subcutaneous nodule, Papule, Pur... ORPHA:889
Ichthyosis, Congenital, Autosomal Recessive 5
Orthokeratosis, Palmoplantar keratoderma, White scaling skin, Parakeratosis, Palmar hyperlinearit... OMIM:604777
Recessive X-Linked Ichthyosis
Dry skin, Hyperkeratosis, Ichthyosis ORPHA:461
Idiopathic Localized Lipodystrophy
Erythema, Inflammatory abnormality of the skin, Reduced subcutaneous adipose tissue, Scleroderma,... ORPHA:90158
Ichthyosis With Confetti
Ichthyosis, Decreased body weight, Palmoplantar hyperkeratosis, Scaling skin, Congenital nonbullo... OMIM:609165
Pemphigoid Gestationis
Skin vesicle, Pruritus ORPHA:63275
Erythrokeratodermia Variabilis Et Progressiva 6
Parakeratosis, Pruritus, Erythematous plaque, Superficial dermal perivascular inflammatory infilt... OMIM:618531
Pressure-Induced Localized Lipoatrophy
Skin nodule, Erythema, Inflammatory abnormality of the skin, Reduced subcutaneous adipose tissue ORPHA:90160
Necrobiosis Lipoidica
Erythema, Indurated nodule, Inflammatory abnormality of the skin, Skin ulcer, Skin nodule, Atroph... ORPHA:542592
Peeling Skin Syndrome 3
Erythema, White scaling skin, Pruritus OMIM:616265
Trichothiodystrophy 7, Nonphotosensitive
Follicular hyperkeratosis, Cutaneous photosensitivity, Ichthyosis, Congenital nonbullous ichthyos... OMIM:618546
Dermatitis, Atopic
Atopic dermatitis, Eczematoid dermatitis, Dry skin, Pallor, Ichthyosis, Facial erythema, Pruritus... OMIM:603165
Dermatofibrosarcoma Protuberans
Erythema, Subcutaneous nodule, Skin ulcer, Thickened skin ORPHA:31112
Ichthyosis, Congenital, Autosomal Recessive 11
Sparse eyebrow, Sparse body hair, Curly eyelashes, Curly hair, Sparse eyelashes, Pili torti, Brit... OMIM:602400
Palmoplantar Keratoderma And Congenital Alopecia 1
Plantar hyperkeratosis, Palmoplantar erythema, Palmoplantar keratoderma, Epidermal hyperkeratosis OMIM:104100
Bazex Syndrome
Palmoplantar keratoderma, Parakeratosis, Acanthosis nigricans, Scaling skin, Hyperkeratosis ORPHA:166113
Angioma Serpiginosum
Erythema, Macule, Vascular skin abnormality ORPHA:95429
Cardiofaciocutaneous Syndrome 2
Sparse hair, Absent eyebrow, Fine hair, Curly hair OMIM:615278
Naxos Disease
Abnormality of hair texture, Woolly hair, Sparse scalp hair, Curly hair ORPHA:34217
Dermatitis Herpetiformis
Erythema, Eczematoid dermatitis, Skin vesicle, Macule, Pruritus, Urticaria ORPHA:1656
Erythema Of Acral Regions
Erythema, Talipes equinovarus OMIM:227000
Hydroa Vacciniforme
Papulovesicular eruption, Erythema, Eczematoid dermatitis, Malar rash, Hydroa vacciniforme, Super... ORPHA:330058
Panniculitis-Induced Localized Lipodystrophy
Erythema, Inflammatory abnormality of the skin, Reduced subcutaneous adipose tissue, Vasculitis i... ORPHA:90159
Hypotrichosis 7
Abnormal sweat gland morphology, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse axill... OMIM:604379
Lichen Planopilaris
Hypopigmented skin patches, Skin ulcer, Dermal atrophy, Pruritus, Papule, Hyperkeratosis ORPHA:525
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Acne inversa, Chronic furunculosis, Perifolliculitis, Follicular hyperkeratosis, Recurrent cutane... OMIM:613736
Hypotrichosis Simplex Of The Scalp
Parakeratosis, Epidermal acanthosis, Hyperkeratosis, Scaling skin ORPHA:90368
Alopecia-Intellectual Disability Syndrome 1
Alopecia universalis, Alopecia OMIM:203650
Quinquaud Folliculitis Decalvans
Pustule, Erythema, Scarring alopecia of scalp, Recurrent skin infections ORPHA:346
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Hypotrichosis 12
Abnormal sweat gland morphology, Sparse pubic hair, Dry hair, Sparse or absent eyelashes, Sparse ... OMIM:615885
Maculopapular Cutaneous Mastocytosis
Erythema, Dermatographic urticaria, Generalized abnormality of skin, Macule, Pruritus, Darier's s... ORPHA:79457
Hypotrichosis 13
Abnormal sweat gland morphology, Sparse hair, Woolly hair, Sparse eyelashes OMIM:615896
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Folliculitis, Palmoplantar keratoderma, Dry skin, Facial erythema, Scarring alopecia of scalp, Fo... OMIM:308800
Cutaneous Photosensitivity And Colitis, Lethal
Erythema, Early cutaneous photosensitivity, Death in infancy OMIM:219095
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Hyperkeratotic papule, Milia, Hypomelanotic macule, Spotty hypopigmentation, Palmar hyperkeratosi... ORPHA:79397
Acrokeratoelastoidosis Of Costa
Hyperkeratotic papule, Orthokeratosis, Hypergranulosis, Piezogenic pedal papules, Palmoplantar hy... ORPHA:38
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Palmoplantar keratoderma, Palmoplantar scaling skin, Death in early adulthood, Death in adolescen... OMIM:605676
Palmoplantar Keratoderma And Woolly Hair
Sparse eyebrow, Sparse body hair, Leukonychia, Sparse eyelashes, Woolly hair, Sparse scalp hair OMIM:616099
Variegate Porphyria, Childhood-Onset
Atopic dermatitis, Skin erosion, Milia, Fragile skin, Cutaneous photosensitivity, Epidermal hyper... OMIM:620483
Peeling Skin Syndrome 2
Erythema, Scaling skin OMIM:609796
Warty Dyskeratoma
Localized skin lesion, Erythematous papule, Skin-colored papule, Acrokeratosis, Epidermal thicken... ORPHA:69745
Crandall Syndrome
Alopecia, Fine hair, Sparse body hair, Brittle hair, Pili torti, Aplasia/Hypoplasia of the eyebrow ORPHA:202
Localized Epidermolysis Bullosa Simplex
Skin erosion, Erythematous papule, Atrophic scars, Milia, Focal friction-related palmoplantar hyp... ORPHA:79400
Fine hair, Abnormal eyebrow morphology, Patchy alopecia, Slow-growing hair, Brittle hair, Abnorma... ORPHA:573
Wells Syndrome
Skin vesicle, Pruritus ORPHA:901
Intellectual Developmental Disorder, Fra12A Type
Hyperkeratosis, Erythroderma OMIM:136630
Ichthyosis, Congenital, Autosomal Recessive 2
Erythema, Palmoplantar keratoderma, Short toe, Congenital ichthyosiform erythroderma, Short finge... OMIM:242100
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hypopigmented skin patches, Multiple lentigines, Hypermelanotic macule, Hyperkeratosis, Cafe-au-l... OMIM:145250
Erythema Nodosum, Familial
Erythema, Erythema nodosum OMIM:132990
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Facial telangiectasia in butterfly midface distribution, Telangiectasia of extensor surfaces, Red... OMIM:137940
Pemphigus Vulgaris
Atypical scarring of skin, Urticarial plaque, Acantholysis, Recurrent cutaneous abscess formation... ORPHA:704
Vohwinkel Syndrome, Variant Form
Orthokeratosis, Honeycomb palmoplantar hyperkeratosis, Hypergranulosis, Parakeratosis, Hyperkerat... OMIM:604117
Ectodermal Dysplasia/Skin Fragility Syndrome
Palmoplantar blistering, Ectodermal dysplasia, Palmoplantar hyperkeratosis, Fragile skin, Scaling... OMIM:604536
Björnstad Syndrome
Alopecia, Brittle hair ORPHA:123
Acral Self-Healing Collodion Baby
Erythema, Localized epidermolytic hyperkeratosis, Palmoplantar scaling skin, Lack of skin elasticity ORPHA:281127
Mastocytosis, Cutaneous
Erythema, Telangiectasia macularis eruptiva perstans, Hypermelanotic macule, Urticaria OMIM:154800
Acrokeratosis Verruciformis Of Hopf
Hypergranulosis, Skin-colored papule, Punctate palmoplantar hyperkeratosis, Skin plaque, Hyperker... ORPHA:79151
Familial Keratoacanthoma
Subcutaneous nodule, Papule, Hyperkeratosis, Skin ulcer ORPHA:493
Hypotrichosis 8
Sparse eyebrow, Dry hair, Coarse hair, Fair hair, Ridged nail, Sparse eyelashes, Sparse axillary ... OMIM:278150
Pityriasis Rubra Pilaris
Subungual hyperkeratosis, Orthokeratosis, Palmoplantar keratoderma, Hypergranulosis, Erythematous... OMIM:173200
Irida Syndrome
Ichthyosis, Pallor, Hyperkeratosis ORPHA:209981
Pityriasis Rubra Pilaris
Thickened skin, Subungual hyperkeratosis, Palmoplantar keratoderma, Eczematoid dermatitis, Ichthy... ORPHA:2897
Erythrokeratodermia Variabilis Et Progressiva 1
Patchy palmoplantar hyperkeratosis, Erythroderma, Hypergranulosis, Generalized hyperkeratosis OMIM:133200
Witkop Syndrome
Abnormal sweat gland morphology, Fine hair, Ridged nail, Concave nail, Hypoplastic fifth toenail,... OMIM:189500
Subacute Cutaneous Lupus Erythematosus
Discoid lupus rash, Dermal atrophy, Psoriasiform lesion, Malar rash, Hyperkeratosis, Vasculitis i... ORPHA:163525
Ichthyosis, Hystrix-Like, With Deafness
Palmoplantar keratoderma, Cobblestone-like hyperkeratosis, Ichthyosis, Scarring alopecia of scalp... OMIM:602540
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Psoriasiform lesion, Erythematous plaque, Superficial dermal perivascular inflammatory infiltrate... ORPHA:284426
Trichodental Dysplasia
Sparse hair, Slow-growing hair, Fine hair, Brittle hair OMIM:601453
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma
Honeycomb palmoplantar hyperkeratosis, Ichthyosis, Linear arrays of macular hyperkeratoses in fle... OMIM:601952
Keratolytic Winter Erythema
Erythema, Palmoplantar hyperhidrosis OMIM:148370
Copper Deficiency, Familial Benign
Early balding, Curly hair OMIM:121270
Prolidase Deficiency
Erythema, Palmoplantar keratoderma, Skin ulcer, Dry skin, Crusting erythematous dermatitis, Aplas... ORPHA:742
Cole Disease
Hyperkeratotic papule, Orthokeratosis, Palmoplantar keratoderma, Hypergranulosis, Hypopigmented m... OMIM:615522
Carvajal Syndrome
Woolly hair ORPHA:65282
Keratosis Pilaris Atrophicans
Erythema, Papule, Comedo OMIM:604093
Hidrotic Ectodermal Dysplasia
Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Sparse ey... ORPHA:189
Orthostatic Hypotensive Disorder, Streeten Type
Facial erythema, Bruising susceptibility OMIM:143850
Psoriasis 14, Pustular
Pustule, Erythema, Psoriasiform dermatitis, Parakeratosis OMIM:614204
Bjornstad Syndrome
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Al... OMIM:262000
Epidermolysis Bullosa, Lethal Acantholytic
Acantholysis, Aplasia cutis congenita, Skin erosion, Neonatal death OMIM:609638
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development
Parakeratosis, Subcutaneous nodule, Hyperkeratosis OMIM:618339
Ectodermal Dysplasia 4, Hair/Nail Type
Abnormal sweat gland morphology, Alopecia, Sparse body hair, Congenital onychodystrophy, Nail dys... OMIM:602032
Ichthyosis Vulgaris
Palmar hyperlinearity, Dry skin, Ichthyosis, Absent keratohyalin granules OMIM:146700
Focal Palmoplantar And Gingival Keratoderma
Subungual hyperkeratosis, Palmoplantar keratoderma, Focal friction-related palmoplantar hyperkera... ORPHA:2200
Lymphatic Malformation 4
Hyperkeratosis, Prominent superficial veins OMIM:615907
Ectodermal Dysplasia 7, Hair/Nail Type
Abnormal sweat gland morphology, Alopecia, Sparse eyebrow, Dystrophic toenail, Sparse eyelashes, ... OMIM:614929
Keratolytic Winter Erythema
Pustule, Erythema ORPHA:50943
Chronic Mucocutaneous Candidiasis
Erythema, Skin ulcer, Skin rash, Pruritus, Papule, Hyperkeratosis ORPHA:1334
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Poor wound healing, Bruising susceptibility, Atrophic scars, Redundant skin, Fragile skin, Dermal... OMIM:225410
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2
Dermal translucency, Poor wound healing, Bruising susceptibility OMIM:619120
Hyperkeratotic papule, Atypical scarring of skin, Hypopigmented skin patches, Hyperparakeratosis,... ORPHA:182
Familial Cold Autoinflammatory Syndrome 3
Erythema, Dermatographic urticaria, Cold urticaria, Angioedema, Recurrent otitis media, Onychomyc... OMIM:614468
Ectodermal Dysplasia-Syndactyly Syndrome 2
Palmoplantar keratoderma, Ectodermal dysplasia, Follicular hyperkeratosis, Congenital bullous ich... OMIM:613576
Pyoderma Gangrenosum
Skin ulcer, Atrophic scars, Pustule, Skin vesicle, Papule ORPHA:48104
Keratoderma Hereditarium Mutilans
Papule, Hyperkeratosis, Ichthyosis, Honeycomb palmoplantar hyperkeratosis ORPHA:494
Ichthyosis Prematurity Syndrome
Dermatographic urticaria, Follicular hyperkeratosis, Erythroderma, Generalized ichthyosis, Pruritus OMIM:608649
Olmsted Syndrome, X-Linked
Subungual hyperkeratosis, Palmoplantar keratoderma, Parakeratosis, Palmoplantar hyperkeratosis, H... OMIM:300918
Mycosis Fungoides
Erythema, Eczematoid dermatitis, Psoriasiform dermatitis, Skin plaque, Pruritus OMIM:254400
Porokeratosis 7, Multiple Types
Parakeratosis, Porokeratosis OMIM:614714
Porokeratosis 1, Multiple Types
Parakeratosis, Porokeratosis OMIM:175800
Bullous Impetigo
Pustule, Erythema, Recurrent bacterial skin infections ORPHA:36237
Congenital Disorder Of Glycosylation, Type If
Dry skin, Hyperkeratosis, Failure to thrive, Scaling skin OMIM:609180
Aplasia Cutis Congenita
Erythema, Skin ulcer, Aplasia cutis congenita, Aplasia cutis congenita over the scalp vertex, Con... ORPHA:1114
Dowling-Degos Disease 4
Epidermal acanthosis, Hypergranulosis OMIM:615696
Amyloidosis, Primary Localized Cutaneous, 1
Dry skin, Scaling skin OMIM:105250
Lamellar Ichthyosis
Dry skin, Ichthyosis, Lack of skin elasticity, Erythroderma, Pruritus, Hyperkeratosis ORPHA:313
Basan Syndrome
Cutaneous syndactyly of toes, Palmoplantar keratoderma, Single transverse palmar crease, Ectoderm... OMIM:129200
Schopf-Schulz-Passarge Syndrome
Dry skin, Palmoplantar keratoderma, Ectodermal dysplasia, Hyperkeratosis OMIM:224750
Hennekam-Beemer Syndrome
Erythema, Thickened skin, Skin vesicle, Telangiectasia of the skin, Macule, Pruritus, Subcutaneou... ORPHA:2135
Onychotrichodysplasia And Neutropenia
Sparse pubic hair, Hypoplastic fingernail, Trichorrhexis nodosa, Curly eyelashes, Concave nail, C... OMIM:258360
Olmsted Syndrome 2
Palmoplantar keratoderma, Perioral hyperkeratosis, Parakeratosis, Palmoplantar hyperkeratosis, Pr... OMIM:619208
Immunodeficiency 58
Recurrent upper respiratory tract infections, Recurrent pneumonia, Chronic otitis media, Cold urt... OMIM:618131
Moynahan Syndrome
Hyperkeratosis ORPHA:2574
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
Palmoplantar keratoderma, Palmoplantar blistering, Hypergranulosis, Orthokeratotic hyperkeratosis... OMIM:148700
Rothmund-Thomson Syndrome, Type 1
Hyperkeratosis, Cafe-au-lait spot OMIM:618625
Epidermolysis Bullosa Simplex 2E, With Migratory Circinate Erythema
Erythema migrans OMIM:609352
Erythema Palmare Hereditarium
Erythema OMIM:133000
Hailey-Hailey Disease
Erythema OMIM:169600
Annular Erythema
Erythema OMIM:106500
Flynn-Aird Syndrome
Dermal atrophy, Hyperkeratosis OMIM:136300
Erythrokeratodermia Variabilis Et Progressiva 7
Woolly hair, Dystrophic toenail OMIM:619209
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Alopecia, Fine hair, Abnormal fingernail morphology, Abnormal hair morphology, Abnormal toenail m... ORPHA:248
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Atrophic scars, Follicular hyperkeratosis, Bruising susceptibility ORPHA:300179
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Aplasia/Hypoplasia of the skin, Skin vesicle, Dermal atrophy, Papule ORPHA:257
Neuropathy, Hereditary Sensory, Type If
Hyperkeratosis OMIM:615632
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1
Dermal translucency, Poor wound healing, Bruising susceptibility OMIM:619115
Ichthyosis, Congenital, Autosomal Recessive 9
Orthokeratosis, Hypergranulosis, Erythroderma, Hyperkeratosis, Congenital nonbullous ichthyosifor... OMIM:615023
Palmoplantar Keratoderma, Punctate Type Ia
Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis OMIM:148600
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Orthokeratosis, Palmoplantar keratoderma, Hypergranulosis, Psoriasiform dermatitis, Ichthyosis, E... OMIM:615508
Drug-Induced Localized Lipodystrophy
Erythema, Reduced subcutaneous adipose tissue ORPHA:90157
Ichthyosis, Congenital, Autosomal Recessive 12
White scaling skin OMIM:617320
Recon Progeroid Syndrome
Progeroid facial appearance, Dry skin, Long thumb, Arachnodactyly, Attached earlobe, Livedo retic... OMIM:620370
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Folliculitis, Scarring alopecia of scalp, Facial erythema, Palmoplantar keratoderma OMIM:612843
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Eczematoid dermatitis, Skin ulcer, Generalized abnormality of skin, Skin rash, Skin vesicle, Prur... ORPHA:2314
Singleton-Merten Syndrome 2
Osteolytic defects of the phalanges of the hand, Psoriasiform lesion, Hyperkeratosis OMIM:616298
Sydenham Chorea
Erythema, Recurrent streptococcus pneumoniae infections ORPHA:306731
Palmoplantar Keratoderma, Epidermolytic, 1
Plantar hyperkeratosis, Localized epidermolytic hyperkeratosis, Palmoplantar hyperkeratosis, Palm... OMIM:144200
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Woolly hair OMIM:610476
Primary Erythromelalgia
Erythema, Pruritus ORPHA:90026
Porokeratosis 3, Multiple Types
Parakeratosis, Porokeratosis OMIM:175900
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Erythema, Thickened skin, Palmoplantar keratoderma, Skin ulcer, Skin fissure ORPHA:659
Rosaï-Dorfman Disease
Erythema, Subcutaneous nodule, Papule ORPHA:158014
Seborrhea-Like Dermatitis With Psoriasiform Elements
Seborrheic dermatitis, Hyperkeratosis OMIM:610227
Bullous Pemphigoid
Erythema, Eczematoid dermatitis, Psoriasiform dermatitis, Macule, Pruritus, Urticaria ORPHA:703
Interstitial Granulomatous Dermatitis With Arthritis
Inflammatory abnormality of the skin, Erythema, Papule, Pruritus ORPHA:79099
Fixed Drug Eruption
Erythema, Skin erosion, Generalized abnormality of skin, Erythematous plaque, Crusting erythemato... ORPHA:293812
Lipoid Proteinosis
Acne, Thickened skin, Pustule, Subcutaneous nodule, Papule, Hyperkeratosis ORPHA:530
Leopard Syndrome 3
Multiple lentigines, Dry skin, Few cafe-au-lait spots, Hyperkeratosis, Numerous nevi, Epidermal h... OMIM:613707
Proteus Syndrome
Epidermal nevus, Hyperkeratosis, Nevus OMIM:176920
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive
Plantar hyperkeratosis, Pruritus OMIM:616487
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Dermal translucency ORPHA:529965
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Conjunctival telangiectasia, Dry skin, Palmoplantar keratoderma, Scaling skin OMIM:618373
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Comedonal acne, Follicular hyperkeratosis OMIM:615147
Ichthyosis, Congenital, Autosomal Recessive 7
Epidermal acanthosis, Palmoplantar keratoderma, Ichthyosis, Hypergranulosis OMIM:615022
Corneodermatoosseous Syndrome
Erythema, Thickened skin, Palmoplantar keratoderma, Hearing impairment, Abnormality of the hand, ... ORPHA:3194
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Sparse eyebrow, Fine hair, Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse hair OMIM:129490
Porphyria Variegata
Localized skin lesion, Skin erosion, Thickened skin, Milia, Skin vesicle, Cutaneous photosensitivity ORPHA:79473
Congenital Disorder Of Glycosylation, Type Iq
Eczematoid dermatitis, Dry skin, Ichthyosis, Cutis laxa, Hyperkeratosis OMIM:612379
Diffuse Cutaneous Mastocytosis
Thickened skin, Dermatographic urticaria, Generalized abnormality of skin, Scaling skin, Darier's... ORPHA:79456
Odontoonychodermal Dysplasia
Erythema, Orthokeratosis, Hypergranulosis, Dry skin, Palmoplantar erythema, Palmoplantar hyperker... OMIM:257980
Acute Radiation Syndrome
Telangiectasia, Hyperkeratosis, Skin ulcer, Scaling skin ORPHA:454831
Kid Syndrome
Sepsis, Palmoplantar keratoderma, Progeroid facial appearance, Patellar hypoplasia, Recurrent can... ORPHA:477
Hypodontia-Dysplasia Of Nails Syndrome
Ridged fingernail, Thin toenail, Fine hair, Hypoplastic fingernail, Abnormal fingernail morpholog... ORPHA:2228
Olmsted Syndrome 1
Subungual hyperkeratosis, Orthokeratosis, Palmoplantar keratoderma, Hyperparakeratosis, Periorifi... OMIM:614594
Autosomal Erythropoietic Protoporphyria
Erythema, Pruritus, Cutaneous photosensitivity, Eczematoid dermatitis ORPHA:79278
Aicardi-Goutieres Syndrome 5
Dry skin, Scaling skin OMIM:612952
Pilarowski-Bjornsson Syndrome
Dermal translucency OMIM:617682
Ichthyosis, Congenital, Autosomal Recessive 1
Congenital ichthyosiform erythroderma, Ichthyosis, Parakeratosis, Palmoplantar hyperkeratosis, Er... OMIM:242300
Granulomatous Slack Skin
Erythema, Cutis laxa, Redundant skin ORPHA:33111
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Dry skin, Follicular hyperkeratosis OMIM:617066
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Erythema, Eczematoid dermatitis, Redundant skin, Seborrheic dermatitis, Palmoplantar hyperkeratos... OMIM:259100
Choroidal Atrophy-Alopecia Syndrome
Ridged fingernail, Fine hair, Supernumerary nipple, Abnormal fingernail morphology, Bifid nail, T... ORPHA:1433
C1Q Deficiency 2
Pneumocystis carinii pneumonia, Sepsis, Recurrent otitis media, Facial erythema, Vasculitis in th... OMIM:620321
Ramon Syndrome
Telangiectasia of the skin, Hyperkeratosis ORPHA:3019
Lethal Acantholytic Erosive Disorder
Abnormal helix morphology, Camptodactyly of toe, 2-3 finger syndactyly, 4-5 finger syndactyly, Fr... ORPHA:158687
Hypotrichosis With Juvenile Macular Degeneration
Melanocytic nevus, Hyperkeratosis ORPHA:1573
Mednik Syndrome
Hyperkeratosis, Ichthyosis ORPHA:171851
Centrifugal Lipodystrophy
Erythema, Lack of facial subcutaneous fat, Reduced subcutaneous adipose tissue, Scaling skin ORPHA:90156
Hereditary Sensory And Autonomic Neuropathy Type 1
Poor wound healing, Skin ulcer, Hyperkeratosis, Penetrating foot ulcers ORPHA:36386
White Sponge Nevus 2
Hyperparakeratosis OMIM:615785
Tylosis With Esophageal Cancer
Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis OMIM:148500
Sweet Syndrome
Erythematous papule, Acne inversa, Predominantly dermal neutrophilic infiltrate, Erythematous pla... ORPHA:3243
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Palmoplantar keratoderma, Poor wound healing, Dry skin, Facial erythema, Flexion contracture of f... ORPHA:1010
Cutis Laxa, Autosomal Recessive, Type Iiib
Excessive wrinkled skin, Cutis laxa, Prominent superficial veins, Dermal translucency, Thin skin OMIM:614438
Intellectual Developmental Disorder, Autosomal Dominant 34
Synophrys, Coarse hair, Curly hair OMIM:616351
Congenital Disorder Of Glycosylation, Type Im
Inflammatory abnormality of the skin, Dry skin, Ichthyosis, Death in infancy, Hyperkeratosis OMIM:610768
Protoporphyria, Erythropoietic, 1
Erythema, Pruritus, Eczematoid dermatitis OMIM:177000
Bazex-Dupré-Christol Syndrome
Sparse eyebrow, Coarse hair, Trichorrhexis nodosa, Sparse or absent eyelashes, Pili torti, Sparse... ORPHA:113
Dyskeratosis Congenita
Palmoplantar keratoderma, Skin ulcer, Hypopigmented skin patches, Premature graying of hair, Skin... ORPHA:1775
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Multiple rows of eyelashes, Facial hirsutism, Thick eyebrow, Curly eyelashes, Low posterior hairl... ORPHA:163654
Familial Cold Urticaria
Erythema, Pruritus, Urticaria ORPHA:47045
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Subungual hyperkeratosis, Orthokeratosis, Sparse lateral eyebrow, Eczematoid dermatitis, Acne inv... OMIM:617337
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome
Hyperkeratotic papule, Palmoplantar hyperkeratosis, Palmoplantar keratoderma ORPHA:2698
Cutis Laxa, Autosomal Dominant 3
Dermal translucency, Cutis laxa, Premature skin wrinkling OMIM:616603
Clouston Syndrome
Alopecia, Sparse eyebrow, Small nail, Fine hair, Alopecia totalis, Brittle hair, Nail dystrophy, ... OMIM:129500
Amelo-Onycho-Hypohidrotic Syndrome
Dry skin, Hyperkeratosis ORPHA:1028
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Dry skin, Ichthyosis, Parakeratosis, Acanthosis nigricans, Hyperkeratosis OMIM:618527
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Fine hair, Fragile nails ORPHA:500166
Glutamine Deficiency, Congenital
Low-set ears, Erythema, Micromelia, Camptodactyly, Recurrent respiratory infections OMIM:610015
Lymphatic Malformation 12
Death in adolescence, Hyperkeratosis, Neonatal death OMIM:620014
Cardiofaciocutaneous Syndrome 4
Alopecia of scalp, Sparse eyelashes, Absent eyebrow, Curly hair, Sparse hair OMIM:615280
Noonan Syndrome 6
Low posterior hairline, Long eyebrows, Sparse hair, Curly hair OMIM:613224
Harlequin Ichthyosis
Ichthyosis, Erythroderma, Hyperkeratosis, Congenital ichthyosiform erythroderma ORPHA:457
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Sparse hair, Fine hair ORPHA:1174
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Alopecia, Sparse eyebrow, Dystrophic toenail, Fine hair, Dystrophic fingernails, Sparse scalp hair ORPHA:1882
Leopard Syndrome 2
Curly hair OMIM:611554
Ectodermal Dysplasia-Syndactyly Syndrome 1
Alopecia, Coarse hair, Small nail, Hypoplastic toenails, Sparse eyelashes, Patchy alopecia, Pili ... OMIM:613573
X-Linked Dominant Chondrodysplasia Punctata
Low-set ears, Ichthyosis, Sensorineural hearing impairment, Talipes equinovarus, Scaling skin, Ab... ORPHA:35173
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Recurrent upper respiratory tract infections, Recurrent viral infections, Failure to thrive, Recu... ORPHA:169154
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Severe varicella zoster infection, Recurrent viral infections, Failure to thrive in infancy, Recu... OMIM:606367
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Erythema, Orthokeratosis, Finger syndactyly, Hearing impairment, Congenital ichthyosiform erythro... OMIM:308050
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Telangiectasia, Telangiectasia of the skin, Hyperkeratosis ORPHA:79279
Noonan Syndrome 5
Sparse eyebrow, Small nail, Fine hair, Curly hair OMIM:611553
Noonan Syndrome 9
Sparse eyebrow, Curly hair OMIM:616559
Ectodermal Dysplasia-Skin Fragility Syndrome
Recurrent pneumonia, Sepsis, Palmoplantar keratoderma, Failure to thrive, Follicular hyperkeratos... ORPHA:158668
Pachyonychia Congenita 1
Follicular hyperkeratosis, Palmoplantar hyperkeratosis OMIM:167200
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Camptodactyly of finger, Hidrotic ectodermal dysplasia, Joint contracture of the 5th finger, Sens... ORPHA:1883
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Telangiectasia of the skin, Telangiectasia of the oral mucosa, Angiokeratoma corporis diffusum, L... ORPHA:79280
Cardiofaciocutaneous Syndrome 3
Curly hair OMIM:615279
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse
Plantar hyperkeratosis, Epidermal acanthosis, Palmoplantar keratoderma OMIM:615735
Peeling Skin Syndrome 1
Palmoplantar hyperhidrosis, Scaling skin OMIM:270300
Meige Disease
Skin erosion, Atypical scarring of skin, Skin ulcer, Cobblestone-like hyperkeratosis, Recurrent s... ORPHA:90186
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Synophrys, Sparse eyebrow, Sparse hair, Curly hair OMIM:620075
Xeroderma Pigmentosum
Erythema, Thickened skin, Hypopigmented skin patches, Dry skin, Dermal atrophy, Melanocytic nevus... ORPHA:910
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Dermal translucency, Atypical scarring of skin, Atrophic scars, Bruising susceptibility OMIM:618343
Congenital Lethal Erythroderma
Dry skin, Congenital exfoliative erythroderma, Ichthyosis, Death in infancy, Urticaria ORPHA:1954
Polyarteritis Nodosa
Erythema, Cutis marmorata, Weight loss, Skin ulcer ORPHA:767
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Dry skin, Follicular hyperkeratosis ORPHA:486815
Hereditary Acrokeratotic Poikiloderma
Erythema, Thin skin, Skin ulcer, Hypopigmented skin patches, Eczematoid dermatitis, Ichthyosis, P... ORPHA:2907
Ectodermal Dysplasia/Short Stature Syndrome
Epidermal acanthosis, Palmoplantar keratoderma, Hyperkeratosis, Sensorineural hearing impairment OMIM:616029
Neonatal Lupus Erythematosus
Malar rash, Erythematous plaque, Skin rash, Parakeratosis, Hyperkeratosis, Maculopapular exanthem... ORPHA:398124
Naxos Disease
Subungual hyperkeratosis, Palmoplantar keratoderma, Diffuse palmoplantar hyperkeratosis, Fragile ... OMIM:601214
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Dermal translucency, Cutis laxa, Atrophic scars OMIM:615349
Trichothiodystrophy 2, Photosensitive
Tiger tail banding, Coarse hair OMIM:616390
De Barsy Syndrome
Progeroid facial appearance, Prominent veins on trunk, Excessive wrinkled skin, Cutis laxa, Derma... ORPHA:2962
Erythema, Petechiae, Skin rash, Crusting erythematous dermatitis, Skin vesicle, Macule, Erythema ... ORPHA:324625
Netherton Syndrome
Eczematoid dermatitis, Angioedema, Parakeratosis, Erythroderma, Recurrent skin infections, Congen... OMIM:256500
Pili Torti-Onychodysplasia Syndrome
Alopecia universalis, Alopecia, Sparse body hair, Congenital onychodystrophy, Nail dystrophy, Abs... ORPHA:2890
Immunodeficiency 23
Erythema, Conductive hearing impairment, Chronic mucocutaneous candidiasis, Recurrent respiratory... OMIM:615816
Fountain Syndrome
Erythema, Short distal phalanx of finger, Coarse metaphyseal trabecularization, Cutis marmorata, ... ORPHA:3219
Braddock-Carey Syndrome 1
Sparse hair, Curly hair OMIM:619980
Cutaneous cyst, Cobblestone-like hyperkeratosis, Prominent superficial veins, Subcutaneous nodule... ORPHA:2583
Pachyonychia Congenita
Cutaneous cyst, Palmoplantar keratoderma, Epidermoid cyst, Linear arrays of macular hyperkeratose... ORPHA:2309
Myoectodermal Gonadal Dysgenesis Syndrome
Low-set ears, Bifid distal phalanx of toe, Dry skin, Cutaneous finger syndactyly, Limited elbow e... OMIM:618419
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive
Follicular hyperkeratosis OMIM:277350
Sparse hair, Fine hair ORPHA:2118
Xeroderma Pigmentosum, Complementation Group F
Erythema, Cutaneous photosensitivity, Hearing impairment, Decreased body weight OMIM:278760
Inflammatory Skin And Bowel Disease, Neonatal, 1
Pustule, Erythroderma, Perioral erythema, Perianal erythema OMIM:614328
Syndromic Recessive X-Linked Ichthyosis
Hyperkeratosis, Ichthyosis ORPHA:281090
Linear Verrucous Nevus Syndrome
Hyperkeratosis, Verrucous papule ORPHA:2611
Ectodermal Dysplasia 13, Hair/Tooth Type
Sparse eyelashes, Thin eyebrow, Low anterior hairline, Brittle hair OMIM:617392
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Erythema, Palmoplantar keratoderma, Generalized abnormality of skin, Atrophic scars, Milia, Fragi... ORPHA:79396
Palmoplantar Carcinoma, Multiple Self-Healing
Palmoplantar keratoderma, Parakeratosis, Ectodermal dysplasia, Follicular hyperkeratosis, Finger ... OMIM:615225
Immunodeficiency, Common Variable, 8, With Autoimmunity
Recurrent pneumonia, Sepsis, Failure to thrive, Recurrent respiratory infections, Recurrent otiti... OMIM:614700
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Dermal translucency, Premature graying of hair, Gastrointestinal telangiectasia, Retinal telangie... OMIM:612199
Complex Regional Pain Syndrome
Erythema, Dry skin, Edema of the upper limbs ORPHA:83452
Graft Versus Host Disease
Failure to thrive, Dupuytren contracture, Recurrent gastroenteritis, Limited elbow movement, Scal... ORPHA:39812
Restrictive Dermopathy
Skin erosion, Generalized hyperkeratosis, Dermal atrophy, Scaling skin, Dermal translucency, Epid... ORPHA:1662
Hidrotic Ectodermal Dysplasia, Halal Type
Multiple cafe-au-lait spots, Follicular hyperkeratosis ORPHA:1809
Noonan Syndrome 8
Low-set ears, Failure to thrive, Large for gestational age, Palmoplantar cutis laxa, Hyperkeratosis OMIM:615355
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Erythema, Angioedema ORPHA:100057
Sting-Associated Vasculopathy, Infantile-Onset
Erythema, Failure to thrive, Recurrent respiratory infections, Cutis marmorata, Telangiectasia, L... OMIM:615934
Riddle Syndrome
Erythema, Recurrent pneumonia, Recurrent viral infections, Otitis media, Recurrent sinusitis, Tel... ORPHA:420741
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Orthokeratosis, Dry skin, Ichthyosis, Parakeratosis, Jaundice, Pruritus OMIM:607626
Bacterial Toxic-Shock Syndrome
Sepsis, Severe viral infection, Recurrent urinary tract infections, Ecchymosis, Infectious enceph... ORPHA:36234
Glycosylphosphatidylinositol Biosynthesis Defect 25
Sparse hair, Coarse hair OMIM:619985
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Dermal translucency ORPHA:541423
Subcorneal Pustular Dermatosis
Pustule, Erythema, Pruritus ORPHA:48377
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Hyperkeratosis, Death in childhood OMIM:301108
Ichthyosis, Scaling skin ORPHA:79323
Donohue Syndrome
Low-set ears, Severe failure to thrive, Acanthosis nigricans, Large hands, Recurrent infections, ... OMIM:246200
Warburg-Cinotti Syndrome
Low-set ears, Erythema, Hypoplasia of the ear cartilage, Poor wound healing, Atresia of the exter... OMIM:618175
Kindler Epidermolysis Bullosa
Erythema, Atypical scarring of skin, Palmoplantar keratoderma, Milia, Aplasia/Hypoplasia of the s... ORPHA:2908
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Abnormal helix morphology, Synostosis of carpal bones, Finger syndactyly, Low-set, posteriorly ro... ORPHA:1005
Costello Syndrome
Ulnar deviation of finger, Failure to thrive in infancy, Low-set, posteriorly rotated ears, Large... ORPHA:3071
Neutrophilic Dermatosis, Acute Febrile
Pyoderma gangrenosum, Erythema, Cystic acne, Acne inversa OMIM:608068
Noonan Syndrome 7
Low posterior hairline, Curly hair OMIM:613706
Toxic Epidermal Necrolysis
Erythema, Acantholysis, Skin ulcer, Macule ORPHA:537
Herpes Simplex Virus Stromal Keratitis
Herpetiform vesicles ORPHA:137599
Amaurosis-Hypertrichosis Syndrome
Abnormal eyelash morphology, Coarse hair, Thick eyebrow, Synophrys ORPHA:1021
Snakebite Envenomation
Erythema, Localized skin lesion, Angioedema, Ecchymosis ORPHA:449285
Ectodermal Dysplasia-Blindness Syndrome
Skin ulcer, Hearing impairment, Protruding ear, Recurrent respiratory infections, Hyperkeratosis ORPHA:1806
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Low-set ears, Metaphyseal cupping of metacarpals, Rhizomelia, Abnormality of the calcaneus, Metap... ORPHA:163966
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Dermal translucency, Preauricular pit, Cafe-au-lait spot, Thin skin OMIM:617506
Smith-Kingsmore Syndrome
Curly hair OMIM:616638
Autoinflammation With Arthritis And Dyskeratosis
Failure to thrive, Dry skin, Palmoplantar hyperkeratosis, Follicular hyperkeratosis, Epidermal ac... OMIM:617388
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Dermal translucency, Atrophic scars, Bruising susceptibility, Thin skin ORPHA:536467
Giant Axonal Neuropathy 1, Autosomal Recessive
Curly hair OMIM:256850
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Perioral erythema, Failure to thrive, Recurrent candida infections, Dry skin, Perianal erythema OMIM:201100
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Recurrent pneumonia, Failure to thrive in infancy, Cutis marmorata, Hyperkeratosis, Clubbing OMIM:301220
Poikiloderma With Neutropenia
Palmoplantar keratoderma, Dermal atrophy, Skin rash, Telangiectasia, Plantar hyperkeratosis, Hype... OMIM:604173
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Erythema, Bronchiolitis, Recurrent sinopulmonary infections OMIM:614878
Immunoglobulin A Vasculitis
Erythema, Skin ulcer, Vascular skin abnormality, Angioedema, Bruising susceptibility, Skin rash, ... ORPHA:761
Trichothiodystrophy 1, Photosensitive
Dry skin, Telangiectasia, Protruding ear, Hyperkeratosis, Congenital nonbullous ichthyosiform ery... OMIM:601675
Spinocerebellar Ataxia 34
Erythroderma, Epidermal hyperkeratosis OMIM:133190
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Low posterior hairline, Highly arched eyebrow, Thick eyebrow, Curly hair OMIM:617360
Milroy Disease
Hyperkeratosis, Erysipelas ORPHA:79452
Stevens-Johnson Syndrome
Erythema, Acantholysis, Macule ORPHA:36426
Trichothiodystrophy 4, Nonphotosensitive
Small nail, Trichorrhexis nodosa, Concave nail, Nail dystrophy, Sparse eyelashes, Nail dysplasia,... OMIM:234050
Hyperimmunoglobulinemia D With Periodic Fever
Erythema, Purpura, Papule, Acrocyanosis, Urticaria ORPHA:343
Barber-Say Syndrome
Premature skin wrinkling, Dry skin, Dermal atrophy, Redundant skin, Dermal translucency OMIM:209885
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Curly hair OMIM:300986
Kanzaki Disease
Dry skin, Petechiae, Telangiectasia of the oral mucosa, Angiokeratoma corporis diffusum, Lip tela... OMIM:609242
Erythema, Shawl sign, Skin ulcer, V-sign, Heliotrope rash, Dry skin, Cutaneous photosensitivity, ... ORPHA:221
Ullrich Congenital Muscular Dystrophy 1A
Failure to thrive, Slender build, Increased laxity of fingers, Protruding ear, Talipes equinovaru... OMIM:254090
Mednik Syndrome
Erythema, Ichthyosis, Death in infancy, Death in childhood, Neonatal death OMIM:609313
Incontinentia Pigmenti
Erythema, Deviation of finger, Finger syndactyly, Skin ulcer, Camptodactyly of finger, Abnormal h... ORPHA:464
Chops Syndrome
Coarse hair, Long eyelashes, Thick eyebrow, Thick hair, Curly hair, Synophrys OMIM:616368
Ritscher-Schinzel Syndrome 4
Curly hair OMIM:619435
Congenital Disorder Of Glycosylation, Type Iil
Failure to thrive, Dry skin, Postaxial polydactyly, Recurrent infections, Hyperkeratosis OMIM:614576
Noonan Syndrome 4
Sparse eyebrow, High anterior hairline, Curly hair OMIM:610733
Trichorhinophalangeal Syndrome, Type Iii
Cone-shaped epiphyses of the middle phalanges of the hand, Short finger, Avascular necrosis of th... OMIM:190351
Incontinentia Pigmenti
Erythema, Maculopapular exanthema, Pallor, Hyperkeratosis OMIM:308300
Huriez Syndrome
Epidermal acanthosis, Congenital palmoplantar hyperkeratosis, Tapered finger OMIM:181600
Hypohidrotic Ectodermal Dysplasia
Dry skin, Hyperkeratosis, Eczematoid dermatitis, Thin skin ORPHA:238468
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Curly hair ORPHA:457485
Noonan Syndrome 14
Low posterior hairline, Sparse eyebrow, Sparse hair, Curly hair OMIM:619745
Drug Reaction With Eosinophilia And Systemic Symptoms
Erythema, Angioedema, Skin rash, Pustule, Erythroderma, Macule ORPHA:139402
Chime Syndrome
Erythema, Aplasia/Hypoplasia of the phalanges of the toes, Clubbing of toes, Skin ulcer, Hearing ... ORPHA:3474
Punctate Palmoplantar Keratoderma Type 1
Hyperkeratotic papule, Adenocarcinoma of the colon, Orthokeratosis, Palmoplantar keratoderma, Pan... ORPHA:79501
Hereditary Mucoepithelial Dysplasia
Hyperkeratosis ORPHA:1839
Rothmund-Thomson Syndrome Type 2
Erythema, Small for gestational age, Patellar hypoplasia, Porokeratosis, Metaphyseal sclerosis, A... ORPHA:221016
Neonatal Inflammatory Skin And Bowel Disease
Erythema, Generalized abnormality of skin, Recurrent gastroenteritis, Scaling skin, Recurrent bac... ORPHA:294023
Werner Syndrome
Subcutaneous calcification, Skin ulcer, Premature graying of hair, Lack of skin elasticity, Aplas... ORPHA:902
Microscopic Polyangiitis
Erythema, Skin ulcer, Subcutaneous hemorrhage, Cutis marmorata, Skin rash, Subcutaneous nodule ORPHA:727
Sialidosis Type 1
Hyperkeratosis, Vascular skin abnormality ORPHA:812
Aicardi-Goutieres Syndrome 1
Erythema, Petechiae, Chilblains, Purpura, Prolonged neonatal jaundice, Acrocyanosis OMIM:225750
Tyrosinemia Type 2
Palmoplantar keratoderma, Hyperkeratosis ORPHA:28378
Oculodentodigital Dysplasia
Fine hair, Abnormal fingernail morphology, Curly hair, Slow-growing hair, Brittle hair, Sparse ha... ORPHA:2710
Pachyonychia Congenita 3
Palmoplantar keratoderma, Chapped lip, Follicular hyperkeratosis, Palmar hyperkeratosis, Plantar ... OMIM:615726
Pituitary Adenoma 4, Acth-Secreting
Poor wound healing, Bruising susceptibility, Striae distensae, Obesity, Ecchymosis, Facial erythe... OMIM:219090
Porphyria Cutanea Tarda
Poor wound healing, Fragile skin, Scaling skin, Cutaneous photosensitivity, Recurrent bacterial s... ORPHA:101330
Acrodermatitis Enteropathica
Erythema, Skin ulcer, Failure to thrive, Generalized abnormality of skin, Dry skin, Weight loss ORPHA:37
Localized Scleroderma
Erythema, Localized skin lesion, Thickened skin, Skin erosion, Hypopigmented skin patches, Erythe... ORPHA:90289
Familial Tumoral Calcinosis
Erythema, Hypopigmented skin patches, Skin rash, Periarticular subcutaneous nodules, Subcutaneous... ORPHA:53715
Fontaine Progeroid Syndrome
Premature skin wrinkling, Redundant skin, Reduced subcutaneous adipose tissue, Death in infancy, ... OMIM:612289
Tricho-Retino-Dento-Digital Syndrome
Sparse hair, Uncombable hair ORPHA:1264
Rheumatic Fever
Erythema, Subcutaneous nodule, Pallor, Macule ORPHA:3099
Arthrogryposis And Ectodermal Dysplasia
Dry skin, Atypical scarring of skin, Ectodermal dysplasia, Hyperkeratosis OMIM:601701
Lig4 Syndrome
Erythema, Telangiectasia of the skin, Cutaneous photosensitivity, Clinodactyly of the 5th finger ORPHA:99812
Trichohepatoenteric Syndrome 1
Sparse hair, Fine hair, Trichorrhexis nodosa, Curly hair, Brittle hair, Woolly hair OMIM:222470
Trichohepatoneurodevelopmental Syndrome
Thoracic hypertrichosis, Coarse hair, Long eyelashes, Hypoplastic nipples, Curly hair, Woolly hai... OMIM:618268
Chronic Graft Versus Host Disease
Erythema, Thickened skin, Poor wound healing, Skin ulcer, Morphea, Skin vesicle, Intermittent gen... ORPHA:99921
Nodular Non-Suppurative Panniculitis
Aplasia/Hypoplasia of the skin, Erythema, Subcutaneous nodule ORPHA:33577
Trichohepatoenteric Syndrome 2
Sparse hair, Trichorrhexis nodosa, Uncombable hair, Brittle hair, Woolly hair OMIM:614602
Bazex-Dupre-Christol Syndrome
Coarse hair, Trichorrhexis nodosa, Pili torti, Sparse hair, Trichoepithelioma OMIM:301845
Gaucher Disease, Perinatal Lethal
Ichthyosis, Petechiae, Neonatal death, Hyperkeratosis, Purpura, Congenital nonbullous ichthyosifo... OMIM:608013
Epidermodysplasia Verruciformis, Susceptibility To, 4
Facial erythema OMIM:618307
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Curly hair ORPHA:85184
Cardiofaciocutaneous Syndrome 1
Absent eyelashes, Low posterior hairline, Absent eyebrow, Slow-growing hair, Curly hair, Sparse hair OMIM:115150
Fibromuscular Dysplasia, Multifocal
Dermal translucency, Atrophic scars, Striae distensae OMIM:619329
Craniofrontonasal Syndrome
Breast hypoplasia, Ridged nail, Low posterior hairline, Unilateral breast hypoplasia, Curly hair,... OMIM:304110
Inflammatory Skin And Bowel Disease, Neonatal, 2
Recurrent pneumonia, Epidermal acanthosis, Failure to thrive, Recurrent bronchiolitis OMIM:616069
Ifap Syndrome 2
Ichthyosis follicularis, Perioral erythema OMIM:619016
Xerosis And Growth Failure With Immune And Pulmonary Dysfunction Syndrome
Erythema, Congenital nonbullous ichthyosiform erythroderma, Dry skin, Microtia OMIM:620510
Loeys-Dietz Syndrome 6
Dermal translucency, Striae distensae, Bruising susceptibility OMIM:619656
Autosomal Dominant Cutis Laxa
Premature skin wrinkling, Redundant skin, Redundant neck skin, Cutis laxa, Dermal translucency, P... ORPHA:90348
Rothmund-Thomson Syndrome Type 1
Small for gestational age, Patellar hypoplasia, Porokeratosis, Metaphyseal sclerosis, Abnormality... ORPHA:221008
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Woolly hair OMIM:611528
Juvenile Dermatomyositis
Erythema, Skin ulcer, Dry skin, Skin rash, Telangiectasia of the skin, Pruritus, Cutaneous photos... ORPHA:93672
Leukocyte Adhesion Deficiency Type Ii
Skin vesicle ORPHA:99843
Bloom Syndrome
Facial telangiectasia in butterfly midface distribution, Recurrent upper respiratory tract infect... OMIM:210900
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Ichthyosis follicularis, Subungual hyperkeratosis, Recurrent upper respiratory tract infections, ... OMIM:308205
Pachyonychia Congenita 2
Subungual hyperkeratosis, Folliculitis, Palmoplantar hyperkeratosis, Epidermoid cyst OMIM:167210
Kcnq2-Related Epileptic Encephalopathy
Facial erythema, Pallor ORPHA:439218
Odontotrichoungual-Digital-Palmar Syndrome
Abnormality of hair texture, Nail dysplasia, Nail dystrophy OMIM:601957
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Pustule, Hyperkeratosis, Skin rash OMIM:612852
Cardiofaciocutaneous Syndrome
Palmoplantar keratoderma, Failure to thrive in infancy, Dry skin, Low-set, posteriorly rotated ea... ORPHA:1340
Oculocutaneous Albinism Type 1A
Thickened skin, Hyperkeratosis ORPHA:79431
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Hyperkeratosis, Nevus OMIM:620189
Cutis Laxa, Autosomal Recessive, Type Ib
Dermal translucency, Cutis laxa, Death in childhood, Neonatal death OMIM:614437
Focal Dermal Hypoplasia
Low-set ears, Erythema, Toe syndactyly, Coarse metaphyseal trabecularization, Finger syndactyly, ... ORPHA:2092
Acrocyanosis, Vascular skin abnormality, Generalized hyperkeratosis ORPHA:349
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Erythema, Failure to thrive, Ectrodactyly, Camptodactyly of finger, Oligodactyly, Recurrent respi... ORPHA:2273
Acquired Hypertrichosis Lanuginosa
Generalized hirsutism, Abnormal eyebrow morphology, Hypopigmentation of hair, Fine hair ORPHA:2221
Congenital Syphilis
Hearing impairment, Palmoplantar scaling skin, Petechiae, Tibial bowing, Prolonged neonatal jaund... ORPHA:499009
Rat-Bite Fever