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
Uncombable Hair Syndrome 3
Uncombable hair, Curly hair, Pili canaliculi OMIM:617252
Pseudopili Annulati
Abnormality of hair texture, Abnormality of the scalp hair OMIM:613241
Ringed Hair Disease
Abnormal hair pattern, Fine hair ORPHA:169
Pili Bifurcati
Abnormality of hair texture, Abnormal hair morphology ORPHA:720
Woolly Hair, Autosomal Recessive 3
Sparse scalp hair, Sparse hair, Sparse eyelashes, Trichorrhexis nodosa, Fine hair, Curly hair OMIM:616760
Porokeratosis Plantaris Palmaris Et Disseminata
Generalized abnormality of skin, Palmoplantar hyperkeratosis, Annular cutaneous lesion, Skin plaq... ORPHA:737
Pruritic Urticarial Papules And Plaques Of Pregnancy
Pruritis on hand, Eczematoid dermatitis, Pruritus on foot, Palmoplantar erythema, Palmar pruritus... 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
Porokeratosis Of Mibelli
Aplasia/Hypoplasia of the skin, Cutaneous photosensitivity, Hyperkeratosis, Porokeratosis, Pruritus ORPHA:735
Ulerythema Ophryogenesis
Miscarriage, Dry skin, Follicular hyperkeratosis, Facial erythema, Contact dermatitis, Erythemato... ORPHA:3406
Palmoplantar Keratoderma, Norrbotten Recessive Type
Palmoplantar keratoderma, Hyperkeratosis, Recurrent cutaneous fungal infections, Papule OMIM:244850
Uncombable Hair Syndrome 2
Uncombable hair, Pili canaliculi OMIM:617251
Darier Disease
Macule, Hypermelanotic macule, Acrokeratosis, Subungual hyperkeratotic fragments, Palmoplantar ke... ORPHA:218
Epidermolysis Bullosa Simplex 1C, Localized
Hyperkeratosis, Milia OMIM:131800
Hyperkeratosis-Hyperpigmentation Syndrome
Multiple cafe-au-lait spots, Cutaneous photosensitivity, Hyperkeratosis, Papule ORPHA:1336
Ichthyosis, Congenital, Autosomal Recessive 14
Erythema, Hyperkeratosis, Scaling skin, Pruritus, Orthokeratotic hyperkeratosis OMIM:617571
Erythrokeratodermia Variabilis Et Progressiva 4
Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Erythema, Palmoplantar hyperker... OMIM:617526
Erythrokeratodermia Variabilis Et Progressiva 3
Palmoplantar keratoderma, Hyperkeratosis, Erythema, Hypergranulosis OMIM:617525
Non-Epidermolytic Palmoplantar Keratoderma
Diffuse palmoplantar hyperkeratosis, Erythema, Papule, Pruritus, Skin ulcer ORPHA:2337
Progressive Symmetric Erythrokeratodermia
Palmoplantar keratoderma, Erythema, Skin plaque ORPHA:316
Hypotrichosis 4
Sparse scalp hair, Sparse eyebrow, Sparse eyelashes, Sparse body hair, Alopecia, Uncombable hair OMIM:146550
Ichthyosis, Cyclic, With Epidermolytic Hyperkeratosis
Congenital bullous ichthyosiform erythroderma, Ichthyosis, Erythema, Palmoplantar hyperkeratosis OMIM:607602
Congenital Panfollicular Nevus
Hyperkeratosis, Verrucous papule, Skin nodule ORPHA:139414
Familial Benign Chronic Pemphigus
Skin erosion, Erythema, Acantholysis, Hyperkeratosis, Skin vesicle ORPHA:2841
Atrophoderma Vermiculata
Skin pit, Erythema, Follicular hyperkeratosis, Hypoplastic pilosebaceous units, Periauricular ski... ORPHA:79100
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Pruritus, Skin vesicle, Skin fragility with non-scarring blistering, Parakeratosis, Erythema migrans ORPHA:158681
Acquired Ichthyosis
Recurrent skin infections, Erythema, Dry skin, Papule, Hyperkeratosis, Ichthyosis, Pruritus, Palm... ORPHA:454
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Skin erosion, Localized skin lesion, Fragile skin, Keloids, Milia, Atypical scarring of skin, Ery... ORPHA:79410
Ichthyosis, Lamellar, Autosomal Dominant
Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Pruritus OMIM:146750
Uncombable Hair Syndrome
Woolly hair, Patchy alopecia, Coarse hair, Trichodysplasia, Abnormal hair morphology, White hair ORPHA:1410
Krt1-Related Diffuse Nonepidermolytic Keratoderma
Onychomycosis, Diffuse palmoplantar hyperkeratosis, Decreased movement range in interphalangeal j... ORPHA:530838
Mal De Meleda
Inflammatory abnormality of the skin, Erythema, Ichthyosis, Superficial dermal perivascular infla... ORPHA:87503
Pemphigus Foliaceus
Skin erosion, Pustule, Erythema, Serpiginous cutaneous lesion, Annular cutaneous lesion, Acanthol... ORPHA:79481
Keratosis, Focal Palmoplantar And Gingival
Subungual hyperkeratosis, Circumungual hyperkeratosis, Gingival hyperkeratosis, Focal friction-re... OMIM:148730
Dowling-Degos Disease
Hypermelanotic macule, Epidermoid cyst, Generalized abnormality of skin, Palmar pits, Hypopigment... ORPHA:79145
Uncombable Hair Syndrome 1
Uncombable hair, Dry hair, Pili canaliculi OMIM:191480
Palmoplantar Keratoderma, Punctate Type Iii
Hyperkeratosis, Acrokeratosis OMIM:101850
Ichthyosis, Congenital, Autosomal Recessive 13
Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis OMIM:617574
Lichen Planus Pemphigoides
Skin vesicle, Hyperkeratosis, Pruritus ORPHA:254478
Aquagenic Palmoplantar Keratoderma
Atopic dermatitis, Palmar pruritus, White papule, Skin plaque, Palmoplantar keratoderma, Excessiv... ORPHA:498359
Witkop Syndrome
Sparse hair, Ridged nail, Fine hair, Concave nail, Nail pits, Small nail OMIM:189500
Woolly Hair, Autosomal Dominant
Woolly hair, Coarse hair, Dry hair, Slow-growing hair, Abnormal hair morphology OMIM:194300
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema ORPHA:86923
Dowling-Degos Disease 2
Hyperkeratotic papule, Hypomelanotic macule, Follicular hyperkeratosis OMIM:615327
Palmoplantar Keratoderma, Nonepidermolytic, Focal 2
Palmoplantar keratoderma, Hyperkeratosis OMIM:616400
Insulin-Resistance Syndrome Type A
Hyperkeratosis, Subcutaneous nodule ORPHA:2297
Acrokeratosis Verruciformis
Hyperkeratosis, Acrokeratosis OMIM:101900
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Hyperkeratosis, Fragile skin OMIM:615028
Erythrokeratodermia Variabilis Et Progressiva 5
Hyperkeratosis, Palmoplantar hyperkeratosis OMIM:617756
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Hypermelanotic macule, Palmar hyperkeratosis, Plantar hyperkeratosis, Papule, Hyperkeratosis, Mil... ORPHA:79399
Erythrokeratodermia Variabilis Et Progressiva 2
Palmoplantar keratoderma, Erythema OMIM:617524
Palmoplantar Keratoderma And Congenital Alopecia 2
Sclerodactyly, Dry skin, Palmoplantar hyperkeratosis, Facial erythema, Hyperkeratosis OMIM:212360
Erythrokeratoderma ''En Cocardes''
Hyperkeratosis, Papule ORPHA:315
Iga Pemphigus
Skin erosion, Pustule, Generalized abnormality of skin, Annular cutaneous lesion, Acantholysis, S... ORPHA:555905
Acrokeratoderma, Hereditary Papulotranslucent
Fine hair OMIM:101840
Sjogren-Larsson-Like Ichthyosis Without Cns Or Eye Involvement
Hyperkeratosis, Congenital ichthyosiform erythroderma OMIM:270220
Hyperkeratosis, Thickened skin ORPHA:1659
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans OMIM:144150
Cole Disease
Palmoplantar keratoderma, Hyperkeratosis, Hypergranulosis OMIM:615522
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Reticulate Acropigmentation Of Kitamura
Hyperkeratosis OMIM:615537
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Palmoplantar Keratoderma-Deafness Syndrome
Palmoplantar keratoderma, Hyperkeratosis ORPHA:2202
Elastosis Perforans Serpiginosa
Cutis laxa, Skin-colored papule, Serpiginous cutaneous lesion, Annular cutaneous lesion, Erythema... ORPHA:79148
Anonychia With Flexural Pigmentation
Macular telangiectasia, Hyperkeratosis, Hypermelanotic macule, Follicular hyperkeratosis ORPHA:69125
Classic Mycosis Fungoides
Skin rash, Eczema, Erythema, Dry skin, Hyperkeratosis, Skin plaque, Pruritus, Skin ulcer, Hypopig... ORPHA:2584
Verrucous Hemangioma
Hyperkeratotic papule, Inflammatory abnormality of the skin, Skin plaque ORPHA:464318
Ichthyosis, Congenital, Autosomal Recessive 8
Orthokeratosis, Erythema, Ichthyosis, Hyperkeratosis, Hypergranulosis OMIM:613943
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Aplasia cutis congenita on trunk or limbs, Skin erosion, Palmoplantar hyperkeratosis, Hyperkerato... ORPHA:89838
Hypotrichosis 6
Erythema, Pruritus, Follicular hyperkeratosis OMIM:607903
Palmoplantar Keratoderma, Nagashima Type
Palmoplantar hyperhidrosis, Orthokeratotic hyperkeratosis, Hypergranulosis, Epidermal acanthosis OMIM:615598
Superficial Epidermolytic Ichthyosis
Erythema, Acantholysis, Ichthyosis, Thin skin, Palmoplantar keratoderma ORPHA:455
Mal De Meleda
Perioral erythema, Ichthyosis, Congenital symmetrical palmoplantar keratosis OMIM:248300
Chand Syndrome
Nail dysplasia, Curly hair OMIM:214350
Angioma Serpiginosum, X-Linked
Fine hair, Sparse hair, Nail dystrophy OMIM:300652
Vulvovaginal Gingival Syndrome
Pruritus, Erythema, Skin erosion, Parakeratosis ORPHA:83453
Trichodysplasia-Xeroderma Syndrome
Sparse scalp hair, Pili torti, Brittle hair, Alopecia, Sparse body hair, Sparse eyebrow, Coarse h... ORPHA:3361
Marie Unna Hereditary Hypotrichosis
Sparse scalp hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Coarse hair, Sparse or absent eye... ORPHA:444
Loose Anagen Hair Syndrome
Loose anagen hair, Fair hair, Sparse hair OMIM:600628
Ichthyosis Hystrix Of Curth-Macklin
Diffuse palmoplantar hyperkeratosis, Ichthyosis, Hyperkeratosis, Recurrent skin infections ORPHA:79503
Nail dysplasia, Abnormality of hair texture, Sparse hair, Brittle hair, Alopecia, Nail dystrophy OMIM:158000
Hyperkeratosis Lenticularis Perstans
Papule, Aplasia/Hypoplasia of the skin, Pruritus, Hyperkeratosis lenticularis perstans, Skin ulcer ORPHA:409
Jessner Lymphocytic Infiltration Of The Skin
Erythema, Papule, Cutaneous photosensitivity, Skin plaque, Pruritus ORPHA:33314
Peeling Skin Syndrome 5
Hyperkeratosis OMIM:617115
Peeling Skin Syndrome 4
Epidermal acanthosis, Orthokeratosis, Ichthyosis, Hyperkeratosis, Scaling skin, Palmoplantar kera... OMIM:607936
Autosomal Dominant Epidermolytic Ichthyosis
Cutaneous photosensitivity, Hyperkeratosis, Ichthyosis, Skin ulcer, Palmoplantar keratoderma, Ery... ORPHA:312
Erythrokeratodermia Variabilis
Macule, Hypermelanotic macule, Skin rash, Erythema, Dry skin, Patchy palmoplantar hyperkeratosis,... ORPHA:317
Keratoderma Hereditarium Mutilans With Ichthyosis
Epidermal acanthosis, Congenital nonbullous ichthyosiform erythroderma, Orthokeratosis, Parakerat... ORPHA:79395
Cutaneous Mastocytoma
Telangiectasia of the skin, Flushing, Dermatographic urticaria, Hypermelanotic macule, Macule, Sk... ORPHA:79455
Ichthyosis, Congenital, Autosomal Recessive 10
Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Erythroderma, Palmoplantar kera... OMIM:615024
Chilblain Lupus
Discoid lupus rash, Pruritis on hand, Inflammatory abnormality of the skin, Skin rash, Cutis marm... ORPHA:90280
Epidermolytic Hyperkeratosis
Epidermal acanthosis, Scaling skin, Congenital bullous ichthyosiform erythroderma, Palmoplantar h... OMIM:113800
Dystrophic Epidermolysis Bullosa Pruriginosa
Subcutaneous nodule, Papule, Hyperkeratosis, Milia, Skin plaque, Pruritus, Atrophic scars, Dermal... ORPHA:89843
Familial Reactive Perforating Collagenosis
Inflammatory abnormality of the skin, Perifolliculitis, Maculopapular exanthema, Erythematous pap... ORPHA:79147
Hair Defect With Photosensitivity And Mental Retardation
Sparse hair, Sparse eyebrow, Brittle hair, Sparse eyelashes, Coarse hair OMIM:234030
Keratosis Palmoplantaris Striata Ii
Palmoplantar keratoderma, Epidermal acanthosis OMIM:612908
Epidermolysis Bullosa Dystrophica, Pretibial
Hyperkeratosis, Pruritus OMIM:131850
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Erythema, Fragile skin, Palmoplantar hyperkeratosis, Cutaneous photosensitivity, Milia, Thin skin... ORPHA:158673
Erythrokeratodermia Variabilis Et Progressiva 6
Pruritus, Erythematous plaque, Superficial dermal perivascular inflammatory infiltrate, Parakerat... OMIM:618531
Pemphigus Vulgaris
Atypical scarring of skin, Urticaria, Acantholysis, Recurrent cutaneous abscess formation ORPHA:704
Woolly Hair
Abnormality of hair texture, Woolly hair, Brittle hair, Sparse body hair, Hypopigmentation of hai... ORPHA:170
Acral Peeling Skin Syndrome
Macule, Skin erosion, Eczema, Erythema, Excessive wrinkling of palmar skin, Papule, Ichthyosis, S... ORPHA:263534
Ichthyosis, Congenital, Autosomal Recessive 6
Epidermal acanthosis, Congenital nonbullous ichthyosiform erythroderma, Orthokeratosis, Dry skin,... OMIM:612281
Hypotrichosis 12
Sparse hair, Aplasia/Hypoplasia of the eyebrow, Dry hair, Sparse or absent eyelashes, Slow-growin... OMIM:615885
Ectodermal Dysplasia 4, Hair/Nail Type
Pili torti, Absent eyebrow, Brittle hair, Alopecia, Sparse body hair, Temporal hypotrichosis, Con... OMIM:602032
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Erythema, Hyperkeratosis, Ichthyosis, Pruritus, Palmoplantar keratoderma, Parakeratosis OMIM:615821
Pili Torti
Pili torti, Abnormal eyebrow morphology, Abnormality of hair texture, Brittle hair, Alopecia, Abn... ORPHA:2889
Sabinas Brittle Hair Syndrome
Nail dysplasia, Sparse hair, Brittle hair, Dry hair, Nail dystrophy OMIM:211390
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome
Pili torti, Abnormality of hair texture, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyel... ORPHA:2891
Bathing Suit Ichthyosis
Epidermal acanthosis, Congenital nonbullous ichthyosiform erythroderma, Palmoplantar hyperkeratos... ORPHA:100976
Transgrediens Et Progrediens Palmoplantar Keratoderma
Recurrent bacterial skin infections, Palmar hyperkeratosis, Recurrent cutaneous fungal infections... ORPHA:495
Erosive Pustular Dermatosis Of The Scalp
Pustule, Scarring alopecia of scalp, Erythema, Skin erosion ORPHA:222
Erythema Elevatum Diutinum
Skin vesicle, Skin rash, Vasculitis in the skin, Skin nodule ORPHA:90000
Pili Torti, Early-Onset
Pili torti, Hair shafts flattened at irregular intervals and twisted through 180 degrees about th... OMIM:261900
Hypotrichosis And Recurrent Skin Vesicles
Skin vesicle, Follicular hyperkeratosis OMIM:613102
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development
Hyperkeratosis OMIM:618339
Sjögren-Larsson Syndrome
Urticaria, Erythema, Dry skin, Hyperkeratosis, Ichthyosis ORPHA:816
Lipoid Proteinosis Of Urbach And Wiethe
Skin erosion, Papule, Hyperkeratosis, Skin plaque, Thickened skin OMIM:247100
Ichthyosis, Congenital, Autosomal Recessive 3
Congenital nonbullous ichthyosiform erythroderma, Erythema, Hyperkeratosis, Ichthyosis, Palmoplan... OMIM:606545
Parana Hard Skin Syndrome
Hyperkeratosis, Thickened skin ORPHA:2812
Psoriasis 2
Epidermal acanthosis, Hyperkeratosis, Scaling skin, Parakeratosis OMIM:602723
Hypotrichosis 8
Sparse scalp hair, Woolly hair, Fair hair, Sparse hair, Sparse axillary hair, Sparse eyelashes, S... OMIM:278150
Darier-White Disease
Acrokeratosis, Hypermelanotic macule, Subungual hyperkeratotic fragments, Acantholysis, Pruritus,... OMIM:124200
Dermatitis Herpetiformis
Macule, Urticaria, Eczema, Erythema, Pruritus, Skin vesicle ORPHA:1656
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Epidermal acanthosis, Cutis laxa, Dry skin, Generalized hyperkeratosis, Scaling skin, Generalized... ORPHA:2269
Ichthyosis, Congenital, Autosomal Recessive 5
Palmar hyperlinearity, Epidermal acanthosis, Congenital nonbullous ichthyosiform erythroderma, Or... OMIM:604777
Hypotrichosis 14
Sparse body hair, Sparse hair OMIM:618275
Onychogryposis, Pedal, With Keratosis Plantaris And Coarse Hair
Coarse hair, Dry hair, Sparse hair, Onychogryposis of toenails OMIM:164680
Infantile Digital Fibromatosis
Hyperkeratosis, Parakeratosis, Skin nodule ORPHA:199267
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Woolly hair, Sparse hair OMIM:278200
Skin Fragility-Woolly Hair Syndrome
Failure to thrive, Palmoplantar erythema, Fragile skin, Palmoplantar hyperkeratosis, Palmoplantar... OMIM:607655
Cutaneous Collagenous Vasculopathy
Macule, Vascular skin abnormality, Petechiae, Diffuse telangiectasia, Prominent superficial blood... ORPHA:280779
Epidermolytic Palmoplantar Keratoderma
Epidermal acanthosis, Palmar hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Camptodactyly, ... ORPHA:2199
Graham Little-Piccardi-Lassueur Syndrome
Pruritus, Perifollicular hyperkeratosis ORPHA:505
Cutaneous Small Vessel Vasculitis
Urticaria, Skin rash, Recurrent skin infections, Cutis marmorata, Erythema, Papule, Purpura, Subc... ORPHA:889
Ichthyosis With Confetti
Congenital nonbullous ichthyosiform erythroderma, Decreased body weight, Palmoplantar hyperkerato... OMIM:609165
Ichthyosis, Spastic Quadriplegia, And Mental Retardation
Erythema, Dry skin, Ichthyosis, Hyperkeratosis, Scaling skin OMIM:614457
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Palmoplantar keratoderma, Hyperkeratosis, Scaling skin, Epidermal acanthosis OMIM:616295
Recessive X-Linked Ichthyosis
Ichthyosis, Hyperkeratosis, Dry skin ORPHA:461
Pemphigus Erythematosus
Skin erosion, Localized skin lesion, Acantholysis, Erythematous plaque, Focal dermal aplasia/hypo... ORPHA:79480
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism
Woolly scalp hair, Woolly hair, Alopecia OMIM:601217
Idiopathic Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Morphea, Inflammatory abnormality of the skin, Erythema, Scl... ORPHA:90158
Pemphigoid Gestationis
Skin vesicle, Pruritus ORPHA:63275
Necrobiosis Lipoidica
Telangiectasia of the skin, Inflammatory abnormality of the skin, Erythema, Fragile skin, Indurat... ORPHA:542592
Pressure-Induced Localized Lipoatrophy
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Erythema, Skin nodule ORPHA:90160
Dermatofibrosarcoma Protuberans
Skin ulcer, Thickened skin, Erythema, Subcutaneous nodule ORPHA:31112
Bazex Syndrome
Acanthosis nigricans, Hyperkeratosis, Scaling skin, Palmoplantar keratoderma, Parakeratosis ORPHA:166113
Pruritus, Cutaneous photosensitivity, Hyperkeratosis, Dermal atrophy ORPHA:79358
Dermatitis, Atopic
Recurrent skin infections, Pallor, Eczema, Atopic dermatitis, Dry skin, Facial erythema, Ichthyos... OMIM:603165
Palmoplantar Keratoderma And Congenital Alopecia 1
Epidermal hyperkeratosis, Palmoplantar erythema, Plantar hyperkeratosis, Palmoplantar keratoderma OMIM:104100
Cardiofaciocutaneous Syndrome 2
Fine hair, Sparse hair, Curly hair, Absent eyebrow OMIM:615278
Vibratory Urticaria
Facial erythema, Urticaria, Flushing OMIM:125630
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Angioma Serpiginosum
Macule, Vascular skin abnormality, Erythema ORPHA:95429
Naxos Disease
Sparse scalp hair, Abnormality of hair texture, Woolly hair, Curly hair ORPHA:34217
Panniculitis-Induced Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Vasculitis in the skin... ORPHA:90159
Hypotrichosis Simplex Of The Scalp
Epidermal acanthosis, Hyperkeratosis, Scaling skin, Parakeratosis ORPHA:90368
Ichthyosis, Congenital, Autosomal Recessive 11
Pili torti, Sparse hair, Brittle hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Curly ... OMIM:602400
Erythema Of Acral Regions
Erythema, Talipes equinovarus OMIM:227000
Alopecia Totalis
Alopecia, Alopecia of scalp ORPHA:700
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Chronic furunculosis, Perifolliculitis, Acne inversa, Follicular hyperkeratosis, Recurrent cutane... OMIM:613736
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Quinquaud Folliculitis Decalvans
Scarring alopecia of scalp, Erythema, Pustule, Recurrent skin infections ORPHA:346
Maculopapular Cutaneous Mastocytosis
Macule, Flushing, Dermatographic urticaria, Generalized abnormality of skin, Erythema, Yellow pap... ORPHA:79457
Lichen Planopilaris
Papule, Hyperkeratosis, Pruritus, Skin ulcer, Hypopigmented skin patches, Dermal atrophy ORPHA:525
Rare Cutaneous Lupus Erythematosus
Telangiectasia of the skin, Urticaria, Vascular skin abnormality, Discoid lupus rash, Maculopapul... ORPHA:535
Hypotrichosis 7
Sparse scalp hair, Woolly hair, Sparse hair, Brittle hair, Sparse axillary hair, Sparse eyelashes... OMIM:604379
Congenital Disorder Of Glycosylation, Type If
Failure to thrive, Hyperkeratosis, Scaling skin, Dry skin OMIM:609180
Cutaneous Photosensitivity And Colitis, Lethal
Early cutaneous photosensitivity, Erythema, Death in infancy OMIM:219095
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Folliculitis, Dry skin, Follicular hyperkeratosis, Facial erythema, Palmoplantar keratoderma, Sca... OMIM:308800
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Hypermelanotic macule, Palmar hyperkeratosis, Plantar hyperkeratosis, Cutaneous photosensitivity,... ORPHA:79397
Warty Dyskeratoma
Epidermal thickening, Acrokeratosis, Localized skin lesion, Acantholysis, Umbilicated nodule, Ery... ORPHA:69745
Ichthyosis, Congenital, Autosomal Recessive 2
Epidermal acanthosis, Short toe, Congenital nonbullous ichthyosiform erythroderma, Erythema, Hype... OMIM:242100
Palmoplantar Keratoderma And Woolly Hair
Sparse scalp hair, Leukonychia, Woolly hair, Sparse eyebrow, Sparse eyelashes, Sparse body hair OMIM:616099
Crandall Syndrome
Pili torti, Brittle hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Sparse body hair, Fine hair ORPHA:202
Hypotrichosis 13
Abnormal sweat gland morphology, Woolly hair, Sparse hair, Sparse eyelashes OMIM:615896
Ectodermal Dysplasia/Skin Fragility Syndrome
Fragile skin, Palmoplantar hyperkeratosis, Scaling skin, Palmoplantar blistering, Ectodermal dysp... OMIM:604536
Intellectual Developmental Disorder, Fra12A Type
Erythroderma, Hyperkeratosis OMIM:136630
Localized Epidermolysis Bullosa Simplex
Skin erosion, Palmar hyperkeratosis, Plantar hyperkeratosis, Milia, Erythematous papule, Skin pla... ORPHA:79400
Wells Syndrome
Skin vesicle, Pruritus ORPHA:901
Acrokeratoelastoidosis Of Costa
Orthokeratosis, Piezogenic pedal papules, Yellow papule, Palmoplantar hyperkeratosis, Skin plaque... ORPHA:38
Abnormal eyebrow morphology, Sparse hair, Patchy alopecia, Brittle hair, Abnormal eyelash morphol... ORPHA:573
Erythema Nodosum, Familial
Erythema, Erythema nodosum OMIM:132990
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Reduced subcutaneous adipose tissue, Facial telangiectasia in butterfly midface distribution, Epi... OMIM:137940
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hypermelanotic macule, Multiple lentigines, Hyperkeratosis, Cafe-au-lait spot, Hypopigmented skin... OMIM:145250
Acral Self-Healing Collodion Baby
Lack of skin elasticity, Erythema, Palmoplantar scaling skin, Localized epidermolytic hyperkeratosis ORPHA:281127
Björnstad Syndrome
Brittle hair, Alopecia ORPHA:123
Mastocytosis, Cutaneous
Telangiectasia macularis eruptiva perstans, Urticaria, Hypermelanotic macule, Erythema OMIM:154800
Familial Keratoacanthoma
Skin ulcer, Hyperkeratosis, Papule, Subcutaneous nodule ORPHA:493
Acrokeratosis Verruciformis Of Hopf
Hyperkeratosis, Skin plaque, Punctate palmoplantar hyperkeratosis, Skin-colored papule, Hypergran... ORPHA:79151
Peeling Skin Syndrome 2
Erythema, Scaling skin OMIM:609796
Pityriasis Rubra Pilaris
Pustule, Eczema, Subungual hyperkeratosis, Papule, Ichthyosis, Pruritus, Erythroderma, Palmoplant... ORPHA:2897
Erythrokeratodermia Variabilis Et Progressiva 1
Erythroderma, Generalized hyperkeratosis, Hypergranulosis, Patchy palmoplantar hyperkeratosis OMIM:133200
Copper Deficiency, Familial Benign
Early balding, Curly hair OMIM:121270
Ichthyosis, Hystrix-Like, With Deafness
Palmoplantar hyperkeratosis, Hyperkeratosis, Ichthyosis, Erythroderma, Palmoplantar keratoderma, ... OMIM:602540
Irida Syndrome
Pallor, Ichthyosis, Hyperkeratosis ORPHA:209981
Keratosis Pilaris Atrophicans
Comedo, Erythema, Papule OMIM:604093
Trichodental Dysplasia
Fine hair, Sparse hair, Brittle hair, Slow-growing hair OMIM:601453
Keratolytic Winter Erythema
Palmoplantar hyperhidrosis, Erythema OMIM:148370
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Pustule, Annular cutaneous lesion, Psoriasiform lesion, Erythematous plaque, Intermittent general... ORPHA:284426
Pityriasis Rubra Pilaris
Orthokeratosis, Subungual hyperkeratosis, Erythematous plaque, Palmoplantar keratoderma, Hypergra... OMIM:173200
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma
Congenital nonbullous ichthyosiform erythroderma, Linear arrays of macular hyperkeratoses in flex... OMIM:601952
Prolidase Deficiency
Erythema, Dry skin, Papule, Aplasia/Hypoplasia of the skin, Cutaneous photosensitivity, Hyperkera... ORPHA:742
Trichothiodystrophy 7, Nonphotosensitive
Congenital nonbullous ichthyosiform erythroderma, Ichthyosis, Follicular hyperkeratosis OMIM:618546
Carvajal Syndrome
Woolly hair ORPHA:65282
Psoriasis 14, Pustular
Psoriasiform dermatitis, Erythema, Pustule, Parakeratosis OMIM:614204
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Orthokeratosis, Recurrent skin infections, Acantholysis, Erythroderma, Palmoplantar keratoderma, ... OMIM:615508
Hidrotic Ectodermal Dysplasia
Sparse scalp hair, Sparse hair, Sparse eyebrow, Alopecia, Slow-growing nails, Absent eyebrow, Spa... ORPHA:189
Singleton-Merten Syndrome 2
Hyperkeratosis OMIM:616298
Orthostatic Hypotensive Disorder, Streeten Type
Facial erythema, Bruising susceptibility OMIM:143850
Ichthyosis Vulgaris
Palmar hyperlinearity, Absent keratohyalin granules, Ichthyosis, Dry skin OMIM:146700
Bjornstad Syndrome
Pili torti, Hair shafts flattened at irregular intervals and twisted through 180 degrees about th... OMIM:262000
Focal Palmoplantar And Gingival Keratoderma
Gingival hyperkeratosis, Subungual hyperkeratosis, Palmoplantar keratoderma, Circumungual hyperke... ORPHA:2200
Keratolytic Winter Erythema
Erythema, Pustule ORPHA:50943
Epidermolysis Bullosa, Lethal Acantholytic
Acantholysis, Neonatal death, Aplasia cutis congenita, Skin erosion OMIM:609638
Vohwinkel Syndrome, Variant Form
Orthokeratosis, Hyperkeratosis, Parakeratosis, Hypergranulosis OMIM:604117
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2
Dermal translucency, Poor wound healing, Bruising susceptibility OMIM:619120
Pyoderma Gangrenosum
Pustule, Papule, Atrophic scars, Skin ulcer, Skin vesicle ORPHA:48104
Vascular skin abnormality, Verrucous papule, Erythematous macule, Hyperparakeratosis, Serpiginous... ORPHA:182
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Dry skin, Follicular hyperkeratosis OMIM:617066
Ectodermal Dysplasia 7, Hair/Nail Type
Sparse scalp hair, Sparse eyebrow, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland... OMIM:614929
Dowling-Degos Disease 4
Epidermal acanthosis, Hypergranulosis OMIM:615696
Ectodermal Dysplasia-Syndactyly Syndrome 2
Ectodermal dysplasia, Syndactyly, Follicular hyperkeratosis, Macrotia, Palmoplantar keratoderma, ... OMIM:613576
Keratoderma Hereditarium Mutilans
Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Papule, Ichthyosis ORPHA:494
Mycosis Fungoides
Eczema, Erythema, Skin plaque, Pruritus, Psoriasiform dermatitis OMIM:254400
Chronic Mucocutaneous Candidiasis
Skin rash, Erythema, Papule, Hyperkeratosis, Pruritus, Skin ulcer ORPHA:1334
Basan Syndrome
Epidermal acanthosis, Cutaneous syndactyly of toes, Tapered finger, Single transverse palmar crea... OMIM:129200
Olmsted Syndrome, X-Linked
Subungual hyperkeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar keratoderma, ... OMIM:300918
Bullous Impetigo
Recurrent bacterial skin infections, Erythema, Pustule ORPHA:36237
Porokeratosis 7, Multiple Types
Porokeratosis, Parakeratosis OMIM:614714
Porokeratosis 1, Multiple Types
Porokeratosis, Parakeratosis OMIM:175800
Lamellar Ichthyosis
Lack of skin elasticity, Dry skin, Hyperkeratosis, Ichthyosis, Pruritus, Erythroderma ORPHA:313
Neuropathy, Hereditary Sensory, Type If
Hyperkeratosis OMIM:615632
Ichthyosis Prematurity Syndrome
Dermatographic urticaria, Follicular hyperkeratosis, Pruritus, Erythroderma, Generalized ichthyosis OMIM:608649
Peeling Skin Syndrome 6
Pruritus, Orthokeratosis, Parakeratosis OMIM:618084
Onychotrichodysplasia And Neutropenia
Short eyelashes, Trichorrhexis nodosa, Curly eyelashes, Sparse pubic hair, Concave nail, Curly ha... OMIM:258360
Hennekam-Beemer Syndrome
Telangiectasia of the skin, Urticaria, Macule, Erythema, Papule, Pruritus, Subcutaneous nodule, S... ORPHA:2135
Tylosis With Esophageal Cancer
Diffuse palmoplantar hyperkeratosis, Parakeratosis OMIM:148500
Choroidal Atrophy-Alopecia Syndrome
Sparse hair, Supernumerary nipple, Sparse or absent eyelashes, Abnormal fingernail morphology, Fi... ORPHA:1433
Familial Cold Autoinflammatory Syndrome 3
Onychomycosis, Dermatographic urticaria, Erythema, Angioedema, Cold urticaria, Recurrent otitis m... OMIM:614468
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
Epidermal acanthosis, Palmoplantar hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar ke... OMIM:148700
Moynahan Syndrome
Hyperkeratosis ORPHA:2574
Erythrokeratodermia Variabilis Et Progressiva 7
Woolly hair, Dystrophic toenail OMIM:619209
Epidermolysis Bullosa Simplex 2E, With Migratory Circinate Erythema
Erythema migrans OMIM:609352
Erythema Palmare Hereditarium
Erythema OMIM:133000
Benign Chronic Pemphigus
Erythema OMIM:169600
Annular Erythema
Erythema OMIM:106500
Flynn-Aird Syndrome
Hyperkeratosis, Dermal atrophy OMIM:136300
Olmsted Syndrome 2
Palmoplantar hyperkeratosis, Perioral hyperkeratosis, Hyperkeratosis, Pruritus, Palmoplantar kera... OMIM:619208
Rothmund-Thomson Syndrome, Type 1
Cafe-au-lait spot, Hyperkeratosis OMIM:618625
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Alopecia, Abnormal fingernail morphology, Fine hair, Abnormal toenail morphology, Abnormal hair m... ORPHA:248
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Aplasia/Hypoplasia of the skin, Skin vesicle, Papule, Dermal atrophy ORPHA:257
Immunodeficiency 58
Onychomycosis, Failure to thrive, Recurrent upper respiratory tract infections, Helicobacter pylo... OMIM:618131
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Atrophic scars, Bruising susceptibility, Follicular hyperkeratosis ORPHA:300179
Drug-Induced Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Erythema ORPHA:90157
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1
Dermal translucency, Poor wound healing, Bruising susceptibility OMIM:619115
Sydenham Chorea
Recurrent streptococcus pneumoniae infections, Erythema ORPHA:306731
Ichthyosis, Congenital, Autosomal Recessive 12
White scaling skin OMIM:617320
Peeling Skin Syndrome 3
White scaling skin OMIM:616265
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Erythema, Skin ulcer, Palmoplantar keratoderma, Skin fissure, Thickened skin ORPHA:659
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Facial erythema, Palmoplantar keratoderma, Scarring alopecia of scalp, Folliculitis OMIM:612843
Primary Erythromelalgia
Erythema, Pruritus ORPHA:90026
Autosomal Dominant Hyper-Ige Syndrome
Skin rash, Eczema, Generalized abnormality of skin, Papule, Pruritus, Skin ulcer, Skin vesicle ORPHA:2314
Ectodermal Dysplasia/Short Stature Syndrome
Hyperkeratosis OMIM:616029
Bullous Pemphigoid
Urticaria, Weight loss, Erythema, Recurrent infections ORPHA:703
Ichthyosis, Congenital, Autosomal Recessive 9
Congenital nonbullous ichthyosiform erythroderma, Orthokeratosis, Hyperkeratosis, Erythroderma, H... OMIM:615023
Palmoplantar Keratoderma, Epidermolytic
Plantar hyperkeratosis, Localized epidermolytic hyperkeratosis, Palmar hyperkeratosis, Palmoplant... OMIM:144200
Palmoplantar Keratoderma, Punctate Type Ia
Orthokeratosis, Hypergranulosis, Punctate palmoplantar hyperkeratosis OMIM:148600
Rosaï-Dorfman Disease
Erythema, Papule, Subcutaneous nodule ORPHA:158014
Seborrhea-Like Dermatitis With Psoriasiform Elements
Hyperkeratosis, Seborrheic dermatitis OMIM:610227
Xeroderma Pigmentosum, Autosomal Dominant, Mild
Erythema OMIM:194400
Porokeratosis 3, Multiple Types
Porokeratosis, Parakeratosis OMIM:175900
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Woolly hair OMIM:610476
Amyloidosis, Primary Localized Cutaneous, 1
Scaling skin, Dry skin, Cutis laxa OMIM:105250
Dwarfism, Familial, With Muscle Spasms
Sparse scalp hair, Fine hair, Brittle scalp hair OMIM:600771
Interstitial Granulomatous Dermatitis With Arthritis
Pruritus, Inflammatory abnormality of the skin, Erythema, Papule ORPHA:79099
Lymphatic Malformation 4
Hyperkeratosis OMIM:615907
Proteus Syndrome
Nevus, Epidermal nevus, Hyperkeratosis OMIM:176920
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Recurrent fungal infections, Erythema, Chronic mucocutaneous candidiasis, Recurrent pneumonia, Re... OMIM:147060
Olmsted Syndrome 1
Alopecia universalis, Sparse hair, Subungual hyperkeratosis, Nail dystrophy, Pruritus, Palmoplant... OMIM:614594
Ichthyosis, Congenital, Autosomal Recessive 7
Palmoplantar keratoderma, Ichthyosis, Hypergranulosis, Epidermal acanthosis OMIM:615022
Lipoid Proteinosis
Pustule, Subcutaneous nodule, Papule, Hyperkeratosis, Acne, Thickened skin ORPHA:530
Corneodermatoosseous Syndrome
Abnormality of finger, Abnormality of the hand, Erythema, Brachydactyly, Abnormal metacarpal morp... ORPHA:3194
Diffuse Cutaneous Mastocytosis
Urticaria, Dermatographic urticaria, Flushing, Generalized abnormality of skin, Darier's sign, Sc... ORPHA:79456
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive
Plantar hyperkeratosis, Pruritus OMIM:616487
Fixed Drug Eruption
Skin detachment, Skin erosion, Generalized abnormality of skin, Erythema, Erythematous plaque, Cr... ORPHA:293812
Leopard Syndrome 3
Dry skin, Multiple lentigines, Numerous nevi, Hyperkeratosis, Epidermal hyperkeratosis, Few cafe-... OMIM:613707
Aicardi-Goutieres Syndrome 5
Scaling skin, Dry skin OMIM:612952
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Orthokeratosis, Acne inversa, Hypohidrosis, Hyperkeratosis, Nail dystrophy, Hypoplastic sweat glands OMIM:617337
Odontoonychodermal Dysplasia
Orthokeratosis, Palmoplantar erythema, Plantar hyperkeratosis, Erythema, Dry skin, Follicular hyp... OMIM:257980
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Sparse hair, Sparse eyebrow, Sparse eyelashes, Ridged nail, Fine hair, Slow-growing hair OMIM:129490
Congenital Disorder Of Glycosylation, Type Iq
Cutis laxa, Eczema, Dry skin, Hyperkeratosis, Ichthyosis OMIM:612379
Autosomal Erythropoietic Protoporphyria
Eczema, Cutaneous photosensitivity, Erythema, Pruritus ORPHA:79278
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Dermal translucency ORPHA:529965
Kid Syndrome
Recurrent candida infections, Failure to thrive, Recurrent bacterial skin infections, Epidermal a... ORPHA:477
Hypodontia-Dysplasia Of Nails Syndrome
Hypoplastic toenails, Fragile nails, Ridged fingernail, Abnormal fingernail morphology, Hypoplast... ORPHA:2228
Scaling skin, Dry skin OMIM:257960
Centrifugal Lipodystrophy
Reduced subcutaneous adipose tissue, Lack of facial subcutaneous fat, Erythema, Scaling skin ORPHA:90156
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Flushing, Eczematoid dermatitis, Redundant skin, Erythema, Palmoplantar hyperkeratosis, Seborrhei... OMIM:259100
Granulomatous Slack Skin
Redundant skin, Erythema, Cutis laxa ORPHA:33111
Porphyria Variegata
Skin erosion, Localized skin lesion, Cutaneous photosensitivity, Milia, Skin vesicle, Thickened skin ORPHA:79473
Intellectual Developmental Disorder, Autosomal Dominant 34
Coarse hair, Curly hair, Synophrys OMIM:616351
Sweet Syndrome
Pustule, Acne inversa, Acne, Erythematous plaque, Erythematous papule, Skin nodule, Skin vesicle,... ORPHA:3243
Ichthyosis, Congenital, Autosomal Recessive 1
Congenital nonbullous ichthyosiform erythroderma, Palmoplantar hyperkeratosis, Ichthyosis, Erythr... OMIM:242300
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Dry skin, Follicular hyperkeratosis, Postaxial hand polydactyly, Scaling skin, Hearing impairment... OMIM:308205
Hypotrichosis With Juvenile Macular Degeneration
Melanocytic nevus, Hyperkeratosis ORPHA:1573
Ramon Syndrome
Telangiectasia of the skin, Hyperkeratosis ORPHA:3019
Cutis Laxa, Autosomal Recessive, Type Iiib
Cutis laxa, Excessive wrinkled skin, Prominent superficial veins, Thin skin, Dermal translucency OMIM:614438
White Sponge Nevus 2
Hyperparakeratosis OMIM:615785
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Fragile nails, Fine hair ORPHA:500166
Mednik Syndrome
Ichthyosis, Hyperkeratosis ORPHA:171851
Lethal Acantholytic Erosive Disorder
Abnormal pinna morphology, Clinodactyly of the 5th finger, Abnormal helix morphology, Camptodacty... ORPHA:158687
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Flexion contracture of finger, Sclerodactyly, Poor wound healing, Unilateral deafness, Dry skin, ... ORPHA:1010
Protoporphyria, Erythropoietic, 1
Eczema, Erythema, Pruritus OMIM:177000
Bazex-Dupré-Christol Syndrome
Sparse scalp hair, Pili torti, Sparse hair, Sparse eyebrow, Coarse hair, Sparse or absent eyelash... ORPHA:113
Hereditary Sensory And Autonomic Neuropathy Type 1
Skin ulcer, Poor wound healing, Hyperkeratosis, Penetrating foot ulcers ORPHA:36386
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Nail dysplasia, Thick eyebrow, Facial hirsutism, Curly eyelashes, Multiple rows of eyelashes, Cur... ORPHA:163654
Congenital Disorder Of Glycosylation, Type Im
Inflammatory abnormality of the skin, Dry skin, Ichthyosis, Hyperkeratosis, Death in infancy OMIM:610768
Familial Cold Urticaria
Urticaria, Erythema, Pruritus ORPHA:47045
Glutamine Deficiency, Congenital
Erythema, Micromelia, Camptodactyly, Low-set ears, Recurrent respiratory infections OMIM:610015
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome
Hyperkeratotic papule, Palmoplantar keratoderma, Palmoplantar hyperkeratosis ORPHA:2698
Dyskeratosis Congenita
Telangiectasia of the skin, Macule, Hypermelanotic macule, Aplasia/Hypoplasia of the skin, Palmop... ORPHA:1775
X-Linked Dominant Chondrodysplasia Punctata
Sensorineural hearing impairment, Abnormal pinna morphology, Talipes equinovarus, Ichthyosis, Sca... ORPHA:35173
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Recurrent candida infections, Failure to thrive, Recurrent upper respiratory tract infections, Re... ORPHA:169154
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Acanthosis nigricans, Dry skin, Hyperkeratosis, Ichthyosis, Parakeratosis OMIM:618527
Clouston Syndrome
Nail dysplasia, Sparse eyebrow, Alopecia, Brittle hair, Sparse eyelashes, Absent pubic hair, Alop... OMIM:129500
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Orthokeratosis, Dry skin, Ichthyosis, Jaundice, Parakeratosis OMIM:607626
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Recurrent fungal infections, Chronic oral candidiasis, Recurrent bacterial infections, Severe var... OMIM:606367
Cardiofaciocutaneous Syndrome 4
Sparse hair, Absent eyebrow, Sparse eyelashes, Curly hair, Alopecia of scalp OMIM:615280
Harlequin Ichthyosis
Erythroderma, Ichthyosis, Hyperkeratosis, Congenital ichthyosiform erythroderma ORPHA:457
Amelo-Onycho-Hypohidrotic Syndrome
Hyperkeratosis, Dry skin ORPHA:1028
Noonan Syndrome 6
Curly hair, Sparse hair, Low posterior hairline, Long eyebrows OMIM:613224
Ectodermal Dysplasia-Skin Fragility Syndrome
Failure to thrive, Sepsis, Fragile skin, Follicular hyperkeratosis, Recurrent pneumonia, Scaling ... ORPHA:158668
Ectodermal Dysplasia-Syndactyly Syndrome 1
Pili torti, Hypoplastic toenails, Sparse scalp hair, Patchy alopecia, Sparse eyelashes, Alopecia,... OMIM:613573
Leopard Syndrome 2
Curly hair OMIM:611554
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Sparse scalp hair, Sparse eyebrow, Alopecia, Dystrophic toenail, Fine hair, Dystrophic fingernails ORPHA:1882
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Fine hair, Sparse hair ORPHA:1174
Lymphatic Malformation 12
Hyperkeratosis, Death in adolescence, Neonatal death OMIM:620014
Pilodental Dysplasia With Refractive Errors
Follicular hyperkeratosis, Ectodermal dysplasia OMIM:262020
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Epidermal acanthosis, Orthokeratosis, Parakeratosis, Absent middle phalanx of 3rd finger, Absent ... OMIM:308050
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Telangiectasia of the skin, Telangiectasia, Hyperkeratosis ORPHA:79279
Noonan Syndrome 5
Curly hair, Fine hair, Sparse eyebrow, Small nail OMIM:611553
Peeling Skin Syndrome 1
Palmoplantar hyperhidrosis, Scaling skin OMIM:270300
Noonan Syndrome 9
Curly hair, Sparse eyebrow OMIM:616559
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Hidrotic ectodermal dysplasia, Sensorineural hearing impairment, Arachnodactyly, Camptodactyly of... ORPHA:1883
Polyarteritis Nodosa
Skin ulcer, Cutis marmorata, Weight loss, Erythema ORPHA:767
Palmoplantar Carcinoma, Multiple Self-Healing
Epidermal acanthosis, Finger joint hypermobility, Follicular hyperkeratosis, Palmoplantar keratod... OMIM:615225
Cardiofaciocutaneous Syndrome 3
Curly hair OMIM:615279
Meige Disease
Recurrent bacterial skin infections, Skin erosion, Recurrent skin infections, Skin dimple, Atypic... ORPHA:90186
Xeroderma Pigmentosum
Telangiectasia of the skin, Macule, Hypermelanotic macule, Erythema, Conjunctival telangiectasia,... ORPHA:910
Macule, Petechiae, Skin rash, Maculopapular exanthema, Erythema, Cutaneous photosensitivity, Crus... ORPHA:324625
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse
Palmoplantar keratoderma, Plantar hyperkeratosis, Epidermal acanthosis OMIM:615735
Pachyonychia Congenita 1
Palmoplantar hyperkeratosis, Follicular hyperkeratosis OMIM:167200
Hereditary Acrokeratotic Poikiloderma
Telangiectasia of the skin, Urticaria, Pustule, Eczema, Erythema, Papule, Palmoplantar hyperkerat... ORPHA:2907
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Telangiectasia of the skin, Papule, Telangiectasia of the oral mucosa, Lip telangiectasia, Hyperk... ORPHA:79280
Trichothiodystrophy 2, Photosensitive
Coarse hair, Tiger tail banding OMIM:616390
De Barsy Syndrome
Prominent veins on trunk, Progeroid facial appearance, Cutis laxa, Excessive wrinkled skin, Thin ... ORPHA:2962
Myoectodermal Gonadal Dysgenesis Syndrome
Sensorineural hearing impairment, Small for gestational age, Overfolded helix, Bifid distal phala... OMIM:618419
Neonatal Lupus Erythematosus
Skin rash, Maculopapular exanthema, Cutaneous photosensitivity, Hyperkeratosis, Erythematous plaq... ORPHA:398124
Fountain Syndrome
Sensorineural hearing impairment, Short distal phalanx of finger, Metaphyseal dysplasia, Cutis ma... ORPHA:3219
Pili Torti-Onychodysplasia Syndrome
Alopecia universalis, Absent eyebrow, Brittle hair, Alopecia, Sparse body hair, Congenital onycho... ORPHA:2890
Netherton Syndrome
Urticaria, Congenital nonbullous ichthyosiform erythroderma, Angioedema, Erythroderma, Parakeratosis OMIM:256500
Xeroderma Pigmentosum, Complementation Group F
Decreased body weight, Hearing impairment, Cutaneous photosensitivity, Erythema OMIM:278760
Braddock-Carey Syndrome 1
Curly hair, Sparse hair OMIM:619980
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Dry skin, Follicular hyperkeratosis ORPHA:486815
Naxos Disease
Diffuse palmoplantar hyperkeratosis, Subungual hyperkeratosis, Fragile skin, Acantholysis, Hyperk... OMIM:601214
Congenital Lethal Erythroderma
Urticaria, Congenital exfoliative erythroderma, Dry skin, Ichthyosis, Death in infancy ORPHA:1954
Inflammatory Skin And Bowel Disease, Neonatal, 1
Pustule, Perioral erythema, Erythroderma, Perianal erythema OMIM:614328
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive
Follicular hyperkeratosis OMIM:277350
Linear Verrucous Nevus Syndrome
Hyperkeratosis, Verrucous papule ORPHA:2611
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Aplasia cutis congenita on trunk or limbs, Recurrent skin infections, Generalized abnormality of ... ORPHA:79396
Fine hair, Sparse hair ORPHA:2118
Immunodeficiency 23
Sensorineural hearing impairment, Conductive hearing impairment, Failure to thrive, Vasculitis in... OMIM:615816
Recurrent bacterial skin infections, Cutaneous cyst, Prominent superficial veins, Subcutaneous no... ORPHA:2583
Restrictive Dermopathy
Skin erosion, Epidermal hyperkeratosis, Generalized hyperkeratosis, Scaling skin, Dermal transluc... ORPHA:1662
Pachyonychia Congenita
Cutaneous cyst, Palmar hyperkeratosis, Linear arrays of macular hyperkeratoses in flexural areas,... ORPHA:2309
Popov-Chang syndrome
Failure to thrive, Clinodactyly of the 5th finger, Small hand, Dry skin, Hyperkeratosis, Short fo... OMIM:618428
Syndromic Recessive X-Linked Ichthyosis
Ichthyosis, Hyperkeratosis ORPHA:281090
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Nail dysplasia, Progressive hypotrichosis, Abnormality of hair texture, Sparse eyebrow, Sparse ey... OMIM:225060
Bacterial Toxic-Shock Syndrome
Severe infection, Sepsis, Recurrent urinary tract infections, Severe varicella zoster infection, ... ORPHA:36234
Ichthyosis, Scaling skin ORPHA:79323
Graft Versus Host Disease
Recurrent gastroenteritis, Failure to thrive, Dupuytren contracture, Limited elbow movement, Recu... ORPHA:39812
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Dermal translucency ORPHA:541423
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Angioedema, Erythema ORPHA:100057
Sting-Associated Vasculopathy, Infantile-Onset
Failure to thrive, Cutis marmorata, Erythema, Recurrent infections, Livedo reticularis, Telangiec... OMIM:615934
Hidrotic Ectodermal Dysplasia, Halal Type
Multiple cafe-au-lait spots, Follicular hyperkeratosis ORPHA:1809
Immunodeficiency, Common Variable, 8, With Autoimmunity
Failure to thrive, Sepsis, Recurrent sinusitis, Psoriasiform lesion, Recurrent infections, Recurr... OMIM:614700
Noonan Syndrome 8
Failure to thrive, Palmoplantar cutis laxa, Large for gestational age, Hyperkeratosis, Low-set ears OMIM:615355
Subcorneal Pustular Dermatosis
Erythema, Pustule, Pruritus ORPHA:48377
Glycosylphosphatidylinositol Biosynthesis Defect 25
Coarse hair, Sparse hair OMIM:619985
Neutrophilic Dermatosis, Acute Febrile
Cystic acne, Acne inversa, Erythema, Pyoderma gangrenosum OMIM:608068
Complex Regional Pain Syndrome
Edema of the upper limbs, Erythema, Dry skin ORPHA:83452
Donohue Syndrome
Severe failure to thrive, Acanthosis nigricans, Large hands, Hyperkeratosis, Recurrent infections... OMIM:246200
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Abnormal antihelix morphology, Clinodactyly of the 5th finger, Abnormal helix morphology, Synosto... ORPHA:1005
Giant Axonal Neuropathy 1, Autosomal Recessive
Curly hair OMIM:256850
Kindler Epidermolysis Bullosa
Recurrent skin infections, Erythema, Aplasia/Hypoplasia of the skin, Cutaneous photosensitivity, ... ORPHA:2908
Riddle Syndrome
Erythema, Conjunctival telangiectasia, Recurrent sinusitis, Weight loss, Scaling skin, Recurrent ... ORPHA:420741
Warburg-Cinotti Syndrome
Conductive hearing impairment, Flexion contracture of finger, Hypoplasia of the ear cartilage, Po... OMIM:618175
Smith-Kingsmore Syndrome
Curly hair OMIM:616638
Noonan Syndrome 7
Curly hair, Low posterior hairline OMIM:613706
Inflammatory Skin And Bowel Disease, Neonatal, 2
Recurrent bronchiolitis, Failure to thrive, Recurrent pneumonia, Epidermal acanthosis OMIM:616069
Ectodermal Dysplasia-Blindness Syndrome
Protruding ear, Hyperkeratosis, Skin ulcer, Hearing impairment, Recurrent respiratory infections ORPHA:1806
Autoinflammation With Arthritis And Dyskeratosis
Failure to thrive, Epidermal acanthosis, Dry skin, Follicular hyperkeratosis, Palmoplantar hyperk... OMIM:617388
Amaurosis-Hypertrichosis Syndrome
Coarse hair, Abnormal eyelash morphology, Thick eyebrow, Synophrys ORPHA:1021
Costello Syndrome
Large earlobe, Lack of skin elasticity, Redundant skin, Acanthosis nigricans, Low-set, posteriorl... ORPHA:3071
Oral Erosive Lichen
Erythema, Dry skin ORPHA:31142
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Metaphyseal cupping of metacarpals, Abnormality of the calcaneus, Rhizomelia, Hyperkeratosis, Sho... ORPHA:163966
Barber-Say Syndrome
Redundant skin, Dry skin, Premature skin wrinkling, Dermal translucency, Dermal atrophy OMIM:209885
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Dermal translucency, Cafe-au-lait spot, Preauricular pit, Thin skin OMIM:617506
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Dermal translucency, Thin skin, Bruising susceptibility, Atrophic scars ORPHA:536467
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Thick eyebrow, Highly arched eyebrow, Curly hair, Low posterior hairline OMIM:617360
Snakebite Envenomation
Angioedema, Erythema, Ecchymosis, Localized skin lesion ORPHA:449285
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Bronchiolitis, Recurrent sinopulmonary infections, Erythema OMIM:614878
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Recurrent candida infections, Perioral erythema, Failure to thrive, Dry skin, Perianal erythema OMIM:201100
Spinocerebellar Ataxia 34
Epidermal hyperkeratosis, Erythroderma OMIM:133190
Kanzaki Disease
Dry skin, Telangiectasia of the oral mucosa, Lip telangiectasia, Hyperkeratosis, Angiokeratoma co... OMIM:609242
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Cutis marmorata, Hyperkeratosis, Recurrent pneumonia, Failure to thrive in infancy, Clubbing OMIM:301220
Hyperimmunoglobulinemia D With Periodic Fever
Urticaria, Erythema, Papule, Purpura, Acrocyanosis ORPHA:343
Milroy Disease
Hyperkeratosis, Erysipelas ORPHA:79452
Immunoglobulin A Vasculitis
Macule, Urticaria, Vascular skin abnormality, Pustule, Bruising susceptibility, Skin rash, Erythe... ORPHA:761
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma
Death in childhood, Erythema, Neonatal death, Ichthyosis, Death in infancy OMIM:609313
Toxic Epidermal Necrolysis
Skin ulcer, Macule, Acantholysis, Erythema ORPHA:537
Trichohepatoneurodevelopmental Syndrome
Hypertrichosis, Woolly hair, Coarse hair, Hypoplastic nipples, Synophrys, Curly hair OMIM:618268
Poikiloderma With Neutropenia
Skin rash, Plantar hyperkeratosis, Hyperkeratosis, Palmoplantar keratoderma, Telangiectasia, Derm... OMIM:604173
Trichothiodystrophy 1, Photosensitive
Protruding ear, Congenital nonbullous ichthyosiform erythroderma, Small for gestational age, Dry ... OMIM:601675
Ullrich Congenital Muscular Dystrophy 1
Slender build, Failure to thrive, Protruding ear, Talipes equinovarus, Increased laxity of finger... OMIM:254090
Huriez Syndrome
Epidermal acanthosis, Tapered finger, Congenital palmoplantar hyperkeratosis OMIM:181600
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Curly hair OMIM:300986
Chops Syndrome
Thick eyebrow, Coarse hair, Long eyelashes, Synophrys, Thick hair, Curly hair OMIM:616368
Noonan Syndrome 4
High anterior hairline, Curly hair, Sparse eyebrow OMIM:610733
Noonan Syndrome 14
Curly hair, Sparse hair, Sparse eyebrow, Low posterior hairline OMIM:619745
Incontinentia Pigmenti
Telangiectasia of the skin, Absent hand, Camptodactyly of finger, Erythema, Deviation of finger, ... ORPHA:464
Congenital Disorder Of Glycosylation, Type Iil
Failure to thrive, Postaxial polydactyly, Dry skin, Hyperkeratosis, Recurrent infections OMIM:614576
Neonatal Inflammatory Skin And Bowel Disease
Recurrent gastroenteritis, Recurrent bacterial skin infections, Generalized abnormality of skin, ... ORPHA:294023
Rothmund-Thomson Syndrome Type 2
Metaphyseal sclerosis, Small for gestational age, Plantar hyperkeratosis, Synostosis involving bo... ORPHA:221016
Ritscher-Schinzel Syndrome 4
Curly hair OMIM:619435
Trichothiodystrophy 4, Nonphotosensitive
Nail dysplasia, Abnormality of hair texture, Woolly hair, Sparse hair, Brittle hair, Sparse eyela... OMIM:234050
Chime Syndrome
Aplasia/Hypoplasia of the phalanges of the toes, Erythema, Hyperkeratosis, Ichthyosis, Short foot... ORPHA:3474
Incontinentia Pigmenti
Pallor, Maculopapular exanthema, Hyperkeratosis, Erythema OMIM:308300
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Curly hair ORPHA:457485
Stevens-Johnson Syndrome
Sepsis, Erythema, Acantholysis, Weight loss, Recurrent respiratory infections ORPHA:36426
Hereditary Mucoepithelial Dysplasia
Hyperkeratosis ORPHA:1839
Punctate Palmoplantar Keratoderma Type 1
Esophageal neoplasm, Hodgkin lymphoma, Orthokeratosis, Breast carcinoma, Stomach cancer, Prostate... ORPHA:79501
Fontaine Progeroid Syndrome
Reduced subcutaneous adipose tissue, Prematurely aged appearance, Redundant skin, Neonatal death,... OMIM:612289
Autosomal Dominant Cerebellar Ataxia
Hyperkeratosis, Erythema ORPHA:99
Hypohidrotic Ectodermal Dysplasia
Thin skin, Eczema, Hyperkeratosis, Dry skin ORPHA:238468
Microscopic Polyangiitis
Subcutaneous hemorrhage, Skin rash, Cutis marmorata, Erythema, Subcutaneous nodule, Skin ulcer ORPHA:727
Drug Reaction With Eosinophilia And Systemic Symptoms
Macule, Pustule, Skin rash, Erythema, Angioedema, Erythroderma ORPHA:139402
Sialidosis Type 1
Vascular skin abnormality, Hyperkeratosis ORPHA:812
Autosomal Dominant Cutis Laxa
Prematurely aged appearance, Cutis laxa, Redundant skin, Premature skin wrinkling, Dermal translu... ORPHA:90348
Tricho-Retino-Dento-Digital Syndrome
Uncombable hair, Sparse hair ORPHA:1264
Pachyonychia Congenita 3
Palmar hyperkeratosis, Plantar hyperkeratosis, Follicular hyperkeratosis, Palmoplantar keratoderm... OMIM:615726
Familial Tumoral Calcinosis
Skin rash, Erythema, Periarticular subcutaneous nodules, Subcutaneous nodule, Hypopigmented skin ... ORPHA:53715
Werner Syndrome
Telangiectasia of the skin, Subcutaneous calcification, Miscarriage, Prematurely aged appearance,... ORPHA:902
Rheumatic Fever
Pallor, Macule, Erythema, Subcutaneous nodule ORPHA:3099
Porphyria Cutanea Tarda
Recurrent bacterial skin infections, Poor wound healing, Fragile skin, Cutaneous photosensitivity... ORPHA:101330
Tyrosinemia Type 2
Palmoplantar keratoderma, Hyperkeratosis ORPHA:28378
Aicardi-Goutieres Syndrome 1
Petechiae, Erythema, Chilblains, Purpura, Prolonged neonatal jaundice, Acrocyanosis OMIM:225750
Adult-Onset Still Disease
Skin rash, Erythema, Pruritus ORPHA:829
Pituitary Adenoma 4, Acth-Secreting
Abdominal obesity, Bruising susceptibility, Poor wound healing, Facial erythema, Purpura, Striae ... OMIM:219090
Lig4 Syndrome
Telangiectasia of the skin, Cutaneous photosensitivity, Erythema, Clinodactyly of the 5th finger ORPHA:99812
Oculodentodigital Dysplasia
Sparse hair, Brittle hair, Abnormal fingernail morphology, Fine hair, Slow-growing hair, Abnormal... ORPHA:2710
Bazex Syndrome
Pili torti, Sparse hair, Coarse hair, Trichorrhexis nodosa, Trichoepithelioma OMIM:301845
Localized Scleroderma
Skin erosion, Erythema, Localized skin lesion, Erythematous plaque, Cutaneous sclerotic plaque, H... ORPHA:90289
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Curly hair ORPHA:85184
Arthrogryposis And Ectodermal Dysplasia
Atypical scarring of skin, Hyperkeratosis, Dry skin, Ectodermal dysplasia OMIM:601701
Fibromuscular Dysplasia, Multifocal
Dermal translucency, Striae distensae, Atrophic scars OMIM:619329
Nodular Non-Suppurative Panniculitis
Aplasia/Hypoplasia of the skin, Erythema, Subcutaneous nodule ORPHA:33577
Cardiofaciocutaneous Syndrome 1
Sparse hair, Absent eyebrow, Absent eyelashes, Slow-growing hair, Curly hair, Low posterior hairline OMIM:115150
Trichohepatoenteric Syndrome 1
Woolly hair, Sparse hair, Brittle hair, Trichorrhexis nodosa, Fine hair, Curly hair OMIM:222470
Acrodermatitis Enteropathica
Failure to thrive, Generalized abnormality of skin, Erythema, Dry skin, Skin ulcer, Weight loss ORPHA:37
Gaucher Disease, Perinatal Lethal
Congenital nonbullous ichthyosiform erythroderma, Petechiae, Neonatal death, Hyperkeratosis, Purp... OMIM:608013
Trichohepatoenteric Syndrome 2
Woolly hair, Sparse hair, Brittle hair, Trichorrhexis nodosa, Uncombable hair OMIM:614602
Rothmund-Thomson Syndrome Type 1
Short metacarpal, Metaphyseal sclerosis, Small for gestational age, Plantar hyperkeratosis, Metap... ORPHA:221008
Cataract, Aberrant Oral Frenula, And Growth Retardation
Curly hair OMIM:115645
Juvenile Idiopathic Arthritis
Skin rash, Generalized hyperkeratosis, Psoriasiform dermatitis, Thickened skin ORPHA:92
Epidermodysplasia Verruciformis, Susceptibility To, 4
Facial erythema OMIM:618307
Premature Aging Syndrome, Penttinen Type
Hyperkeratosis OMIM:601812
Leukocyte Adhesion Deficiency Type Ii
Skin vesicle ORPHA:99843
Chronic Graft Versus Host Disease
Morphea, Poor wound healing, Erythema, Intermittent generalized erythematous papular rash, Skin u... ORPHA:99921
Juvenile Dermatomyositis
Telangiectasia of the skin, Mucosal telangiectasiae, Skin rash, Erythema, Dry skin, Cutaneous pho... ORPHA:93672
Ifap Syndrome 2
Ichthyosis follicularis, Perioral erythema OMIM:619016
Rat-Bite Fever
Meningitis, Sepsis, Weight loss, Scaling skin ORPHA:31205
Pachyonychia Congenita 2
Epidermoid cyst, Subungual hyperkeratosis, Folliculitis, Palmoplantar hyperkeratosis OMIM:167210
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Woolly hair OMIM:611528
Kcnq2-Related Epileptic Encephalopathy
Facial erythema, Pallor ORPHA:439218
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Hyperkeratosis, Pustule, Skin rash OMIM:612852
Odontotrichoungual-Digital-Palmar Syndrome
Nail dysplasia, Abnormality of hair texture, Nail dystrophy OMIM:601957
Oculocutaneous Albinism Type 1A
Hyperkeratosis, Thickened skin ORPHA:79431
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Failure to thrive, Urticaria, Ectrodactyly, Abnormality of the hand, Recurrent bacterial infectio... ORPHA:2273
Parkes Weber Syndrome
Abnormal femoral metaphysis morphology, Prominent superficial blood vessels, Abnormality of the u... ORPHA:90307
Focal Dermal Hypoplasia
Telangiectasia of the skin, Coarse metaphyseal trabecularization, Abnormal palmar dermatoglyphics... ORPHA:2092
Wiedemann-Rautenstrauch Syndrome
Reduced subcutaneous adipose tissue, Progeroid facial appearance, Prominent scalp veins, Recurren... ORPHA:3455
Epidermodysplasia Verruciformis, Susceptibility To, 3
Palmar pits, Epidermal acanthosis OMIM:618267
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Generalized hirsutism, Hypopigmentation of hair, Fine hair ORPHA:2221
Bloom Syndrome
Protruding ear, Clinodactyly of the 5th finger, Facial telangiectasia in butterfly midface distri... OMIM:210900
Cardiofaciocutaneous Syndrome
Abnormal morphology of ulna, Excessive wrinkled skin, Redundant skin, Deep palmar crease, Low-set... ORPHA:1340
Kikuchi-Fujimoto Disease
Macule, Skin erosion, Vasculitis in the skin, Pustule, Skin rash, Erythematous macule, Erythema, ... ORPHA:50918
Generalized hyperkeratosis, Vascular skin abnormality, Acrocyanosis ORPHA:349
Sunct Syndrome
Facial erythema, Flushing ORPHA:57145
Restrictive Dermopathy 1
Prominent superficial blood vessels, Epidermal hyperkeratosis, Scaling skin, Rocker bottom foot, ... OMIM:275210
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Recurrent bacterial skin infections, Sparse eyebrow, Sparse eyelashes, Trichiasis, Absent pubic h... OMIM:148210
Proteasome-Associated Autoinflammatory Syndrome 1
Failure to thrive, Flexion contracture of finger, Progeroid facial appearance, Recurrent upper re... OMIM:256040
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Failure to thrive, Abnormal pinna morphology, Microtia, Short femur, Femoral bowing, Short humeru... OMIM:210710
Bone Marrow Failure Syndrome 3
Failure to thrive, Metaphyseal dysplasia, Cupped ear, Hyperkeratosis, Recurrent infections, Heari... OMIM:617052
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Sparse scalp hair, Sparse hair, Loose anagen hair, Long eyelashes, Curly hair OMIM:607721
Growth Hormone Insensitivity Syndrome
Abnormality of the nail, Fine hair ORPHA:181393
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Death in childhood, Erythema, Skin rash OMIM:618321
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Low-set ears, Erythema, Hand clenching, Talipes equinovarus OMIM:614653
Tempi Syndrome
Facial erythema, Telangiectasia ORPHA:284227
Craniofrontonasal Dysplasia
Abnormality of hair texture, Woolly hair, Ridged fingernail, Widow's peak, Low posterior hairline ORPHA:1520
Trichothiodystrophy 8, Nonphotosensitive
Woolly hair, Sparse hair, Sparse eyebrow, Trichorrhexis nodosa