Gene Summary

serine peptidase inhibitor, Kazal type 5
2310065D10Rik,  LEKT1

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Spink5em1(IMPC)J HOM   Early adult 0.00

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Viewing: all phenotypes

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.

Electrocardiogram (ECG)

Waveform Image

15 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

7 Images

Human diseases caused by Spink5 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 Spink5 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Spink5 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Ichthyosis, Lamellar, Autosomal Dominant
Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Pruritus OMIM:146750
Hypotrichosis Simplex Of The Scalp
Epidermal acanthosis, Pruritus, Parakeratosis, Fine hair, Hyperkeratosis, Atopic dermatitis, Scal... ORPHA:90368
Keratosis, Focal Palmoplantar And Gingival
Circumungual hyperkeratosis, Focal friction-related palmoplantar hyperkeratosis, Subungual hyperk... OMIM:148730
Pruritic Urticarial Papules And Plaques Of Pregnancy
Pruritis on abdomen, Pruritus, Striae distensae, Parakeratosis, Pruritus on foot, Facial erythema... ORPHA:64745
Keratoderma Hereditarium Mutilans With Ichthyosis
Epidermal acanthosis, Palmoplantar keratoderma, Orthokeratosis, Parakeratosis, Palmoplantar hyper... ORPHA:79395
Ichthyosis, Congenital, Autosomal Recessive 12
White scaling skin OMIM:617320
Peeling Skin Syndrome 3
White scaling skin OMIM:616265
Peeling Skin Syndrome 2
Erythema, Scaling skin OMIM:609796
Palmoplantar Keratoderma, Norrbotten Recessive Type
Hyperkeratosis, Palmoplantar keratoderma, Recurrent cutaneous fungal infections OMIM:244850
Ichthyosis, Congenital, Autosomal Recessive 14
Pruritus, Orthokeratotic hyperkeratosis, Erythema, Hyperkeratosis, Scaling skin OMIM:617571
Bazex Syndrome
Palmoplantar keratoderma, Pruritus, Parakeratosis, Nail dystrophy, Hyperkeratosis, Scaling skin, ... ORPHA:166113
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Palmoplantar keratoderma, Pruritus, Woolly hair, Ichthyosis, Parakeratosis, Erythema, Nail dystro... OMIM:615821
Hypotrichosis 6
Brittle hair, Pruritus, Pili torti, Erythema, Sparse eyebrow, Sparse eyelashes, Follicular hyperk... OMIM:607903
Ichthyosis, Congenital, Autosomal Recessive 13
Hyperkeratosis, Palmoplantar hyperkeratosis, Hypergranulosis OMIM:617574
Porokeratosis Of Mibelli
Hyperkeratosis, Pruritus, Porokeratosis ORPHA:735
Porokeratosis Plantaris Palmaris Et Disseminata
Pruritus, Palmoplantar hyperkeratosis, Generalized abnormality of skin, Porokeratosis, Hyperkerat... ORPHA:737
Erythrokeratodermia Variabilis Et Progressiva 4
Epidermal acanthosis, Palmoplantar hyperkeratosis, Erythema, Hyperkeratosis, Congenital nonbullou... OMIM:617526
Erythrokeratodermia Variabilis Et Progressiva 3
Epidermal acanthosis, Palmoplantar keratoderma, Erythema, Hyperkeratosis, Hypergranulosis OMIM:617525
Palmoplantar Keratoderma, Nonepidermolytic, Focal 2
Hyperkeratosis, Palmoplantar keratoderma OMIM:616400
Bathing Suit Ichthyosis
Epidermal acanthosis, Ichthyosis, Parakeratosis, Palmoplantar hyperkeratosis, Nail dystrophy, Ery... ORPHA:100976
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema ORPHA:86923
Palmoplantar Keratoderma, Punctate Type Iii
Hyperkeratosis, Acrokeratosis OMIM:101850
Palmoplantar Keratoderma And Congenital Alopecia 2
Palmoplantar hyperkeratosis, Nail dysplasia, Sclerodactyly, Facial erythema, Nail dystrophy, Hype... OMIM:212360
Sjogren-Larsson-Like Ichthyosis Without Cns Or Eye Involvement
Hyperkeratosis, Congenital ichthyosiform erythroderma OMIM:270220
Hyperkeratosis, Thickened skin ORPHA:1659
Krt1-Related Diffuse Nonepidermolytic Keratoderma
Diffuse palmoplantar hyperkeratosis, Erythema, Palmoplantar scaling skin, Concave nail, Nonepider... ORPHA:530838
Vulvovaginal Gingival Syndrome
Epidermal acanthosis, Pruritus, Parakeratosis, Erythema, Ridged nail ORPHA:83453
Olmsted Syndrome 2
Epidermal acanthosis, Palmoplantar keratoderma, Pruritus, Woolly hair, Parakeratosis, Palmoplanta... OMIM:619208
Erythrokeratodermia Variabilis Et Progressiva 5
Hyperkeratosis, Palmoplantar hyperkeratosis OMIM:617756
Darier Disease
Palmoplantar keratoderma, Pruritus, Acrokeratosis, Plantar pits, Macule, Hypermelanotic macule, S... ORPHA:218
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma
Ichthyosis, Parakeratosis, Honeycomb palmoplantar hyperkeratosis, Nail dystrophy, Congenital nonb... OMIM:601952
Ichthyosis, Congenital, Autosomal Recessive 1
Epidermal acanthosis, Ichthyosis, Parakeratosis, Congenital ichthyosiform erythroderma, Palmoplan... OMIM:242300
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Epidermal acanthosis, Generalized hyperkeratosis, Absent pubic hair, Sparse eyebrow, Cutis laxa, ... ORPHA:2269
Cole Disease
Hyperkeratosis, Palmoplantar keratoderma, Hypergranulosis OMIM:615522
Anonychia With Flexural Pigmentation
Abnormal hair morphology, Anonychia, Hyperkeratosis, Follicular hyperkeratosis, Alopecia of scalp... ORPHA:69125
Erythrokeratodermia Variabilis Et Progressiva 2
Palmoplantar keratoderma, Erythema, Hypertrichosis OMIM:617524
Acrokeratosis Verruciformis
Hyperkeratosis, Epidermal acanthosis, Acrokeratosis, Ridged nail OMIM:101900
Non-Epidermolytic Palmoplantar Keratoderma
Diffuse palmoplantar hyperkeratosis, Skin ulcer, Erythema, Pruritus ORPHA:2337
Epidermolysis Bullosa Simplex 1C, Localized
Hyperkeratosis OMIM:131800
Mal De Meleda
Epidermal acanthosis, Palmoplantar keratoderma, Superficial dermal perivascular inflammatory infi... ORPHA:87503
Olmsted Syndrome, X-Linked
Epidermal acanthosis, Palmoplantar keratoderma, Parakeratosis, Palmoplantar hyperkeratosis, Hyper... OMIM:300918
Classic Mycosis Fungoides
Abnormality of the nail, Pruritus, Erythema, Hyperkeratosis, Eczema, Alopecia, Skin ulcer, Edema,... ORPHA:2584
Acquired Ichthyosis
Palmoplantar keratoderma, Pruritus, Recurrent skin infections, Ichthyosis, Erythema, Hyperkeratos... ORPHA:454
Insulin-Resistance Syndrome Type A
Hyperkeratosis, Generalized hirsutism ORPHA:2297
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Hyperkeratosis, Epidermal acanthosis, Fragile skin OMIM:615028
Psoriasis 2
Epidermal acanthosis, Parakeratosis, Hyperkeratosis, Scaling skin, Psoriasiform dermatitis OMIM:602723
Peeling Skin Syndrome 4
Epidermal acanthosis, Palmoplantar keratoderma, Ichthyosis, Orthokeratosis, Nail dystrophy, Hyper... OMIM:607936
Olmsted Syndrome 1
Palmoplantar keratoderma, Pruritus, Parakeratosis, Nail dysplasia, Nail dystrophy, Alopecia unive... OMIM:614594
Atrophoderma Vermiculata
Pruritus, Abnormal epidermal morphology, Erythema, Follicular hyperkeratosis, Hyperkeratotic papule ORPHA:79100
Palmoplantar Keratoderma-Deafness Syndrome
Hyperkeratosis, Palmoplantar keratoderma ORPHA:2202
Graham Little-Piccardi-Lassueur Syndrome
Perifollicular hyperkeratosis, Pruritus, Alopecia, Sparse pubic hair, Sparse axillary hair, Spars... ORPHA:505
Ichthyosis, Cyclic, With Epidermolytic Hyperkeratosis
Congenital bullous ichthyosiform erythroderma, Palmoplantar hyperkeratosis, Erythema, Ichthyosis OMIM:607602
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Erythema migrans, Pruritus, Parakeratosis, Skin fragility with non-scarring blistering, Skin vesicle ORPHA:158681
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Keloids, Hyperkeratotic papule, Pruritus, Atypical scarring of skin, Localized skin lesion, Skin ... ORPHA:79410
Intellectual Developmental Disorder, Fra12A Type
Hyperkeratosis OMIM:136630
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans OMIM:144150
Verrucous Hemangioma
Epidermal acanthosis, Inflammatory abnormality of the skin, Hyperkeratotic papule ORPHA:464318
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Reticulate Acropigmentation Of Kitamura
Hyperkeratosis OMIM:615537
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Ichthyosis, Congenital, Autosomal Recessive 6
Epidermal acanthosis, Palmoplantar keratoderma, Orthokeratosis, Parakeratosis, Hyperkeratosis, Er... OMIM:612281
Familial Benign Chronic Pemphigus
Erythema, Acantholysis, Hyperkeratosis, Skin vesicle, Skin erosion ORPHA:2841
Ichthyosis Hystrix Of Curth-Macklin
Ichthyosis, Recurrent skin infections, Diffuse palmoplantar hyperkeratosis, Nail dystrophy, Hyper... ORPHA:79503
Ichthyosis, Congenital, Autosomal Recessive 10
Palmoplantar keratoderma, Orthokeratotic hyperkeratosis, Hyperkeratosis, Erythroderma, Generalize... OMIM:615024
Erythrokeratodermia Variabilis
Generalized hirsutism, Abnormality of the nail, Abnormal hair morphology, Erythema, Cutaneous pho... ORPHA:317
Familial Reactive Perforating Collagenosis
Pruritus, Perifolliculitis, Abnormal epidermal morphology, Maculopapular exanthema, Inflammatory ... ORPHA:79147
Infantile Digital Fibromatosis
Hyperkeratosis, Epidermal acanthosis, Parakeratosis ORPHA:199267
Erythrokeratodermia Variabilis Et Progressiva 6
Pruritus, Superficial dermal perivascular inflammatory infiltrate, Parakeratosis OMIM:618531
Dowling-Degos Disease 2
Follicular hyperkeratosis, Hyperkeratotic papule OMIM:615327
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Epidermal acanthosis, Ichthyosis, Orthokeratosis, Parakeratosis, Jaundice, Thick hair, Sparse eye... OMIM:607626
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Epidermal acanthosis, Palmoplantar keratoderma, Onycholysis, Hyperkeratosis, Scaling skin, Leukon... OMIM:616295
Ectodermal Dysplasia/Skin Fragility Syndrome
Palmoplantar hyperkeratosis, Ectodermal dysplasia, Scaling skin, Dystrophic fingernails, Fragile ... OMIM:604536
Dowling-Degos Disease
Epidermoid cyst, Pruritus, Digital pitting scar, Hypopigmented macule, Acne inversa, Skin vesicle... ORPHA:79145
Psoriasis 14, Pustular
Epidermal acanthosis, Parakeratosis, Erythema, Nail dystrophy, Psoriasiform dermatitis, Pustule OMIM:614204
Porokeratosis 3, Multiple Types
Porokeratosis, Nail dystrophy, Parakeratosis OMIM:175900
White Sponge Nevus 2
Epidermal acanthosis, Hyperparakeratosis, Edema OMIM:615785
Pemphigus Foliaceus
Pruritus, Annular cutaneous lesion, Erythema, Acantholysis, Erythematous plaque, Erythroderma, Se... ORPHA:79481
Palmoplantar Keratoderma And Congenital Alopecia 1
Palmoplantar keratoderma, Brittle hair, Epidermal hyperkeratosis, Sparse eyebrow, Nail dysplasia,... OMIM:104100
Epidermolytic Hyperkeratosis
Epidermal acanthosis, Scaling skin OMIM:113800
Epidermolysis Bullosa Dystrophica, Pretibial
Hyperkeratosis, Pruritus, Nail dystrophy OMIM:131850
Palmoplantar Keratoderma, Nagashima Type
Epidermal acanthosis, Orthokeratotic hyperkeratosis, Hypergranulosis OMIM:615598
Ulerythema Ophryogenesis
Sparse lateral eyebrow, Acne, Facial erythema, Miscarriage, Contact dermatitis, Follicular hyperk... ORPHA:3406
Wells Syndrome
Edema, Skin vesicle, Pruritus ORPHA:901
Progressive Symmetric Erythrokeratodermia
Palmoplantar keratoderma, Erythema ORPHA:316
Quinquaud Folliculitis Decalvans
Patchy alopecia, Recurrent skin infections, Abnormal hair morphology, Scarring alopecia of scalp,... ORPHA:346
Congenital Panfollicular Nevus
Hyperkeratosis, Skin nodule, Verrucous papule ORPHA:139414
Erosive Pustular Dermatosis Of The Scalp
Abnormal hair morphology, Scarring alopecia of scalp, Erythema, Pustule ORPHA:222
Peeling Skin Syndrome 5
Hyperkeratosis OMIM:617115
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Pruritus, Superficial dermal perivascular inflammatory infiltrate, Parakeratosis, Psoriasiform le... ORPHA:284426
Aquagenic Palmoplantar Keratoderma
Palmoplantar keratoderma, Orthokeratotic hyperkeratosis, Excessive skin wrinkling on dorsum of ha... ORPHA:498359
Parana Hard Skin Syndrome
Hyperkeratosis, Generalized hirsutism, Thickened skin ORPHA:2812
Netherton Syndrome
Brittle hair, Angioedema, Parakeratosis, Sparse eyebrow, Urticaria, Erythroderma, Hypernatremic d... OMIM:256500
Lichen Planus Pemphigoides
Hyperkeratosis, Pruritus, Skin vesicle ORPHA:254478
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Pruritus, Palmoplantar hyperkeratosis, Dystrophic toenail, Abnormal toenail morphology, Absent to... ORPHA:89838
Ichthyosis, Congenital, Autosomal Recessive 5
Epidermal acanthosis, Palmoplantar keratoderma, Orthokeratosis, Parakeratosis, Erythroderma, Cong... OMIM:604777
Acral Self-Healing Collodion Baby
Erythema, Palmoplantar scaling skin, Lack of skin elasticity ORPHA:281127
Amyloidosis, Primary Localized Cutaneous, 1
Scaling skin, Dry skin, Cutis laxa OMIM:105250
Hyperkeratosis-Hyperpigmentation Syndrome
Hyperkeratosis, Cutaneous photosensitivity ORPHA:1336
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Pruritus, Palmar hyperkeratosis, Nail dystrophy, Hyperkeratosis, Plantar hyperkeratosis, Skin fra... ORPHA:79399
Palmoplantar Carcinoma, Multiple Self-Healing
Epidermal acanthosis, Palmoplantar keratoderma, Parakeratosis, Nail dystrophy, Ectodermal dysplas... OMIM:615225
Idiopathic Localized Lipodystrophy
Pruritus, Erythema, Morphea, Scleroderma, Reduced subcutaneous adipose tissue, Scaling skin, Infl... ORPHA:90158
Pemphigoid Gestationis
Pruritus, Skin vesicle ORPHA:63275
Proliferating Trichilemmal Cyst
Skin ulcer ORPHA:492
Mal De Meleda
Fragile nails, Ichthyosis, Congenital symmetrical palmoplantar keratosis, Perioral erythema OMIM:248300
Ichthyosis, Congenital, Autosomal Recessive 8
Epidermal acanthosis, Ichthyosis, Orthokeratosis, Erythema, Hyperkeratosis, Hypergranulosis OMIM:613943
Transgrediens Et Progrediens Palmoplantar Keratoderma
Recurrent cutaneous fungal infections, Diffuse palmoplantar hyperkeratosis, Dystrophic toenail, P... ORPHA:495
Ichthyosis, Congenital, Autosomal Recessive 2
Small nail, Epidermal acanthosis, Palmoplantar keratoderma, Abnormal hair morphology, Congenital ... OMIM:242100
Peeling Skin Syndrome 1
Pruritus, Brittle hair, Erythema, Onycholysis, Abnormality of hair texture, Scaling skin OMIM:270300
Dermatitis Herpetiformis
Pruritus, Erythema, Macule, Eczema, Edema, Skin vesicle ORPHA:1656
Keratosis Palmoplantaris Striata Ii
Epidermal acanthosis, Palmoplantar keratoderma OMIM:612908
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse
Epidermal acanthosis, Palmoplantar keratoderma OMIM:615735
Sparse lateral eyebrow, Nail dysplasia, Sparse pubic hair, Trichodysplasia, Sparse eyelashes, Sca... OMIM:257960
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Abnormality of the nail, Palmoplantar keratoderma, Scarring alopecia of scalp, Sparse eyebrow, Na... OMIM:308800
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous
Skin ulcer OMIM:245660
Iga Pemphigus
Neutrophilic infiltration of the skin, Pruritus, Cutaneous abscess, Annular cutaneous lesion, Aca... ORPHA:555905
Angioma Serpiginosum, X-Linked
Hyperkeratosis, Sparse hair, Fine hair, Nail dystrophy OMIM:300652
Erythema Elevatum Diutinum
Skin nodule, Skin vesicle, Skin rash ORPHA:90000
Erythrokeratoderma ''En Cocardes''
Hyperkeratosis ORPHA:315
Tylosis With Esophageal Cancer
Diffuse palmoplantar hyperkeratosis, Parakeratosis OMIM:148500
Cutaneous Mastocytoma
Telangiectasia macularis eruptiva perstans, Pruritus, Angioedema, Maculopapular exanthema, Erythe... ORPHA:79455
Acral Peeling Skin Syndrome
Ichthyosis, Erythema, Eczema, Scaling skin, Excessive wrinkling of palmar skin ORPHA:263534
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Recurrent loss of toenails and fingernails, Palmoplantar hyperkeratosis, Erythema, Dystrophic toe... ORPHA:158673
Peeling Skin Syndrome 6
Pruritus, Orthokeratosis, Parakeratosis OMIM:618084
Ichthyosis, Spastic Quadriplegia, And Mental Retardation
Ichthyosis, Erythema, Hyperkeratosis, Scaling skin, Dry skin OMIM:614457
Porokeratosis 7, Multiple Types
Porokeratosis, Parakeratosis OMIM:614714
Autosomal Dominant Epidermolytic Ichthyosis
Palmoplantar keratoderma, Congenital bullous ichthyosiform erythroderma, Ichthyosis, Cutaneous ph... ORPHA:312
Hidrotic Ectodermal Dysplasia
Cobblestone-like hyperkeratosis, Absent pubic hair, Anonychia, Fine hair, Absent axillary hair, A... ORPHA:189
Chilblain Lupus
Cutis marmorata, Pruritis on hand, Hyperkeratosis, Malar rash, Discoid lupus rash, Inflammatory a... ORPHA:90280
Pityriasis Rubra Pilaris
Palmoplantar keratoderma, Orthokeratosis, Parakeratosis, Hypergranulosis, Subungual hyperkeratosis OMIM:173200
Congenital Disorder Of Glycosylation, Type If
Hyperkeratosis, Erythroderma, Scaling skin, Dry skin OMIM:609180
Odontoonychodermal Dysplasia
Epidermal acanthosis, Orthokeratosis, Erythema, Dystrophic toenail, Fine hair, Sparse eyebrow, Sp... OMIM:257980
Elastosis Perforans Serpiginosa
Epidermal acanthosis, Crusting erythematous dermatitis, Cutis laxa, Hyperkeratotic papule ORPHA:79148
Ichthyosis Prematurity Syndrome
Epidermal acanthosis, Pruritus, Dermatographic urticaria, Erythroderma, Polyhydramnios, Generaliz... OMIM:608649
Porokeratosis 1, Multiple Types
Porokeratosis, Parakeratosis OMIM:175800
Dowling-Degos Disease 4
Epidermal acanthosis OMIM:615696
Ectodermal Dysplasia/Short Stature Syndrome
Hyperkeratosis, Epidermal acanthosis, Anonychia, Nail dystrophy OMIM:616029
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Perifolliculitis, Acne inversa, Chronic furunculosis, Follicular hyperkeratosis, Recurrent cutane... OMIM:613736
Superficial Epidermolytic Ichthyosis
Palmoplantar keratoderma, Ichthyosis, Erythema, Acantholysis, Edema ORPHA:455
Ichthyosis Vulgaris
Absent keratohyalin granules, Dry skin OMIM:146700
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
Epidermal acanthosis, Palmoplantar keratoderma, Streaks of hyperkeratosis along each finger onto ... OMIM:148700
Epidermolytic Palmoplantar Keratoderma
Epidermal acanthosis, Epidermal hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Palmoplantar... ORPHA:2199
Trichothiodystrophy 7, Nonphotosensitive
Brittle hair, Ichthyosis, Follicular hyperkeratosis, Congenital nonbullous ichthyosiform erythrod... OMIM:618546
Vohwinkel Syndrome, Variant Form
Hyperkeratosis, Orthokeratosis, Hypergranulosis, Parakeratosis OMIM:604117
Aicardi-Goutieres Syndrome 5
Scaling skin, Dry skin, Thrombocytopenia OMIM:612952
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development
Hyperkeratosis OMIM:618339
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans, Skin ulcer, Pruritus ORPHA:409
Acrokeratosis Verruciformis Of Hopf
Epidermal acanthosis, Anonychia, Punctate palmoplantar hyperkeratosis, Nail dystrophy, Hyperkerat... ORPHA:79151
Sjögren-Larsson Syndrome
Ichthyosis, Erythema, Urticaria, Hyperkeratosis, Dry skin ORPHA:816
Inflammatory Skin And Bowel Disease, Neonatal, 2
Dehydration, Edema, Papule, Pustule OMIM:616069
Ichthyosis With Confetti
Hyperkeratosis, Erythroderma, Palmoplantar hyperkeratosis, Hypertrichosis OMIM:609165
Lichen Planopilaris
Pruritus, Onycholysis, Hyperkeratosis, Alopecia, Skin ulcer, Abnormal fingernail morphology ORPHA:525
Rare Cutaneous Lupus Erythematosus
Neutrophilic infiltration of the skin, Nail bed telangiectasia, Psoriasiform lesion, Maculopapula... ORPHA:535
Skin Fragility-Woolly Hair Syndrome
Woolly hair, Palmoplantar hyperkeratosis, Acantholysis, Sparse eyebrow, Nail dysplasia, Nail dyst... OMIM:607655
Retinitis Pigmentosa 42
Pallor OMIM:612943
Lymphatic Malformation 4
Hyperkeratosis, Lymphedema OMIM:615907
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Dehydration, Death in infancy OMIM:251850
Erythrokeratodermia Variabilis Et Progressiva 1
Erythroderma, Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Hypergranulosis OMIM:133200
Prolidase Deficiency
Generalized hirsutism, Palmoplantar keratoderma, Pruritus, Erythema, White forelock, Cutaneous ph... ORPHA:742
Dermatitis, Atopic
Pruritus, Recurrent skin infections, Ichthyosis, Facial erythema, Eczema, Atopic dermatitis, Pall... OMIM:603165
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Abnormality of the nail, Palmoplantar keratoderma, Sclerodactyly, Sparse eyebrow, Absent hair, Fa... ORPHA:1010
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Palmoplantar keratoderma, Scarring alopecia of scalp, Sparse eyebrow, Nail dysplasia, Facial eryt... OMIM:612843
Retinitis Pigmentosa 81
Pallor OMIM:617871
Lamellar Ichthyosis
Abnormality of the nail, Pruritus, Ichthyosis, Dry skin, Aplasia/Hypoplasia of the eyebrow, Hyper... ORPHA:313
Moynahan Syndrome
Hyperkeratosis, Sparse hair, Alopecia ORPHA:2574
Alpha-Methylacetoacetic Aciduria
Dehydration OMIM:203750
Dermatofibrosarcoma Protuberans
Skin ulcer, Erythema ORPHA:31112
Dystrophic Epidermolysis Bullosa Pruriginosa
Hyperkeratosis, Abnormal toenail morphology, Pruritus, Nail dystrophy ORPHA:89843
Jessner Lymphocytic Infiltration Of The Skin
Erythema, Pruritus, Cutaneous photosensitivity ORPHA:33314
Hypotrichosis And Recurrent Skin Vesicles
Epidermal acanthosis, Leukonychia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse axi... OMIM:613102
Centrifugal Lipodystrophy
Erythema, Reduced subcutaneous adipose tissue, Lack of facial subcutaneous fat, Scaling skin, Inf... ORPHA:90156
Ichthyosis, Congenital, Autosomal Recessive 3
Palmoplantar keratoderma, Ichthyosis, Erythema, Hyperkeratosis, Congenital nonbullous ichthyosifo... OMIM:606545
Ichthyosis, Hystrix-Like, With Deafness
Palmoplantar keratoderma, Ichthyosis, Absent eyelashes, Scarring alopecia of scalp, Sparse eyebro... OMIM:602540
Rothmund-Thomson Syndrome, Type 1
Absent eyelashes, Nail dystrophy, Hyperkeratosis, Absent eyebrow, Thin nail, Sparse hair OMIM:618625
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Absent eyelashes, Nail dysplasia, Absent eyebrow, Nail dystrophy, Erythroderma, Ectodermal dyspla... OMIM:308205
Harlequin Ichthyosis
Ichthyosis, Congenital ichthyosiform erythroderma, Hyperkeratosis, Erythroderma, Dehydration ORPHA:457
Patchy alopecia, Brittle hair, Abnormality of the nail, Abnormal eyelash morphology, Fine hair, S... ORPHA:573
Congenital Factor Xii Deficiency
Penetrating foot ulcers ORPHA:330
Gilbert Syndrome
Dehydration OMIM:143500
Pruritus, Vascular skin abnormality, Predominantly lower limb lymphedema, Hyperkeratosis, Lymphed... ORPHA:182
Basan Syndrome
Epidermal acanthosis, Ectodermal dysplasia, Palmoplantar keratoderma, Nail dystrophy OMIM:129200
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Abnormality of the nail, Parakeratosis, Congenital ichthyosiform erythroderma, Erythema, Hyperker... OMIM:308050
Ectodermal Dysplasia-Syndactyly Syndrome 2
Palmoplantar keratoderma, Congenital bullous ichthyosiform erythroderma, Ectodermal dysplasia, Fo... OMIM:613576
Cutaneous Collagenous Vasculopathy
Bruising susceptibility, Petechiae, Pruritus, Vascular skin abnormality, Erythema, Prominent supe... ORPHA:280779
Pyoderma Gangrenosum
Papule, Pustule, Skin ulcer, Skin vesicle, Atrophic scars ORPHA:48104
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Palmoplantar keratoderma, Erythema, Sparse hair, Alopecia, Skin ulcer, Abnormal fingernail morpho... ORPHA:659
Congenital Disorder Of Glycosylation, Type Iq
Ichthyosis, Cutis laxa, Hyperkeratosis, Eczema, Hypertrichosis OMIM:612379
Keratoderma Hereditarium Mutilans
Abnormality of the nail, Ichthyosis, Honeycomb palmoplantar hyperkeratosis, Abnormal toenail morp... ORPHA:494
Focal Palmoplantar And Gingival Keratoderma
Palmoplantar keratoderma, Focal friction-related palmoplantar hyperkeratosis, Gingival hyperkerat... ORPHA:2200
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Nail dysplasia, Palmar hyperkeratosis, Cutaneous photosensitivity, Nail dystrophy, Plantar hyperk... ORPHA:79397
Neonatal Lupus Erythematosus
Parakeratosis, Maculopapular exanthema, Cutaneous photosensitivity, Hyperkeratosis, Malar rash, S... ORPHA:398124
Pressure-Induced Localized Lipoatrophy
Reduced subcutaneous adipose tissue, Erythema, Inflammatory abnormality of the skin ORPHA:90160
Diarrhea 4, Malabsorptive, Congenital
Dehydration OMIM:610370
Recessive X-Linked Ichthyosis
Hyperkeratosis, Ichthyosis, Dry skin ORPHA:461
Diabetes Mellitus, Transient Neonatal, 1
Dehydration OMIM:601410
Chronic Mucocutaneous Candidiasis
Abnormality of the nail, Pruritus, Broad nail, Erythema, Abnormal toenail morphology, Hyperkerato... ORPHA:1334
Lactase Deficiency, Congenital
Dehydration OMIM:223000
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Palmoplantar keratoderma, Recurrent skin infections, Orthokeratosis, Acantholysis, Erythroderma, ... OMIM:615508
Cutaneous Small Vessel Vasculitis
Cutis marmorata, Recurrent skin infections, Erythema, Urticaria, Purpura, Skin rash ORPHA:889
Diffuse Cutaneous Mastocytosis
Pruritus, Dermatographic urticaria, Urticaria, Darier's sign, Erythroderma, Flushing, Scaling ski... ORPHA:79456
Panniculitis-Induced Localized Lipodystrophy
Vasculitis in the skin, Reduced subcutaneous adipose tissue, Erythema, Inflammatory abnormality o... ORPHA:90159
Chilblain Lupus 1
Skin ulcer OMIM:610448
Vibratory Urticaria
Flushing, Urticaria, Facial erythema OMIM:125630
Mastocytosis, Cutaneous
Telangiectasia macularis eruptiva perstans, Erythema, Urticaria, Edema OMIM:154800
Erythema Nodosum, Familial
Erythema, Erythema nodosum OMIM:132990
Palmoplantar Keratoderma, Epidermolytic
Plantar hyperkeratosis, Palmoplantar hyperkeratosis, Palmar hyperkeratosis, Localized epidermolyt... OMIM:144200
Perifollicular hyperkeratosis, Brittle hair, Nail dysplasia, Nail dystrophy, Abnormality of hair ... OMIM:158000
Keratosis Pilaris Atrophicans
Absent eyelashes, Erythema, Sparse eyebrow OMIM:604093
Ichthyosis, Congenital, Autosomal Recessive 7
Epidermal acanthosis, Palmoplantar keratoderma, Ichthyosis, Erythroderma, Hypergranulosis OMIM:615022
Hypotrichosis With Juvenile Macular Degeneration
Brittle hair, Pili torti, Fine hair, Hyperkeratosis, Sparse scalp hair ORPHA:1573
Pilodental Dysplasia With Refractive Errors
Abnormality of the nail, Brittle hair, Sparse scalp hair, Ectodermal dysplasia, Brittle scalp hai... OMIM:262020
Cutaneous Photosensitivity And Colitis, Lethal
Death in infancy, Erythema, Early cutaneous photosensitivity OMIM:219095
Flynn-Aird Syndrome
Hyperkeratosis, Alopecia of scalp, Alopecia OMIM:136300
Thrombocytopenia, Cyclic
Neutropenia, Cyclic neutropenia, Thrombocytopenia OMIM:188020
Chronic Hiccup
Dehydration ORPHA:396
Maculopapular Cutaneous Mastocytosis
Pruritus, Dermatographic urticaria, Erythema, Darier's sign, Flushing, Generalized abnormality of... ORPHA:79457
Ichthyosis, Congenital, Autosomal Recessive 11
Brittle hair, Pili torti, Congenital ichthyosiform erythroderma, Sparse eyebrow, Hyperkeratosis, ... OMIM:602400
Hidrotic Ectodermal Dysplasia, Halal Type
Absent eyelashes, Supernumerary nipple, Nail dysplasia, Abnormal toenail morphology, Sparse body ... ORPHA:1809
Ectodermal Dysplasia-Skin Fragility Syndrome
Chapped lip, Palmoplantar keratoderma, Recurrent skin infections, Pruritus, Nail dystrophy, Alope... ORPHA:158668
Singleton-Merten Syndrome 2
Hyperkeratosis OMIM:616298
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Combined Malonic And Methylmalonic Aciduria
Dehydration OMIM:614265
Kid Syndrome
Recurrent cutaneous fungal infections, Epidermal acanthosis, Recurrent bacterial skin infections,... ORPHA:477
Palmoplantar Keratoderma, Punctate Type Ia
Hypergranulosis, Orthokeratosis, Punctate palmoplantar hyperkeratosis OMIM:148600
Seborrhea-Like Dermatitis With Psoriasiform Elements
Hyperkeratosis, Seborrheic dermatitis OMIM:610227
Amelo-Onycho-Hypohidrotic Syndrome
Hypoplastic toenails, Fine hair, Onycholysis, Hyperkeratosis, Abnormal fingernail morphology, Dry... ORPHA:1028
Pityriasis Rubra Pilaris
Palmoplantar keratoderma, Pruritus, Ichthyosis, Eczema, Erythroderma, Pustule, Subungual hyperker... ORPHA:2897
Ramon Syndrome
Hyperkeratosis, Telangiectasia of the skin, Generalized hirsutism ORPHA:3019
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Orthokeratosis, Acne inversa, Hypoplastic sweat glands, Nail dystrophy, Hyperkeratosis OMIM:617337
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Dehydration, Neonatal death OMIM:602199
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Brittle hair, Coarse hair, Hyperkeratosis, Hidrotic ectodermal dysplasia, Sparse hair ORPHA:1883
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Skin vesicle, Aplasia/Hypoplasia of the skin, Dermal atrophy, Papule ORPHA:257
Pemphigus Vulgaris
Urticaria, Acantholysis, Recurrent cutaneous abscess formation ORPHA:704
Keratolytic Winter Erythema
Erythema, Pustule ORPHA:50943
Hyperchlorhidrosis, Isolated
Dehydration, Hypernatremic dehydration OMIM:143860
Angioma Serpiginosum
Erythema, Vascular skin abnormality ORPHA:95429
Ichthyosis, Congenital, Autosomal Recessive 9
Epidermal acanthosis, Orthokeratosis, Hyperkeratosis, Erythroderma, Hypergranulosis, Congenital n... OMIM:615023
Epidermolysis Bullosa, Lethal Acantholytic
Absent fingernail, Acantholysis, Anonychia, Alopecia universalis, Alopecia totalis, Neonatal death OMIM:609638
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, T lymphocytopenia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly... ORPHA:169154
Diamond-Blackfan Anemia 18
Neutropenia, Erythroid hypoplasia, Steroid-responsive anemia OMIM:618310
X-Linked Dominant Chondrodysplasia Punctata
Patchy alopecia, Abnormality of the nail, Ichthyosis, Coarse hair, Scarring alopecia of scalp, Ab... ORPHA:35173
Pili Torti-Onychodysplasia Syndrome
Palmoplantar keratoderma, Brittle hair, Absent eyelashes, Congenital onychodystrophy, Sparse body... ORPHA:2890
Orthostatic Hypotensive Disorder, Streeten Type
Bruising susceptibility, Facial erythema OMIM:143850
Meige Disease
Cobblestone-like hyperkeratosis, Recurrent skin infections, Peripheral edema, Pleural effusion, P... ORPHA:90186
Bullous Impetigo
Recurrent bacterial skin infections, Erythema, Pustule ORPHA:36237
Complex Regional Pain Syndrome
Abnormality of hair growth, Slow-growing nails, Erythema, Pedal edema, Edema of the upper limbs, ... ORPHA:83452
Darier-White Disease
Pruritus, Acantholysis, Acrokeratosis, Subungual hyperkeratotic fragments, Ridged nail OMIM:124200
Hyperkeratosis, Pruritus, Cutaneous photosensitivity ORPHA:79358
Necrobiosis Lipoidica
Erythema, Telangiectasia of the skin, Inflammatory abnormality of the skin, Fragile skin, Skin ulcer ORPHA:542592
Trichothiodystrophy 1, Photosensitive
Small nail, Brittle hair, Pili torti, Cutaneous photosensitivity, Congenital nonbullous ichthyosi... OMIM:601675
Leopard Syndrome 3
Epidermal hyperkeratosis, Hyperkeratosis, Curly hair, Dry skin, Low posterior hairline OMIM:613707
Isobutyryl-Coa Dehydrogenase Deficiency
Dehydration ORPHA:79159
Reticular Dysgenesis
Dehydration, Skin ulcer, Skin rash ORPHA:33355
Buerger Disease
Skin ulcer ORPHA:36258
Cyclic Neutropenia
Neutropenia, Cyclic neutropenia OMIM:162800
Specific Granule Deficiency 1
Increased neutrophil ribosomes, Increased neutrophil mitochondria, Impaired neutrophil bactericid... OMIM:245480
Irida Syndrome
Pallor, Hyperkeratosis, Ichthyosis ORPHA:209981
Acrokeratoelastoidosis Of Costa
Epidermal acanthosis, Orthokeratosis, Palmoplantar hyperkeratosis, Hypergranulosis, Hyperkeratoti... ORPHA:38
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Follicular hyperkeratosis, Dry skin OMIM:617066
Primary Erythromelalgia
Erythema, Pruritus ORPHA:90026
Incontinentia Pigmenti
Atrophic, patchy alopecia, Coarse hair, Supernumerary nipple, Erythema, Nail dysplasia, Fine hair... OMIM:308300
Familial Cold Urticaria
Dehydration, Erythema, Pruritus ORPHA:47045
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma
Erythema, Ichthyosis OMIM:609313
Autosomal Dominant Hyper-Ige Syndrome
Pruritus, Papule, Eczema, Skin ulcer, Skin vesicle, Skin rash ORPHA:2314
Idiopathic Trachyonychia
Abnormality of the periungual region, Patchy alopecia, Ichthyosis, Nail pits, Nail dystrophy, Thi... ORPHA:79153
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive
Plantar hyperkeratosis, Nail dystrophy OMIM:616487
Neonatal Inflammatory Skin And Bowel Disease
Recurrent bacterial skin infections, Erythema, Chronic monilial nail infection, Onychogryposis, S... ORPHA:294023
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly OMIM:162830
Erythema Of Acral Regions
Erythema OMIM:227000
Autosomal Erythropoietic Protoporphyria
Pruritus, Cutaneous photosensitivity, Erythema, Eczema, Edema ORPHA:79278
Keratolytic Winter Erythema
Erythema OMIM:148370
Hypohidrotic Ectodermal Dysplasia
Abnormality of the nail, Dry skin, Aplasia/Hypoplasia of the eyebrow, Slow-growing hair, Trichorr... ORPHA:238468
Lipoid Proteinosis
Acne, Hyperkeratosis, Pustule, Alopecia of scalp, Thickened skin ORPHA:530
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Pharyngeal edema, Angioedema, Erythema, Palpebral edema, Tongue edema, Laryngeal edema, Facial edema ORPHA:100057
Skin ulcer, Recurrent cutaneous abscess formation ORPHA:231
Drug-Induced Localized Lipodystrophy
Erythema, Reduced subcutaneous adipose tissue ORPHA:90157
Noonan Syndrome 8
Palmoplantar cutis laxa, Pleural effusion, Hyperkeratosis, Eczema, Polyhydramnios, Curly hair OMIM:615355
Neuropathy, Hereditary Sensory, Type If
Hyperkeratosis OMIM:615632
Familial Renal Glucosuria
Dehydration ORPHA:69076
Mycosis Fungoides
Eczema, Erythema, Psoriasiform dermatitis, Pruritus OMIM:254400
Proteus Syndrome
Hyperkeratosis, Epidermal acanthosis OMIM:176920
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
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Splenomegaly, Neutropenia, Pyoderma gangre... OMIM:150550
Familial Cold Autoinflammatory Syndrome 3
Cold urticaria, Pruritus, Angioedema, Dermatographic urticaria, Erythema OMIM:614468
Huriez Syndrome
Small nail, Epidermal acanthosis, Nail dystrophy, Congenital palmoplantar hyperkeratosis OMIM:181600
Immunodeficiency 58
Cold urticaria, Ichthyosis, Cutaneous abscess, Psoriasiform lesion, Molluscum contagiosum, Cutane... OMIM:618131
Sweet Syndrome
Acne inversa, Acne, Erythematous plaque, Pyoderma gangrenosum, Skin nodule, Pustule, Erythematous... ORPHA:3243
Juvenile Hyaline Fibromatosis
Abnormal hair morphology, Death in infancy, Skin ulcer ORPHA:2028
Protoporphyria, Erythropoietic, 1
Eczema, Erythema, Pruritus, Edema OMIM:177000
Pachyonychia Congenita 2
Palmoplantar hyperkeratosis, Sparse eyebrow, Nail dysplasia, Nail dystrophy, Sparse scalp hair, D... OMIM:167210
Thrombocytopenia 5
Neutropenia, Anemia, Petechiae, Thrombocytopenia OMIM:616216
Pachyonychia Congenita 1
Follicular hyperkeratosis, Palmoplantar hyperkeratosis OMIM:167200
Xeroderma Pigmentosum, Autosomal Dominant, Mild
Erythema OMIM:194400
Ectodermal Dysplasia-Blindness Syndrome
Fine hair, Sparse hair, Hyperkeratosis, Skin ulcer, Abnormal fingernail morphology ORPHA:1806
Lethal Acantholytic Erosive Disorder
Absent fingernail, Absent eyelashes, Absent toenail, Acantholysis, Absent hair, Absent eyebrow, F... ORPHA:158687
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome
Leukonychia, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Hyperkeratotic papule ORPHA:2698
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Palmoplantar hyperkeratosis, Erythema, Flushing, Eczematoid dermatitis, Seborrheic dermatitis, Re... OMIM:259100
Ifap Syndrome 2
Atrichia, Nail dystrophy, Perioral erythema, Ichthyosis follicularis, Sparse hair OMIM:619016
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Cutaneous abscess, Erythema, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Skin rash OMIM:147060
Eczema, Ichthyosis, Scaling skin ORPHA:79323
Hereditary Mucoepithelial Dysplasia
Hyperkeratosis, Sparse hair, Fine hair, Alopecia ORPHA:1839
Familial Keratoacanthoma
Hyperkeratosis, Skin ulcer ORPHA:493
Costello Syndrome
Woolly hair, Hypoplastic toenails, Abnormal hair morphology, Concave nail, Hyperkeratosis, Abnorm... ORPHA:3071
Hereditary Acrokeratotic Poikiloderma
Ichthyosis, Palmoplantar hyperkeratosis, Dystrophic toenail, Erythema, Urticaria, Nail dystrophy,... ORPHA:2907
Incontinentia Pigmenti
Abnormality of the nail, Abnormal hair morphology, Broad nail, Supernumerary nipple, Erythema, Dy... ORPHA:464
Sting-Associated Vasculopathy, Infantile-Onset
Cutis marmorata, Periungual erythema, Nailfold capillary tortuosity, Erythema, Nail dystrophy, Pu... OMIM:615934
Naxos Disease
Epidermal acanthosis, Palmoplantar keratoderma, Woolly hair, Acantholysis, Sparse eyebrow, Sparse... OMIM:601214
Hereditary Sensory And Autonomic Neuropathy Type 1
Hyperkeratosis, Skin ulcer, Penetrating foot ulcers, Poor wound healing ORPHA:36386
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Neonatal death, Polyhydramnios, Aplasia cutis congenita OMIM:612138
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Follicular hyperkeratosis, Bruising susceptibility ORPHA:300179
Milroy Disease
Erysipelas, Predominantly lower limb lymphedema, Hyperkeratosis, Lymphedema, Pedal edema ORPHA:79452
Hennekam-Beemer Syndrome
Pruritus, Erythema, Papule, Macule, Subcutaneous nodule, Skin vesicle ORPHA:2135
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, And Myopathy
Sparse eyebrow, Sparse pubic hair, Highly arched eyebrow, Scaling skin, Absent axillary hair, Dry... OMIM:618419
Aplasia Cutis Congenita
Skin ulcer ORPHA:1114
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hypopigmented skin patches, Hyperkeratosis, Multiple lentigines, Hypermelanotic macule, Cafe-au-l... OMIM:145250
Netherton Syndrome
Acanthosis nigricans, Ichthyosis, Eczema, Erythroderma, Dehydration, Congenital nonbullous ichthy... ORPHA:634
Acrodermatitis Enteropathica
Abnormality of the nail, Erythema, Ridged fingernail, Pustule, Alopecia, Generalized abnormality ... ORPHA:37
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Hyperkeratosis, Telangiectasia of the skin, Lymphedema, Telangiectasia ORPHA:79279
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Patchy alopecia, Eczema, Erythroderma, Alopecia universalis, Scaling skin, Psoriasiform dermatiti... OMIM:606367
Sydenham Chorea
Erythema ORPHA:306731
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome
Skin ulcer ORPHA:2218
Mednik Syndrome
Hyperkeratosis, Ichthyosis ORPHA:171851
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Granulomatous Slack Skin
Erythema, Redundant skin, Cutis laxa ORPHA:33111
Bullous Pemphigoid
Eczema, Erythema, Urticaria, Psoriasiform dermatitis ORPHA:703
Vitamin B12-Responsive Methylmalonic Acidemia
Dehydration ORPHA:28
Inflammatory Skin And Bowel Disease, Neonatal, 1
Perianal erythema, Perioral erythema, Erythroderma, Onychogryposis, Pustule, Paronychia OMIM:614328
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Skin ulcer, Acral ulceration ORPHA:139578
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pancytopenia, Microcytic anemia, Sterile abscess, Hepatosplenomegaly, Thrombocytosis, Pyoderma ga... OMIM:604416
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Eosinophilia, Monocytosis, Thrombocytosis, Congenital agranulocytosis, Neutropenia, Anemia, Acute... OMIM:202700
Petechiae, Pruritus, Erythema nodosum, Maculopapular exanthema, Erythema, Macule, Pedal edema, Jo... ORPHA:324625
Porphyria Cutanea Tarda
Cutaneous abscess, Cutaneous photosensitivity, Poor wound healing, Scaling skin, Hypertrichosis, ... ORPHA:101330
Interstitial Granulomatous Dermatitis With Arthritis
Inflammatory abnormality of the skin, Erythema, Pruritus ORPHA:79099
Microcytic anemia, Abnormal hemoglobin, Splenomegaly, Anemia, Pallor, Skin ulcer, Thrombocytopenia ORPHA:848
Prematurely aged appearance, Fine hair, Telangiectasia of the skin, Skin ulcer, Excessive wrinkle... ORPHA:2500
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Epidermal hyperkeratosis, Absent eyelashes, Sparse eyebrow, Palpebral edema, Reduced subcutaneous... OMIM:137940
Pancytopenia, Abnormal macrophage morphology, Leukopenia, Splenomegaly, Anemia, Pallor, Skin ulce... ORPHA:507
Hemihyperplasia-Multiple Lipomatosis Syndrome
Telangiectasia of the skin, Hyperparakeratosis, Seborrheic dermatitis ORPHA:276280
Transient Neonatal Diabetes Mellitus
Dehydration ORPHA:99886
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Epidermal acanthosis, Pruritus, Superficial dermal perivascular inflammatory infiltrate, Coarse h... ORPHA:83617
Poikiloderma With Neutropenia
Palmoplantar keratoderma, Sparse lateral eyebrow, Sparse eyebrow, Nail dystrophy, Hyperkeratosis,... OMIM:604173
De Sanctis-Cacchione Syndrome
Telangiectasia, Cutaneous photosensitivity, Parakeratosis OMIM:278800
Cardiofaciocutaneous Syndrome 3
Hyperkeratosis, Curly hair OMIM:615279
Corneodermatoosseous Syndrome
Palmoplantar keratoderma, Absent fingernail, Erythema, Abnormal fingernail morphology, Thickened ... ORPHA:3194
Punctate Palmoplantar Keratoderma Type 1
Epidermal acanthosis, Palmoplantar keratoderma, Orthokeratosis, Abnormal epidermal morphology, Pa... ORPHA:79501
Aplasia Cutis-Myopia Syndrome
Skin ulcer ORPHA:1117
Acquired Idiopathic Sideroblastic Anemia
Pancytopenia, Hypochromic anemia, Leukocytosis, Granulocytopenia, Normocytic anemia, Megaloblasti... ORPHA:75564
Pachyonychia Congenita
Palmoplantar keratoderma, Palmar hyperkeratosis, Onychogryposis of fingernail, Nail dystrophy, On... ORPHA:2309
Enteric Anendocrinosis
Dehydration ORPHA:83620
Combined Malonic And Methylmalonic Acidemia
Dehydration ORPHA:289504
Porphyria Variegata
Skin vesicle, Milia, Localized skin lesion, Skin erosion ORPHA:79473
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Palmoplantar keratoderma, Recurrent skin infections, Erythema, Nail dystrophy, Onychogryposis, Al... ORPHA:79396
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Neutropenia, Monocytosis, B lymphocytopenia OMIM:613107
Congenital Enterocyte Heparan Sulfate Deficiency
Dehydration, Edema ORPHA:103910
Combined Oxidative Phosphorylation Deficiency 47
Dehydration OMIM:618958
Linear Verrucous Nevus Syndrome
Hyperkeratosis, Sparse scalp hair ORPHA:2611
Warty Dyskeratoma
Abnormal fingernail morphology, Epidermal thickening, Acantholysis, Acrokeratosis ORPHA:69745
Neutropenia, Severe Congenital, X-Linked
Neutropenia OMIM:300299
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Skin ulcer, Purpura ORPHA:743
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Erysipelas, Chylothorax, Abnormal hair morphology, Abnormal eyelash morphology, Abnormal toenail ... ORPHA:2526
Neutropenia, Lethal Congenital, With Eosinophilia
Neutropenia, Eosinophilia OMIM:257100
Arthrogryposis And Ectodermal Dysplasia
Trichiasis, Nail dysplasia, Absent eyebrow, Hyperkeratosis, Trichodysplasia, Ectodermal dysplasia... OMIM:601701
Isolated Agammaglobulinemia
Abnormal lymphocyte morphology, Recurrent cutaneous abscess formation, Abnormality of neutrophils... ORPHA:229717
Dermatoosteolysis, Kirghizian Type
Skin ulcer, Nail dysplasia, Nail dystrophy OMIM:221810
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Dehydration, Death in infancy, Ichthyosis OMIM:208085
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Skin ulcer, Hepatosplenomegaly, Hemophagocytosis ORPHA:86884
Pachyonychia Congenita 3
Chapped lip, Palmoplantar keratoderma, Palmar hyperkeratosis, Nail dystrophy, Onychogryposis of t... OMIM:615726
Rosaï-Dorfman Disease
Erythema ORPHA:158014
Juvenile Idiopathic Arthritis
Generalized hyperkeratosis, Abnormality of the nail, Thickened skin, Nail pits, Psoriasiform derm... ORPHA:92
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Hyperkeratosis, Cutis marmorata, Frontal upsweep of hair, Broad eyebrow OMIM:301220
Pemphigus Erythematosus
Acantholysis, Malar rash ORPHA:79480
Popov-Chang syndrome
Hyperkeratosis, Coarse hair, Dry skin OMIM:618428
Xeroderma Pigmentosum
Erythema, Cutaneous photosensitivity, Conjunctival telangiectasia, Hyperkeratosis, Telangiectasia... ORPHA:910
Chime Syndrome
Ichthyosis, Erythema, Fine hair, Sparse hair, Hyperkeratosis, Skin ulcer ORPHA:3474
Combined Immunodeficiency Due To Dock8 Deficiency
Skin ulcer, B lymphocytopenia, T lymphocytopenia ORPHA:217390
Reynolds Syndrome
Pruritus, Mucosal telangiectasiae, Sclerodactyly, Jaundice, Telangiectasia of the skin, Ascites, ... ORPHA:779
Premature Aging Syndrome, Penttinen Type
Hyperkeratosis, Sparse hair OMIM:601812
Juvenile Dermatomyositis
Pruritus, Mucosal telangiectasiae, Erythema, Cutaneous photosensitivity, Palpebral edema, Telangi... ORPHA:93672
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Follicular hyperkeratosis, Dry skin ORPHA:486815
Epidermodysplasia Verruciformis, Susceptibility To, 3
Epidermal acanthosis OMIM:618267
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies
Neonatal death, Polyhydramnios OMIM:619602
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Ichthyosis, Trichiasis, Sparse eyebrow, Nail dysplasia, Nail dystrophy, Hyperkeratosis, Sparse ey... OMIM:148210
Pituitary Adenoma 4, Acth-Secreting
Bruising susceptibility, Ecchymosis, Striae distensae, Facial erythema, Poor wound healing, Edema... OMIM:219090
Central Diabetes Insipidus
Dehydration ORPHA:178029
Neutrophilic Dermatosis, Acute Febrile
Acne inversa, Pyoderma gangrenosum, Erythema, Cystic acne OMIM:608068
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Dehydration OMIM:602722
Subcorneal Pustular Dermatosis
Erythema, Pustule, Pruritus ORPHA:48377
Oculocutaneous Albinism Type 1A
Hyperkeratosis, Albinism, Hypopigmentation of hair, Thickened skin ORPHA:79431
Polyarteritis Nodosa
Skin ulcer, Erythema, Cutis marmorata ORPHA:767
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive
Follicular hyperkeratosis OMIM:277350
Fountain Syndrome
Cutis marmorata, Thick eyebrow, Erythema, Synophrys, Facial edema ORPHA:3219
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Chronic neutropenia, Psoriasiform lesion, Autoimmune hemolytic anemia, Autoimmune t... OMIM:614700
Onychogryposis, Pedal, With Keratosis Plantaris And Coarse Hair
Coarse hair, Onychogryposis of toenails, Plantar hyperkeratosis, Sparse hair, Dry hair OMIM:164680
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Pleural effusion, Polyhydramnios, Generalized edema, Stillbirth, Peric... OMIM:618773
Methylmalonyl-Coa Epimerase Deficiency
Dehydration OMIM:251120
Fixed Drug Eruption
Generalized abnormality of skin, Erythema, Crusting erythematous dermatitis ORPHA:293812
Restrictive Dermopathy
Dermal translucency, Generalized hyperkeratosis, Epidermal hyperkeratosis, Aplasia/Hypoplastia of... ORPHA:1662
Isovaleric Acidemia
Dehydration OMIM:243500
Bare Lymphocyte Syndrome, Type I
Skin ulcer OMIM:604571
Ollier Disease
Anemia, Skin ulcer ORPHA:296
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Neutropenia, Acute myeloid leukemia OMIM:607847
Bacterial Toxic-Shock Syndrome
Increased circulating metamyelocyte count, Ecchymosis, Increased circulating myelocyte count, Abs... ORPHA:36234
Syndromic Recessive X-Linked Ichthyosis
Hyperkeratosis, Ichthyosis ORPHA:281090
Dyskeratosis Congenita
Palmoplantar keratoderma, Hypopigmented skin patches, Macule, Hypermelanotic macule, Skin ulcer, ... ORPHA:1775
Prolidase Deficiency
Petechiae, Eczema, Prolonged neonatal jaundice, Diffuse telangiectasia, Facial hirsutism, Skin ul... OMIM:170100
Glutamine Deficiency, Congenital
Neonatal death, Erythema OMIM:610015
Immunodeficiency, Common Variable, 12, With Autoimmunity
Pyoderma gangrenosum, Thrombocytopenia, Autoimmune hemolytic anemia OMIM:616576
Rothmund-Thomson Syndrome Type 2
Aplasia/Hypoplasia of the eyebrow, Erythema, Nail dysplasia, Facial erythema, Plantar hyperkerato... ORPHA:221016
Snakebite Envenomation
Erythema, Ecchymosis, Angioedema, Edema ORPHA:449285
Immunoglobulin A Vasculitis
Bruising susceptibility, Angioedema, Vascular skin abnormality, Erythema, Urticaria, Pustule, Ski... ORPHA:761
Hypercalcemia, Infantile, 1
Dehydration OMIM:143880
Autoinflammation With Arthritis And Dyskeratosis
Follicular hyperkeratosis, Epidermal acanthosis, Palmoplantar hyperkeratosis, Dry skin OMIM:617388
Autosomal Agammaglobulinemia
Dehydration, Recurrent skin infections, Skin rash ORPHA:33110
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Ichthyosis, Abnormal toenail morphology, Hyperkeratosis, Alopecia, Sparse hair ORPHA:1005
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Dehydration, Neonatal death, Oligohydramnios OMIM:263200
Kanzaki Disease
Telangiectasia of the oral mucosa, Hyperkeratosis, Lymphedema, Angiokeratoma corporis diffusum, L... OMIM:609242
Cardiofaciocutaneous Syndrome
Palmoplantar keratoderma, Brittle hair, Dry skin, Ichthyosis, Aplasia/Hypoplasia of the eyebrow, ... ORPHA:1340
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Epidermal acanthosis, Hyperkeratosis, Pustule, Joint swelling, Skin rash OMIM:612852
Glucose/Galactose Malabsorption
Hypertonic dehydration OMIM:606824
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Dehydration ORPHA:79312
Gaucher Disease, Perinatal Lethal
Petechiae, Ichthyosis, Nonimmune hydrops fetalis, Hyperkeratosis, Polyhydramnios, Ascites, Neonat... OMIM:608013
Congenital Disorder Of Glycosylation, Type Iil
Hyperkeratosis, Death in infancy, Dry skin, Peau d'orange OMIM:614576
Adult-Onset Still Disease
Joint swelling, Erythema, Pruritus, Skin rash ORPHA:829
Werner Syndrome
Premature graying of hair, Pili torti, Prematurely aged appearance, White forelock, Miscarriage, ... ORPHA:902
Corticosterone Methyloxidase Type Ii Deficiency
Dehydration OMIM:610600
Lig4 Syndrome
Telangiectasia of the skin, Erythema, Low anterior hairline, Cutaneous photosensitivity ORPHA:99812
Corticosterone Methyloxidase Type I Deficiency
Dehydration OMIM:203400
Kindler Epidermolysis Bullosa
Palmoplantar keratoderma, Recurrent skin infections, Abnormal toenail morphology, Erythema, Cutan... ORPHA:2908
Rothmund-Thomson Syndrome Type 1
Aplasia/Hypoplasia of the eyebrow, Nail dysplasia, Facial erythema, Plantar hyperkeratosis, Spars... ORPHA:221008
Vitamin B12-Unresponsive Methylmalonic Acidemia
Dehydration ORPHA:27
Microvillus Inclusion Disease
Dehydration, Pruritus ORPHA:2290
Autosomal Dominant Severe Congenital Neutropenia
Eosinophilia, Monocytosis, Leukemia, Acute myeloid leukemia, Neutropenia, Pyoderma gangrenosum, A... ORPHA:486
Chronic Actinic Dermatitis
Epidermal acanthosis, Pruritus, Cutaneous photosensitivity, Eczema, Erythroderma, Late onset atop... ORPHA:330064
Limited Cutaneous Systemic Sclerosis
Skin ulcer ORPHA:220402
Congenital Short Bowel Syndrome
Dehydration OMIM:615237
Spinocerebellar Ataxia 34
Hyperkeratosis OMIM:133190
Donohue Syndrome
Hyperkeratosis, Acanthosis nigricans, Nail dysplasia, Hypertrichosis OMIM:246200
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Perianal erythema, Perioral erythema, Alopecia of scalp, Dry skin, Paronychia OMIM:201100
Graft Versus Host Disease
Hepatosplenomegaly, Scaling skin, Hemophagocytosis ORPHA:39812
Aicardi-Goutieres Syndrome 1
Petechiae, Chilblains, Erythema, Prolonged neonatal jaundice, Acrocyanosis, Purpura OMIM:225750
Naegeli-Franceschetti-Jadassohn Syndrome
Dry skin, Palmoplantar hyperkeratosis, Dystrophic toenail, Punctate palmoplantar hyperkeratosis, ... ORPHA:69087
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Abnormality of the nail, Ichthyosis, Hyperconvex fingernails, Abnormal hair morphology, Thin eyeb... ORPHA:2273
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Dehydration OMIM:264350
Elliptocytosis 1
Pallor, Elliptocytosis, Splenomegaly, Hemolytic anemia OMIM:611804
Bone Marrow Failure Syndrome 3
Small nail, Aplasia/Hypoplasia of the eyebrow, Nail dystrophy, Hyperkeratosis, Eczema, Sparse hair OMIM:617052
Autosomal Dominant Cerebellar Ataxia
Hyperkeratosis, Erythema ORPHA:99
Focal Facial Dermal Dysplasia Type Iv
Abnormal mast cell morphology, Abnormal epidermal morphology ORPHA:398189
Chondrodysplasia Punctata, Autosomal Dominant
Hyperkeratosis with erythema, Coarse hair, Sparse hair OMIM:118650
Behcet Syndrome
Patchy alopecia, Erythema, Erythema nodosum OMIM:109650
Tyrosinemia Type 2
Hyperkeratosis, Abnormality of the nail, Palmoplantar keratoderma ORPHA:28378
Anemia, Sideroblastic, 5
Neutropenia, Anemia, Thrombocytopenia, Reduced hematocrit, Hypochromic microcytic anemia OMIM:619523
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Telangiectasia of the oral mucosa, Hyperkeratosis, Telangiectasia of the skin, Lymphedema, Angiok... ORPHA:79280
Microscopic Polyangiitis
Cutis marmorata, Erythema, Skin ulcer, Subcutaneous hemorrhage, Skin rash ORPHA:727
Angioedema, Hereditary, 1
Pharyngeal edema, Angioedema, Erythema, Periorbital edema, Intestinal edema, Laryngeal edema OMIM:106100
Toxic Epidermal Necrolysis
Skin ulcer, Erythema, Acantholysis ORPHA:537
Generalized Pseudohypoaldosteronism Type 1
Dehydration, Atopic dermatitis, Pustule ORPHA:171876
Abnormality of the nail, Pruritus, Erythema, Cutaneous photosensitivity, Telangiectasia of the sk... ORPHA:221
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Small nail, Palmoplantar keratoderma, Orthokeratotic hyperkeratosis, Sclerodactyly, Nail dystrophy OMIM:610644
Hereditary Spherocytosis
Reticulocytosis, Increased mean corpuscular hemoglobin concentration, Splenomegaly, Spherocytosis... ORPHA:822
Leukocyte Adhesion Deficiency, Type I
Skin ulcer, Leukocytosis, Rectal abscess OMIM:116920
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Dehydration OMIM:177735
Sunct Syndrome
Flushing, Facial edema, Palpebral edema, Facial erythema ORPHA:57145
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Abnormal neutrophil count, Myeloproliferative disorder, Splenomegaly, Acute leukemi... ORPHA:3226
Attenuated Chédiak-Higashi Syndrome
Skin ulcer ORPHA:352723
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hyperkeratosis, Death in infancy ORPHA:163966
Sialidosis Type 1
Hyperkeratosis, Vascular skin abnormality ORPHA:812
Rat-Bite Fever
Erythema nodosum, Maculopapular exanthema, Morbilliform rash, Scaling skin, Pustule, Skin rash ORPHA:31205
Oral Erosive Lichen
Erythema, Dry skin ORPHA:31142
Localized Scleroderma
Abnormality of skin adnexa morphology, Patchy alopecia, Erythema, Thickened skin ORPHA:90289
Noonan Syndrome 10
Palmoplantar cutis laxa, Sparse eyebrow, Pleural effusion, Hyperkeratosis, Increased nuchal trans... OMIM:616564
Recurrent bacterial skin infections, Cobblestone-like hyperkeratosis, Prominent superficial veins ORPHA:2583
Leukocyte Adhesion Deficiency Type Ii
Skin vesicle, Palpebral edema ORPHA:99843
Ramon Syndrome
Hyperkeratosis, Telangiectasia, Angiokeratoma, Hypertrichosis OMIM:266270
Noonan Syndrome 2
Palmoplantar cutis laxa, Sparse eyebrow, Hyperkeratosis, Polyhydramnios, Increased nuchal translu... OMIM:605275
Kcnq2-Related Epileptic Encephalopathy
Pallor, Cerebral edema, Facial erythema ORPHA:439218
Hyperimmunoglobulinemia D With Periodic Fever
Urticaria, Acrocyanosis, Erythema, Purpura ORPHA:343
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Dehydration OMIM:560000
Tempi Syndrome
Telangiectasia, Transudative pleural effusion, Facial erythema, Ascites ORPHA:284227
Early-Onset Familial Hypoaldosteronism
Dehydration ORPHA:556030
Propionic Acidemia
Dehydration, Eczema OMIM:606054
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Dehydration OMIM:251000
Adult Syndrome
Abnormality of the nail, Absent nipple, Sparse scalp hair, Fine hair, Nail pits, Hypoplastic nipp... ORPHA:978
Drug Reaction With Eosinophilia And Systemic Symptoms
Angioedema, Erythema, Erythroderma, Pustule, Skin rash ORPHA:139402
Neuropathy, Hereditary Sensory And Autonomic, Type Ic
Skin ulcer OMIM:613640
X-Linked Severe Congenital Neutropenia
Neutropenia, Monocytopenia ORPHA:86788
Dermatoosteolysis, Kirghizian Type
Skin ulcer, Dystrophic toenail, Dystrophic fingernails, Abnormality of the nail ORPHA:1657
Abnormality of skin physiology, Skin ulcer, Cutis marmorata ORPHA:280062
Stevens-Johnson Syndrome
Erythema, Acantholysis ORPHA:36426
Immunodeficiency 21
Neutropenia, Abnormal natural killer cell morphology, Myeloid leukemia, Aplastic anemia, Monocyto... OMIM:614172
Flynn-Aird Syndrome
Skin ulcer, Alopecia ORPHA:2047
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2