Skin fragility-woolly hair-palmoplantar keratoderma syndrome

Orpha code: 293165OMIM code: 607655

Definicja

Skin fragility-woolly hair-palmoplantar keratoderma syndrome is a rare, genetic, ectodermal dysplasia syndrome characterized by persistent skin fragility which manifests with blistering and erosions due to minimal trauma, woolly hair with variable alopecia, hyperkeratotic nail dysplasia, diffuse or focal palmoplantar keratoderma with painful fissuring, and no cardiac abnormalities. Perioral hyperkeratosis may also be associated.

Disease data
Klasyfikacja

Disease

Synonimy
Skin fragility-woolly hair-palmoplantar hyperkeratosis syndrome
Zespół krucha skóra-włosy wełniste-hiperkeratoza dłoniowo-podeszwowa
Kod ORPHA
293165
Kod OMIM
607655
Kod ICD10
Q82.8
Kod ICD11
-

No additional description.

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