Skin fragility-woolly hair-palmoplantar keratoderma syndrome

Orpha code: 293165OMIM code: 607655

Definition

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
Classification

Disease

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

No additional description.

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