Hypopigmentation-punctate palmoplantar keratoderma syndrome

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Name:
Hypopigmentation-punctate palmoplantar keratoderma syndrome
Description:
A rare, genetic, epidermal disease characterized by punctate keratoderma on palms and soles associated with irregularly shaped hypopigmented macules (typically localized on the extremities). Ectopic calcification (e.g. early-onset calcific tendinopathy, calcinosis cutis) and pachyonychia may be occasionally associated.
ORPHAcode:
324561
Synonyms:
Cole disease
Guttate hypopigmentation and punctate palmoplantar keratoderma
Hypopigmentation and punctate keratosis of the palms and soles
XREF(s):
Analyte(s):
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14