Hypopigmentation-punctate palmoplantar keratoderma syndrome

Orpha code: 324561OMIM code: 615522

Definition

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.

Disease data
Classification

Disease

Synonyms
Cole disease
Choroba Cole'a
Guttate hypopigmentation and punctate palmoplantar keratoderma
Hipopigmentacja i punktowe rogowacenie dłoni i podeszw
Guttate hypopigmentation and punctate palmoplantar keratoderma
Hypopigmentation and punctate keratosis of the palms and soles
ORPHA code
324561
OMIM code
615522
ICD10 code
Q82.8
ICD11 code
-

No additional description.

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl