Hypopigmentation-punctate palmoplantar keratoderma syndrome

Orpha code: 324561OMIM code: 615522

Definicja

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
Klasyfikacja

Disease

Synonimy
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
Kod ORPHA
324561
Kod OMIM
615522
Kod ICD10
Q82.8
Kod ICD11
-

No additional description.

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