Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome

Orpha code: 444138OMIM code: 616295

Definicja

A rare genetic skin disease characterized by generalized skin peeling, leukonychia, acral punctate keratoses coalescing into focal keratoderma on the weight-bearing areas, angular cheilitis, and knuckle pads with multiple hyperkeratotic micropapules. The skin appears dry and scaly with superficial exfoliation and underlying erythema. Histopathologic examination of affected skin areas shows hyperkeratosis, acanthosis, and intraepidermal clefting with irregular acantholysis. Additional systemic abnormalities are absent.

Disease data
Klasyfikacja

Disease

Synonimy
PLACK syndrome
Zespół plACK
Kod ORPHA
444138
Kod OMIM
616295
Kod ICD10
Q82.8
Kod ICD11
-

No additional description.

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