Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome
ORPHA:444138· ICD-10 Q82.8
Definition
A rare genetic skin disease characterized by generalized skin peeling or superficial blisters without scarring, leukonychia, acral punctate keratoses coalescing into focal keratoderma on the weight-bearing areas, painful 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 is not specific and shows hyperkeratosis, acanthosis, and occasional intraepidermal clefting with irregular acantholysis.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy