Painful punctate palmoplantar keratoderma due to heterozygous mutations in AAGAB

Abstract

Punctate palmoplantar keratoderma (PPPK) is a rare, autosomal dominant disorder of keratinization with three main variants. PPPK type 1 (MIM 148600), also known as Buschke‐Fischer‐Brauer disease, is characterized by the progressive development of multiple small hyperkeratotic papules with central indentations that are irregularly distributed on the palms and soles, often deteriorating to more extensive diffuse hyperkeratosis on the weight‐bearing areas of plantar skin. The PPPK1 gene was recently identified as the α and γ‐adaptin binding protein p34 gene AAGAB, and in a single case, the COL14A1 gene.

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