A Shared Pathogenesis? Elastic Tissue Degeneration in Two Generations: Co‐Occurrence of Acrokeratoelastoidosis and ARCL1A Cutis Laxa

Abstract

ABSTRACT AKE and cutis laxa type ARCL1A are both disorders of elastic fibers characterized histologically by elastin degeneration and/or fragmentation. However, the pathogenesis is thought to be distinct. AKE is an autosomal dominant disorder with an unknown gene mutation. On the other hand, cutis laxa type ARCL1A represents a fibulin five gene mutation. Herein, we present a lady with AKE, and the family history revealed a son with genetically confirmed cutis laxa type ARCL1A. This report might give insight towards the possibility of fibulin gene alterations in the pathogenesis of AKE.

Keywords

• Acokeratoelastidosis
• cutis laxa syndrome
• Genodermatoses
• Genodermatosis
• marginal papular keratoderma
• punctuate Palmplanter keratoderma type 3