Familial primary cutaneous amyloidosis: Caspase activation may be involved in amyloid formation

Abstract

Primary localized cutaneous amyloidosis (PLCA) is a rare form of cutaneous amyloidosis, characterized by the presence of flat-topped papules and macules with amyloid deposits in the superficial dermis. It is a purely cutaneous disease with no association with systemic forms of amyloidosis.1 Although most cases are sporadic, familial cases (FPLCA) represent about 10% of total reports and show an autosomal dominant inheritance, with mutations described in the genes for the oncostatin M receptor (OSMR) and the interleukin-31 receptor A (IL31RA).2 Herein, we present a family affected by FPLCA and underline the role of caspase activation in amyloid formation.