Primary Localized Cutaneous Amyloidosis Affecting Female Individuals of a Pakistani Pedigree. (May 2019) - Bhoyrul, Bevin
Abstract : Abstract: Primary localized cutaneous amyloidosis is a group of rare conditions where amyloid deposition is limited to the skin without systemic manifestations. Most cases are sporadic; however, mutations in the oncostatin M receptor ( OSMR ) and interleukin-31 receptor A ( IL31RA ) genes can cause a familial form of the condition in up to 10% of cases. Here, we describe a family in which 8 female individuals are affected by either macular amyloidosis or amyloidosis cutis dyschromica. To the best of our knowledge, a sex-specific expression or the coexistence of 2 different phenotypes of primary localized cutaneous amyloidosis in 1 pedigree has not yet been reported.