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Updated: Feb 4, 2026

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
Primary Localized Cutaneous Amyloidosis Affecting Female Individuals of a Pakistani Pedigree
Bevin Bhoyrul1, Alicia Ng1, Philip M Laws1
1Department of Dermatology, Chapel Allerton Hospital, Leeds, United Kingdom.
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.
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