Primary Localized Cutaneous Amyloidosis Affecting Female Individuals of a Pakistani Pedigree

Am J Dermatopathol. 2019 May;41(5):382-385. doi: 10.1097/DAD.0000000000001288.

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.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Amyloidosis, Familial / pathology*
  • Female
  • Humans
  • Pakistan
  • Pedigree
  • Phenotype
  • Skin Diseases, Genetic / pathology*

Supplementary concepts

  • Amyloidosis, Primary Cutaneous