Molecular basis and inheritance patterns of amyloidosis cutis dyschromica

Extract Conflict of interest: the authors declare that they have no conflicts of interest. Primary localized cutaneous amyloidosis (PLCA) refers to a group of chronic itchy skin disorders characterized by amyloid deposits in the upper dermis. Familial PLCA results from either dominant or recessive mutations in OSMR, encoding oncostatin M receptor beta, or less commonly, from autosomal dominant mutations in IL31RA, encoding interleukin‐31 receptor alpha.1 Amyloidosis cutis dyschromica (ACD) is another rare variant of PLCA, characterized by reticular areas of hyperpigmentation with overlying hypopigmented macules and localized keratinocyte‐derived amyloid deposition within the papillary dermis.2 Most cases of ACD result from autosomal recessive mutations in GPNMB, encoding glycoprotein nonmetastatic gene B,3 4 although semidominant mutations with some heterozygotes displaying a milder phenotype have also been documented.5 We present an extended Thai family in which ACD was present in five individuals over two generations, with a seemingly autosomal dominant mode of inheritance, potentially adding further complexity to the genotype–phenotype correlation of this condition.

วารสาร : Clinical and Experimental Dermatology, Volume 45, Issue 5, 1 July 2020, Pages 650–653, https://doi.org/10.1111/ced.14183

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