Bhoyrul Bevin, Ng Alicia, Laws Philip M, Mathew Bipin, Shanmugam Sangeetha
Department of Dermatology, Chapel Allerton Hospital, Leeds, United Kingdom.
Department of Histopathology, St James's University Hospital, Leeds, United Kingdom.
Am J Dermatopathol. 2019 May;41(5):382-385. doi: 10.1097/DAD.0000000000001288.
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.
原发性局限性皮肤淀粉样变是一组罕见疾病，其中淀粉样蛋白沉积仅限于皮肤，无全身表现。大多数病例为散发性；然而，抑瘤素M受体（OSMR）和白细胞介素-31受体A（IL31RA）基因的突变可导致高达10%的病例出现家族性形式的该病。在此，我们描述了一个家族，其中8名女性个体患有斑状淀粉样变或皮肤异色性淀粉样变。据我们所知，尚未有关于1个家系中原发性局限性皮肤淀粉样变的性别特异性表达或2种不同表型共存的报道。
