毛发上皮瘤和咖啡斑作为遗传性错配修复缺陷（CMMRD）综合征的先兆体征——病例报告

Pilomatricomas and café au lait macules as herald signs of constitutional mismatch repair deficiency (CMMRD) syndrome-A case report.

作者信息

Gupta Ankan, George Renu, Aboobacker Fouzia Nambiathayil, ThamaraiSelvi Bernice, Priscilla Anne Jennifer

机构信息

Department of Dermatology, CMC Hospital, Vellore, India.

Department of Haematology, CMC Hospital, Vellore, India.

出版信息

Pediatr Dermatol. 2020 Nov;37(6):1139-1141. doi: 10.1111/pde.14332. Epub 2020 Sep 2.

DOI:10.1111/pde.14332

PMID:32876971

Abstract

Constitutional mismatch repair deficiency (CMMRD) syndrome results from bi-allelic mutations in DNA mismatch repair genes-MLH1, MSH2, MSH6, or PMS2. We present two siblings with CMMRD having p.Arg802Ter (c.2404C >T) homozygous mutations in PMS2 exon 14 with typical cutaneous features. This case report highlights the role of the dermatologist in early diagnosis of this condition.

摘要

先天性错配修复缺陷（CMMRD）综合征由DNA错配修复基因（MLH1、MSH2、MSH6或PMS2）的双等位基因突变引起。我们报告了两名患有CMMRD的兄弟姐妹，他们在PMS2外显子14中存在p.Arg802Ter（c.2404C>T）纯合突变，并具有典型的皮肤特征。本病例报告强调了皮肤科医生在该疾病早期诊断中的作用。