Pilomatricomas and café au lait macules as herald signs of constitutional mismatch repair deficiency (CMMRD) syndrome—A case report. Issue 6 (2nd September 2020)

• Record Type: Journal Article
• Authors: Gupta, Ankan; George, Renu; Aboobacker, Fouzia Nambiathayil; ThamaraiSelvi, Bernice; Priscilla, Anne Jennifer
• Is Part Of: Pediatric dermatology. Volume 37:Issue 6(2020)
• Page Start: 1139
• Page End: 1141
• Publication Date: 2020-09-02
• Subjects: constitutional mismatch repair deficiency syndrome -- café au lait macules -- pilomatricomas; Pediatric dermatology -- Periodicals; Children -- Diseases -- Periodicals; 618.925
• DOI: 10.1111/pde.14332
• Languages: English
• ISSNs: 0736-8046

Abstract

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.