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

Pediatric dermatology - 1 Nov 2020

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

Abstract excerpt

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.

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PMID: 32876971
DOI: 10.1111/pde.14332

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