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Pilomatricomas and café au lait macules as herald signs of constitutional mismatch repair deficiency (CMMRD) syndrome—A case report
Author(s) -
Gupta Ankan,
George Renu,
Aboobacker Fouzia Nambiathayil,
ThamaraiSelvi Bernice,
Priscilla Anne Jennifer
Publication year - 2020
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/pde.14332
Subject(s) - pms2 , msh6 , msh2 , medicine , mlh1 , dermatology , exon , dna mismatch repair , genetics , gene , cancer , biology , colorectal cancer
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.