Atypical dermal melanocytosis: diagnostic clue in constitutional mismatch repair deficiency syndrome

Abstract

A twenty-three month old female presented with abnormal pigmentation since birth. She had a past history of mediastinal non-Hodgkin's lymphoma diagnosed at the age of 9 months and treated with surgery and chemotherapy. Family history revealed that her grandfathers were brothers, and both died of colon cancer in their fifth decade. Parents were both fit and well in their early thirties.

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