Poikiloderma with novel gene mutation

Abstract

Poikiloderma is characterized by mottled pigmentation, telangiectasia, and epidermal atrophy. It is a common cutaneous finding in a number of genodermatoses. We present a case of a 13-month-old male child with poikiloderma, heat intolerance, and photosensitivity, which made us evaluate him for poikiloderma-associated syndromes. The diagnosis of Hereditary Fibrosing Poikiloderma (HFP) was done based on the genetic study which showed mutation in FAM 111B gene.

Keywords

• anhidrosis
• fam 111b gene
• fibrosis
• poikiloderma