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CASE REPORT
Year : 2020  |  Volume : 21  |  Issue : 1  |  Page : 63-65

Poikiloderma with novel gene mutation


Department of Dermatology, Seth GS Medical College and KEM Hospital, Mumbai, Maharashtra, India

Correspondence Address:
Dr Anuja Sunkwad
Department of Dermatology, Seth GS Medical College and KEM Hospital, Parel, Mumbai - 400 012, Maharashtra
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/ijpd.IJPD_98_19

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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.


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