Poikiloderma with novel gene mutation

Autor: Sunanda Mahajan, Anuja Sunkwad, Bhushan Darkase, Uday Khopkar
Jazyk: angličtina
Rok vydání: 2020
Předmět:
Zdroj: Indian Journal of Paediatric Dermatology, Vol 21, Iss 1, Pp 63-65 (2020)
Druh dokumentu: article
ISSN: 2319-7250
DOI: 10.4103/ijpd.IJPD_98_19
Popis: 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.
Databáze: Directory of Open Access Journals
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