Porphyria cutanea tarda: A novel mutation

Pediatric Hematology Oncology Journal

Dinesh Asati¹  Garima Goel²  Ujjawal Khurana²  Rajesh Patil³  Bhavna Dhingra³  Girish Chandra Bhatt³ 

[1] Department of Dermatology, All India Institute of Medical Sciences, Bhopal, India;Department of Pathology, All India Institute of Medical Sciences, Bhopal, India;Department of Pediatrics, All India Institute of Medical Sciences, Bhopal, India;

关键词: Porphyria;    Mutation;    Uroporphyrinogen decarboxylase;   

DOI  :  10.1016/j.phoj.2016.04.001

来源: DOAJ

【 摘 要 】

A 5 year old child with waxing and waning vesicobullous lesions on exposed parts since two years. Blood porphyrin levels were increased and Woods lamp revealed erythrodontia. DNA analysis showed the child was homozygous and both parents were heterozygous for a novel pathogenic mutation V256M in uroporphyrinogen decarboxylase gene, thus diagnosed as type II recessive form of porphyria cutanea tarda. The child responded to sunscreens and antioxidants.

【 授权许可】

Unknown