A rare case of acute intermittent porphyria with ichthyosis vulgaris in a young boy

A rare case of acute intermittent porphyria with ichthyosis vulgaris in a young boy

Acute intermittent porphyria (AIP) and ichthyosis vulgaris both are autosomal dominant disorders with incomplete penetrance caused by the deficiency of porphobilinogen deaminase enzyme and filaggrin protein, respectively. We report a rare case of a 9-year-old boy having two genetic diseases with an...

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Bibliographic Details
Main Authors: Garima Agrawal Varshney, Purti Agrawal Saini, Upendra Ghure
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2018-01-01
Series:Journal of Family Medicine and Primary Care
Subjects:
Acute intermittent porphyria
filaggrin
ichthyosis vulgaris
porphobilinogen
Online Access:http://www.jfmpc.com/article.asp?issn=2249-4863;year=2018;volume=7;issue=1;spage=261;epage=263;aulast=Varshney

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http://www.jfmpc.com/article.asp?issn=2249-4863;year=2018;volume=7;issue=1;spage=261;epage=263;aulast=Varshney

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