Open AccessA rare case of acute intermittent porphyria with ichthyosis vulgaris in a young boy
Author(s) -
Garima Varshney,
Purti Agrawal Saini,
Upendra Ghure
Publication year - 2018
Publication title -
journal of family medicine and primary care
Language(s) - English
Resource type - Journals
eISSN - 2278-7135
pISSN - 2249-4863
DOI - 10.4103/jfmpc.jfmpc_141_17
Subject(s) - medicine , acute intermittent porphyria , ichthyosis , dermatology , porphyria , penetrance , porphobilinogen deaminase , pediatrics , abdominal pain , porphobilinogen , genetics , biology , gene , phenotype
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 unclear association. An acute attack of AIP is characterized by gastrointestinal symptoms and neuropsychiatric manifestations. Although rare in the first decade of life, the presence of reddish urine with a typical presentation such as abdominal pain, hypertension, seizure, and paresthesias lead us to the diagnosis of AIP. The precipitating factor in the present case was prolonged fasting in Ramadan.