A 9-year-old girl with blisters on the hands and face: An early presentation of variegate porphyria.
作者信息
Moshayedi Aref, Mochel Mark C, Brooks Amy N, Laver Joseph, Salkey Kimberly S
机构信息
School of Medicine, Virginia Commonwealth University, Richmond, Virginia, USA.
Departments of Pathology and Dermatology, Virginia Commonwealth University, Richmond, Virginia, USA.
出版信息
Pediatr Dermatol. 2023 Mar;40(2):326-329. doi: 10.1111/pde.15150. Epub 2022 Sep 30.
Variegate porphyria (VP) is a rare subtype of porphyrias characterized by dysfunction of enzymes in the heme biosynthesis pathway leading to an accumulation of porphyrins and their precursors. The resulting buildup can manifest as neuropsychiatric symptoms and photosensitive blistering eruptions on sun-exposed skin. We report a case of VP in a 9-year-old girl with many confounding medical factors that warranted alternative explanations for her cutaneous lesions. VP has been reported infrequently in the pediatric population and is associated with more severe neuropsychiatric outcomes compared to adult-onset disease.
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