A 9-year-old girl with blisters on the hands and face: An early presentation of variegate porphyria.

Autor: Moshayedi A; School of Medicine, Virginia Commonwealth University, Richmond, Virginia, USA., Mochel MC; Departments of Pathology and Dermatology, Virginia Commonwealth University, Richmond, Virginia, USA., Brooks AN; Department of Pediatric Genetics, Virginia Commonwealth University, Richmond, Virginia, USA., Laver J; Division of Pediatric Hematology/Oncology and Stem Cell Transplantation, Virginia Commonwealth University, Richmond, Virginia, USA., Salkey KS; Department of Dermatology, Virginia Commonwealth University, Richmond, Virginia, USA.
Jazyk: angličtina
Zdroj: Pediatric dermatology [Pediatr Dermatol] 2023 Mar; Vol. 40 (2), pp. 326-329. Date of Electronic Publication: 2022 Sep 30.
DOI: 10.1111/pde.15150
Abstrakt: 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.
(© 2022 The Authors. Pediatric Dermatology published by Wiley Periodicals LLC.)
Databáze: MEDLINE
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