Your browser doesn't support javascript.
loading
A 9-year-old girl with blisters on the hands and face: An early presentation of variegate porphyria.
Moshayedi, Aref; Mochel, Mark C; Brooks, Amy N; Laver, Joseph; Salkey, Kimberly S.
Afiliação
  • 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.
Pediatr Dermatol ; 40(2): 326-329, 2023 Mar.
Article em En | MEDLINE | ID: mdl-36178265
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.
Assuntos
Palavras-chave

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Porfirias / Porfirinas / Porfiria Variegada Limite: Adult / Child / Female / Humans Idioma: En Revista: Pediatr Dermatol Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Estados Unidos País de publicação: Estados Unidos

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Porfirias / Porfirinas / Porfiria Variegada Limite: Adult / Child / Female / Humans Idioma: En Revista: Pediatr Dermatol Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Estados Unidos País de publicação: Estados Unidos