HEREDITHARY HEMOCROMATOSIS TYPE 1 PRESENTED AS PORPHYRIA CUTANEA TARDA – CASE REPORT OF A COMPOUND HETEROZYGOTE PATIENT FOR THE MUTATIONS C282Y AND H63D

• Autor(a) principal: Mestre, Tiago
• Data de Publicação: 2015
• Outros Autores: Rodrigues, Ana Maria, Cardoso, Jorge
• Tipo de documento: Artigo
• Idioma: por
• Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
• Texto Completo: https://doi.org/10.29021/spdv.73.3.462
• topic: Hemochromatosis; Porphyria cutanea tarda; Iron metabolism disorders; Iron overload; Alterações do metabolismo do ferro; Hemocromatose; Porfiria cutânea tarda; Sobrecarga de ferro

Porphyria cutanea tarda (PCT) is a disorder of porphyrin metabolism with associated skin photosensitivity, which presents with vesicolobullous lesions, atrophic scars and frequently signs of liver damage. Herditary hemochromathosis (HH) is the most frequent autosomic recessive genetic disease.We present the case of a previous healthy 38 years old patient that came to our office with blisters in face, extensor surfaces of arms and on the dorsum of his hands associated with hypertrichosis in zygomatic area and milia on the dorsum of the hands. Laboratory tests showed serum and urinary porphyrins level, serum iron level and ferritin exceeding the normal range. A diagnosis of porphyria cutanea tarda was reached based on clinical presentation, histopathological examination and laboratory results. Genetic studies on Hereditary Hemochromathosis mutations showed a compound heterozygote patient for the most common mutations: C282Y, H63D. Porphyria cutanea tarda can be an important cutaneous marker for patients with mutations of the HH gene. Skin signs can have a key role in early diagnosis, avoiding future complications, and requesting genetic counseling and genetic testing for the children of the affected patients.