Autor(es): Almeida, FT ; Santos, R P ; Carvalho, SD ; Brito, C
Data: 2018
Identificador Persistente: http://hdl.handle.net/10400.23/1265
Origem: Repositório Científico do Hospital de Braga
Assunto(s): Leiomiomatose; Síndromes Neoplásicas Hereditárias; Neoplasias da Pele; Neoplasias Uterinas
Multiple cutaneous and uterine leiomyomatosis (MCUL), also known as Reed's syndrome, is a rare genodermatosis, with an autosomal dominant pattern of inheritance. It results from a germline heterozygous mutation of fumarate hydratase gene, that is classified as a tumor suppressor gene. Hereditary leiomyomatosis and renal cell cancer is characterized by the association of MCUL with renal cell carcinoma. We report a case of a 57-year-old woman, with multiple cutaneous leiomyomas as the presenting sign of Reed's syndrome.
