Utilize este identificador para referenciar este registo: http://hdl.handle.net/10400.17/1629
Título: Birt-Hogg-Dubé Syndrome
Outros títulos: Síndrome de Birt-Hogg-Dubé
Autor: Lencastre, A
Ponte, P
Apetato, M
Nunes, L
Lestre, S
Palavras-chave: Síndrome de Birt-Hogg-Dubé
Mutação da Fase de Leitura
Folículo Piloso
HDE GEN
HSAC DER
Data: 2013
Editora: Sociedade Brasileira de Dermatologia
Citação: An Bras Dermatol. 2013;88(6 Suppl 1):203-5
Resumo: A 45-year-old woman with a history of renal carcinoma was observed for facial, cervical and truncal flesh-colored papules. Relatives had similar skin findings and a brother had repeated episodes of pneumothorax. The computerized tomography scan revealed multiple cysts on both lungs. A skin biopsy revealed a perifollicular fibroma. The clinical diagnosis of Birt-Hogg-Dubé syndrome (BHDS) was corroborated by identification of a novel frameshift c.573delGAinsT (p.G191fsX31) mutation in heterozygosity on exon 6 of the folliculin gene. The presence of multiple and typical benign hair follicle tumors highlights the role of the dermatologist in the diagnosis of this rare genodermatosis that is associated with an increased risk of renal cell cancer and pulmonary cysts, warranting personal and familial follow-up and counseling.
Peer review: Yes
URI: http://hdl.handle.net/10400.17/1629
Aparece nas colecções:DER - Artigos
GEN - Artigos

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