New Mutation in the Birt Hogg Dube Gene

Patients with Birt-Hogg-Dube syndrome have an increased risk of developing hamartomas of the pilosebaceous unit, renal tumors of various types, lung cysts, and spontaneous pneumothorax. We present the case of a 54-year-old woman with a long history of whitish papules in the central region of the fac...

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Bibliographic Details
Published in:Actas dermo-sifiliográficas (English ed.) 2010-09, Vol.101 (7), p.637-640
Main Authors: Sempau, L., Ruiz, I., González-Morán, A., Susanna, X., Hansen, T.V.O.
Format: Article
Language:eng ; spa
Subjects:
Acrochordon
Acrocordón
Birt-Hogg-Dube syndrome
Birt-Hogg-Dube Syndrome - genetics
Female
Fibrofoliculoma
Fibrofolliculoma
Humans
Middle Aged
Mutación
Mutation
Pedigree
Síndrome Birt Hogg Dubé
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Summary:Patients with Birt-Hogg-Dube syndrome have an increased risk of developing hamartomas of the pilosebaceous unit, renal tumors of various types, lung cysts, and spontaneous pneumothorax. We present the case of a 54-year-old woman with a long history of whitish papules in the central region of the face and a family history of similar lesions. Biopsy and genetic study revealed a new mutation of the gene involved in Birt-Hogg-Dube syndrome. El Birt Hogg Dubé es un síndrome que predispone a la aparición de hamartomas del folículo pilosebáceo y a mayor riesgo de presentar tumores renales de diversa estirpe, quistes pulmonares y neumotórax espontáneos. Presentamos el caso de una mujer de 54 años que presenta desde hace años pápulas blanquecinas centrofaciales e historia familiar de esas mismas pápulas. Tras biopsia y estudio genético de la paciente se detecta una nueva mutación en el gen implicado en este síndrome.
ISSN:1578-2190
1578-2190
DOI:10.1016/S1578-2190(10)70686-7