New Mutation in the Birt Hogg Dube Gene

Sempau, L.; Ruiz, I.; González-Morán, A.; Susanna, X.; Hansen, T.V.O.

doi:10.1016/S1578-2190(10)70686-7

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Abstract

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.

Keywords:

Fibrofolliculoma

Acrochordon

Birt-Hogg-Dube syndrome

Mutation

Resumen

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.

Palabras clave:

Fibrofoliculoma

Acrocordón

Síndrome Birt Hogg Dubé

Mutación

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