New Mutation in the Birt Hogg Dube Gene

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

doi:10.1016/j.ad.2010.03.007

New Mutation in the Birt Hogg Dube Gene

Actas Dermosifiliogr. 2010 Sep;101(7):637-640. doi: 10.1016/j.ad.2010.03.007. Epub 2010 Aug 4.

[Article in English, Spanish]

Authors

L Sempau¹, I Ruiz², A González-Morán³, X Susanna⁴, T V O Hansen⁵

Affiliations

¹ Servicio de Dermatología, Complejo Asistencial de León, León, España. Electronic address: leticiasempau@gmail.com.
² Servicio de Dermatología, Complejo Asistencial de León, León, España.
³ Servicio de Anatomía Patológica, Complejo Asistencial de León, León, España.
⁴ Director técnico de Balagué Center, Barcelona, España.
⁵ Department of Clinical Biochemistry, Rigshospitalet, Copenhague, Dinamarca.

PMID: 28709546
DOI: 10.1016/j.ad.2010.03.007

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: Acrochordon; Acrocordón; Birt-Hogg-Dube syndrome; Fibrofoliculoma; Fibrofolliculoma; Mutación; Mutation; Síndrome Birt Hogg Dubé.