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Actas Dermosifiliogr. 2010 Sep;101(7):637-40.

[New mutation in the Birt Hogg Dube gene].

[Article in Spanish]

Author information

1
Servicio de Dermatología, Complejo Asistencial de León, León, España. leticiasempau@gmail.com

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.

PMID:
20858390
[Indexed for MEDLINE]

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