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Birt-Hogg-Dubé Syndrome

Abstract

You are reading a NORD Rare Disease Report Abstract. NORD’s full collection of reports on over 1200 rare diseases is available to subscribers (click here for details). We are now also offering two full rare disease reports per day to visitors on our Web site.

NORD is very grateful to Laura S. Schmidt, PhD, Principal Scientist, BRP, SAIC-Frederick, Inc., Urologic Oncology Branch, National Cancer Institute, for assistance in the preparation of this report.

Synonyms of Birt-Hogg-Dubé Syndrome

  • BHD syndrome
  • Hornstein-Knickenberg syndrome

Disorder Subdivisions

  • No subdivisions found.

General Discussion

Birt-Hogg-Dubé (BHD) syndrome is a rare complex genetic skin disorder (genodermatosis) characterized by the development of skin papules generally located on the head, face and upper torso. These benign tumors (hamartomas) of the hair follicle are called fibrofolliculomas. BHD syndrome also predisposes individuals to the development of benign cysts in the lungs, repeated episodes of a collapsed lung (pneumothorax), and increased risk for developing renal neoplasia. BHD syndrome is caused by mutations in the FLCN (alias BHD) gene and is inherited as an autosomal dominant trait.

Organizations related to Birt-Hogg-Dubé Syndrome

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