Birt–Hogg–Dubé syndrome
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Birt–Hogg–Dubé syndrome, also Hornstein-Birt-Hogg-Dubé syndrome,[1] is constellation of findings due to a FLCN (folliculin) gene mutation.[2] It is abbreviated BHD syndrome.
Features
BHD syndrome is characterized by:[3]
- Skin lesions:
- Fibrofolliculoma.
- Trichodiscoma.
- Acrochordon.
- Renal tumours:
- Chromophobe renal cell carcinoma - most common.
- Renal oncocytoma.
- Variable penetrance (autosomal dominant).
See also
References
- ↑ Happle, R. (Jun 2012). "Hornstein-Birt-Hogg-Dubé syndrome: a renaming and reconsideration.". Am J Med Genet A 158A (6): 1247-51. doi:10.1002/ajmg.a.35330. PMID 22581760.
- ↑ Online 'Mendelian Inheritance in Man' (OMIM) 135150
- ↑ Humphrey, Peter A; Dehner, Louis P; Pfeifer, John D (2008). The Washington Manual of Surgical Pathology (1st ed.). Lippincott Williams & Wilkins. pp. 290. ISBN 978-0781765275.