Birt-Hogg-Dube syndrome
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Epidemiology
- rare
Pathology
- genodermatosis
- hair follicle hamartomas (fibrofolliculomas)
- kidney tumors
- oncocytoma, clear-cell RCC, papillary type 1 RCC
- medullary thyroid carcinoma
- multiple lipomas, angiolipomas, parathyroid adenomas
Genetics
- autosomal dominant
- associated with mutations in folliculin gene
Clinical manifestations
- triad skin lesions:
- trichodiscomas, fibrofolliculomas, acrochordons; fine white sclerotic facial papules
- onset is invariably in adulthood
- spontaneous pneumothorax
* images[4]
More general terms
Additional terms
References
- ↑ OMIM https://mirror.omim.org/entry/135150
- ↑ Medical Knowledge Self Assessment Program (MKSAP) 15, 17, 18. American College of Physicians, Philadelphia 2009, 2015, 2018.
- ↑ Buckley KK, Elston DM Medscape: Birt-Hogg-Dube Syndrome http://emedicine.medscape.com/article/1060579-overview
- ↑ 4.0 4.1 DermNet NZ. Birt-Hogg-Dube syndrome (images) http://www.dermnetnz.org/lesions/birt-hogg-dube.html