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Birt-Hogg-Dube syndrome

Epidemiology: - rare Pathology: 1) genodermatosis 2) hair follicle hamartomas (fibrofolliculomas) 3) kidney tumors - oncocytoma, clear-cell RCC, papillary type 1 RCC 4) medullary thyroid carcinoma 5) multiple lipomas, angiolipomas, parathyroid adenomas Genetics: 1) autosomal dominant 2) associated with mutations in folliculin gene Clinical manifestations: 1) triad skin lesions: a) trichodiscomas, fibrofolliculomas, acrochordons; fine white sclerotic facial papules b) onset is invariably in adulthood 2) spontaneous pneumothorax * images [4]

Related

folliculin; Birt-Hogg-Dube syndrome protein; BHD skin lesion fibrofolliculoma protein (FLCN, BHD)

General

genetic syndrome (multisystem disorder) genetic disease of the skin (genodermatosis)

Database Correlations

OMIM 135150

References

  1. OMIM :accession 135150
  2. Medical Knowledge Self Assessment Program (MKSAP) 15, 17, 18. American College of Physicians, Philadelphia 2009, 2015, 2018.
  3. Buckley KK, Elston DM Medscape: Birt-Hogg-Dube Syndrome http://emedicine.medscape.com/article/1060579-overview
  4. DermNet NZ. Birt-Hogg-Dube syndrome (images) http://www.dermnetnz.org/lesions/birt-hogg-dube.html