Birt-Hogg-Dube Syndrome

Birt-Hogg-Dubé (BHD) syndrome is a rare inherited genodermatosis characterized by small, firm, dome-shaped papules (fibrofolliculomas) distributed over the forehead, face, neck and upper trunk. Other associated skin lesions include trichodiscomas and acrocordons. Frequently observed nondermatologic findings include spontaneous pneumothorax (30-50 fold increased risk over the general population), lung cysts, and renal neoplasia (7-9 fold increase risk). Some less common clinical features include parotid oncocytoma, multiple lipomas and angiolipomas, intestinal polyposis, neural tissue tumors, parathyroid adenomas, and large connective tissue nevi. Rarely, characteristic lesions have been found in the oral mucosa. The average age at presentation is 25-years

Tests Available

Forms and Documents

Test Details

FLCN
  • An individual with a personal and family history of tumors or other clinical features associated with Birt-Hogg-Dubé syndrome (BHD), such as oncocytic, chromophobe, or oncocytic hybrid renal tumors; benign skin papules (fibrofolliculomas, trichodiscomas/angiofibromas, perifollicular fibromas, acrocordons); multiple bilateral lung cysts; spontaneous pneumothorax.
  • An individual with multiple skin papules with at least one biopsy-proven fibrofolliculoma
  • An individual with bilateral or multi-focal oncocytic, chromophobe, or oncocytic hybrid renal tumors
  • An individual with a personal and family history of unexplained isolated primary spontaneous pneumothorax (PSP)
  • An unaffected individual with a family history suggestive of BHD (see above) when an affected individual is unavailable for his or her own genetic testing
  • Capillary Sequencing
  • Deletion/Duplication Analysis

Ordering

714
3 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swab | Fibroblasts (separate charge for cell culture may apply) | Oral Rinse

Billing

No
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Schmidt, L. et al., (2005) Am J Hum Genet. 76: 39-44.
  2. Painter, J. et al., (2005) Am J Hum Genet. 76: 522-27
  3. Graham, R. et al., (2005) Am J Respir Crit Care Med. 172: 39-44.
  4. Kunogi, M. et al., (2010) J Med Genet 47:281-287.
  5. Benhammou et al., (2011) Genes Chromosomes Cancer 50:466-477.