Birt-Hogg-Dube syndrome
- Synonyms
- BHD syndrome; Birt Hogg Dubé syndrome
- Modes of inheritance
- Autosomal dominant inheritance (Orphanet)
Summary
Excerpted from the GeneReview:The clinical characteristics of Birt-Hogg-Dubé syndrome (BHDS) include cutaneous manifestations (fibrofolliculomas, acrochordons, angiofibromas, oral papules, cutaneous collagenomas, and epidermal cysts), pulmonary cysts/history of pneumothorax, and various types of renal tumors. Disease severity can vary significantly even within the same family. Skin lesions typically appear between the second and fourth decades of life and typically increase in size and number with age. Lung cysts are often bilateral and multifocal; most individuals are asymptomatic but at high risk for spontaneous pneumothorax. Individuals with BHDS are at a sevenfold increased risk for renal tumors that can be bilateral and multifocal; median age of renal tumor diagnosis is 48 years. The most common renal tumors are a hybrid of oncocytoma and chromophobe histologic cell types (oncocytic hybrid tumor) and chromophobe histologic cell types. Some families have renal tumor(s) and/or spontaneous pneumothorax without cutaneous manifestations.
- Full text of GeneReview (by section):
- Summary
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- References
- Chapter Notes
- Authors:
- Elke C Sattler
- Ortrud K Steinlein
- view full author information
Available tests
83 tests are in the database for this condition.
Check Related conditions for additional relevant tests.
- NCI PDQ, Renal cell carcinoma geneticsGenetics of Renal Cell Carcinoma (PDQ®): Health Professional Version
- NCI PDQ, Birt-Hogg-Dubé syndromePDQ® Cancer Genetics Editorial Board. PDQ Birt-Hogg-Dubé Syndrome. Bethesda, MD: National Cancer Institute. Updated <03/08/2021>. Accessed <05/05/2021>.
- NCI PDQ, Cancer Genetics CounselingCancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version
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