Sources

What is BHD?

Nickerson et al., 2002. Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dubé syndrome. Cancer cell, 2 (2), 157-64 [PMID: 12204536] [BHD Article Library]

What are the symptoms of BHD?

Menko et al., 2009. Birt-Hogg-Dubé syndrome: diagnosis and management. Lancet Oncol, 10 (12), 1199-206 [PMID: 19959076] [BHD Article Library]

Hornstein, 1976. Generalized dermal perifollicular fibromas with polyps of the colon. Hum Genet, 33 (2), 193-7 [PMID: 939573]

Birt et al., 1977. Hereditary multiple fibrofolliculomas with trichodiscomas and acrochordons. Arch Dermatol, 113 (12), 1674-7 [PMID: 596896]

Khoo et al., 2002. Clinical and genetic studies of Birt-Hogg-Dubé syndrome. J Med Genet, 39 (12), 906-12 [PMID: 12471204] [BHD Article Library]

Nahorski et al., 2010. Investigation of the Birt-Hogg-Dube tumour suppressor gene (FLCN) in familial and sporadic colorectal cancer. J Med Genet, 47 (6), 385-90 [PMID: 20522427]

Liu et al., 2000. Parotid oncocytoma in the Birt-Hogg-Dubé syndrome. J Am Acad Dermatol, 43 (6), 1120-2 [PMID: 11100034]

Schmidt et al., 2005. Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dubé syndrome. Am J Hum Genet, 76 (6), 1023-33 [PMID: 15852235] [BHD Article Library]

Palmirotta et al., 2008. Birt-Hogg-Dubé (BHD) syndrome: report of two novel germline mutations in the folliculin (FLCN) gene. Eur J Dermatol, 18 (4), 382-6 [PMID: 18573707] [BHD Article Library]

Maffé et al., 2011. Constitutional FLCN mutations in patients with suspected Birt-Hogg-Dubé syndrome ascertained for non-cutaneous manifestations. Clin Genet, 79 (4), 345-54 [PMID: 20618353]

Lindor et al., 2012. Birt-Hogg-Dube syndrome presenting as multiple oncocytic parotid tumors. Hered Cancer Clin Pract, 10 (1), 13 [PMID: 23050938] [BHD Article Library]

Pradella et al., 2013. Where Birt-Hogg-Dubé meets Cowden Syndrome: mirrored genetic defects in two cases of syndromic oncocytic tumours. Eur J Hum Genet, 21 (10), 1169-72 [PMID: 23386036]

Kluger et al., 2010. Birt-Hogg-Dubé syndrome: clinical and genetic studies of 10 French families. Br J Dermatol, 162 (3), 527-37 [PMID: 19785621]

Benhammou et al., 2011. Identification of intragenic deletions and duplication in the FLCN gene in Birt-Hogg-Dubé syndrome. Genes Chromosomes Cancer, 50 (6), 466-77 [PMID: 21412933] [BHD Article Library]

How many people get each symptom?

Toro et al., 2008. BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dubé syndrome: a new series of 50 families and a review of published reports. J Med Genet, 45 (6), 321-31 [PMID: 18234728] [BHD Article Library]

Toro et al., 2007. Lung cysts, spontaneous pneumothorax, and genetic associations in 89 families with Birt-Hogg-Dubé syndrome. Am J Respir Crit Care Med, 175 (10), 1044-53 [PMID: 17322109] [BHD Article Library]

Houweling et al., 2011. Renal cancer and pneumothorax risk in Birt-Hogg-Dubé syndrome; an analysis of 115 FLCN mutation carriers from 35 BHD families. Br J Cancer, 105 (12), 1912-9 [PMID: 22146830] [BHD Article Library]

Pavlovich et al., 2005. Evaluation and management of renal tumors in the Birt-Hogg-Dubé syndrome. J Urol, 173 (5), 1482-6 [PMID: 15821464]

Toro et al., 2008. BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dubé syndrome: a new series of 50 families and a review of published reports. J Med Genet, 45 (6), 321-31 [PMID: 18234728] [BHD Article Library]

Benusiglio et al., 20014. Renal cell tumour characteristics in patients with the Birt-Hogg-Dubé cancer susceptibility syndrome: a retrospective, multicentre study. Orphanet Journal of Rare Diseases, 9 (1) [DOI: 10.1186/s13023-014-0163-z] [BHD Article Library]

At what age do the symptoms of BHD develop?

Toro et al., 2008. BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dubé syndrome: a new series of 50 families and a review of published reports. J Med Genet, 45 (6), 321-31 [PMID: 18234728] [BHD Article Library]

Toro et al., 2007. Lung cysts, spontaneous pneumothorax, and genetic associations in 89 families with Birt-Hogg-Dubé syndrome. Am J Respir Crit Care Med, 175 (10), 1044-53 [PMID: 17322109] [BHD Article Library]

Houweling et al., 2011. Renal cancer and pneumothorax risk in Birt-Hogg-Dubé syndrome; an analysis of 115 FLCN mutation carriers from 35 BHD families. Br J Cancer, 105 (12), 1912-9 [PMID: 22146830] [BHD Article Library]

Pavlovich et al., 2005. Evaluation and management of renal tumors in the Birt-Hogg-Dubé syndrome. J Urol, 173 (5), 1482-6 [PMID: 15821464]

Toro et al., 2008. BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dubé syndrome: a new series of 50 families and a review of published reports. J Med Genet, 45 (6), 321-31 [PMID: 18234728] [BHD Article Library]

Benusiglio et al., 20014. Renal cell tumour characteristics in patients with the Birt-Hogg-Dubé cancer susceptibility syndrome: a retrospective, multicentre study. Orphanet Journal of Rare Diseases, 9 (1) [DOI: 10.1186/s13023-014-0163-z] [BHD Article Library]

Johannesma et al., 2014. Spontaneous pneumothorax as indicator for Birt-Hogg-Dubé syndrome in paediatric patients. BMC pediatrics, 14 [PMID: 24994497] [BHD Article Library]

How do I know if I have BHD?

Menko et al., 2009. Birt-Hogg-Dubé syndrome: diagnosis and management. Lancet Oncol, 10 (12), 1199-206 [PMID: 19959076] [BHD Article Library]

Do my children have BHD?

Menko et al., 2009. Birt-Hogg-Dubé syndrome: diagnosis and management. Lancet Oncol, 10 (12), 1199-206 [PMID: 19959076] [BHD Article Library]

Johannesma et al., 2014. Spontaneous pneumothorax as indicator for Birt-Hogg-Dubé syndrome in paediatric patients. BMC pediatrics, 14 [PMID: 24994497] [BHD Article Library]

How can I have BHD if no one else in my family has BHD?

Menko et al., 2013. A de novo FLCN mutation in a patient with spontaneous pneumothorax and renal cancer; a clinical and molecular evaluation. Fam Cancer, 12 (3), 373-9 [PMID: 23264078]

Birt et al., 1977. Hereditary multiple fibrofolliculomas with trichodiscomas and acrochordons. Arch Dermatol, 113 (12), 1674-7 [PMID: 596896]

What are the treatments for BHD?

Menko et al., 2009. Birt-Hogg-Dubé syndrome: diagnosis and management. Lancet Oncol, 10 (12), 1199-206 [PMID: 19959076] [BHD Article Library]

Farrant & Emerson, 2007. Letter: hyfrecation and curettage as a treatment for fibrofolliculomas in Birt-Hogg-Dube syndrome. Dermatologic surgery, 33 (10), 1287-8 [PMID: 17903168]

Pritchard et al., 2014. Successful treatment of facial papules with electrodessication in a patient with birt-hogg-dubé syndrome. Dermatology online journal, 20 (7) [PMID: 25046466] [BHD Article Library]

Kahle et al., 2001. Multiple mantleomas in Birt-Hogg-Dubé syndrome: successful therapy with CO2 laser. Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete, 52 (1), 43-6 [PMID: 11220238] (Article in German)

Truchuelo et al., 2011. Multiple Facial Papules of Birt-Hogg-Dubé Syndrome Treated with a CO(2) Laser. Annals of dermatology, 23 (Suppl 2) [PMID: 22148071]

Gambichler et al., 2000.  Treatment of Birt-Hogg-Dubé syndrome with erbium:YAG laser. Journal of the American Academy of Dermatology, 43 (5 Pt 1), 856-8 [PMID: 11050594]

Jacob & Dover, 2001. Birt-Hogg-Dube syndrome: treatment of cutaneous manifestations with laser skin resurfacing. Archives of dermatology, 137 (1), 98-9 [PMID: 11176677]

Gupta et al., 2013. Pulmonary manifestations of Birt-Hogg-Dubé syndrome. Familial cancer, 12 (3), 387-96 [PMID: 23715758]

Postmus et al., 2014. In-Flight Pneumothorax: Diagnosis may be missed because of symptom delay. American journal of respiratory and critical care medicine, 190 (6), 704-5 [PMID: 25221882]

Stamatakis et al., 2013. Diagnosis and management of BHD-associated kidney cancer. Familial cancer, 12 (3), 397-402 [PMID: 23703644]

Links:

Lung surgery (NHS leaflet): www.nuh.nhs.uk/handlers/downloads.ashx?id=17423

Can I fly or go scuba diving if I have BHD?

Gupta et al., 2013. Pulmonary manifestations of Birt-Hogg-Dubé syndrome. Familial cancer, 12 (3), 387-96 [PMID: 23715758]

Postmus et al., 2014. In-Flight Pneumothorax: Diagnosis may be missed because of symptom delay. American journal of respiratory and critical care medicine, 190 (6), 704-5 [PMID: 25221882]

How life-threatening is BHD?

Gupta et al., 2013. Pulmonary manifestations of Birt-Hogg-Dubé syndrome. Familial cancer, 12 (3), 387-96 [PMID: 23715758]

Menko et al., 2009. Birt-Hogg-Dubé syndrome: diagnosis and management. Lancet Oncol, 10 (12), 1199-206 [PMID: 19959076] [BHD Article Library]

Stamatakis et al., 2013. Diagnosis and management of BHD-associated kidney cancer. Familial cancer, 12 (3), 397-402 [PMID: 23703644]

 
Publication date: December 2014
Review date: December 2017