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Synonym: fibrofolliculomas with trichodiscomas and acrochordons
Birt-Hogg-Dubé syndrome is named after the three authors of a paper that described family members with papular skin lesions on their face, forehead, scalp and neck.
When these lesions were examined, the following were found:
- Fibrofolliculomas (benign tumours of the hair follicle).
- Trichodiscomas (hamartomatous tumours of the hair disc).
- Acrochordons ('wart with a thin neck' skin tags).
This triad of features became known as Birt-Hogg-Dubé syndrome. It is now thought that these may all just be part of the spectrum of fibrofolliculomas.
- Birt-Hogg-Dubé syndrome is a rare inherited genodermatosis.
- The condition is caused by mutation in the gene encoding folliculin which may have a role as a tumour suppressor gene.
- The mutation is at gene map locus 17p11.2.
- An autosomal dominant inheritance pattern has been identified.
- The actual incidence is unknown, but it is likely to be underdiagnosed.
- Onset tends to be in adulthood with skin lesions:
- These develop in the 20s or 30s and remain throughout life.
- They are typically small, dome-shaped, papular skin lesions, about 2 mm to 4 mm in diameter, that develop over the scalp, face, neck and upper trunk. They may also be seen in the mouth.
- They cause no symptoms and the reason for presentation is usually cosmetic.
- Acrochordons are warty-like skin tags that may be found on the eyelids, neck, axilla and upper half of the trunk.
- Presentation may also be with renal carcinoma, spontaneous pneumothorax or other possible associated condition - see below.
There are a number of conditions associated with Birt-Hogg-Dubé syndrome including:
- Renal carcinomas (may be multifocal or bilateral; most commonly chromophobe renal carcinoma and oncocytic hybrid tumours).
- Pulmonary cysts.
- Spontaneous pneumothorax.
These are thought to result from a mutation in the FLCN gene. The conditions below are other possible associations.
- Connective tissue naevi.
- Parathyroid adenomas.
- Flecked chorioretinopathy.
- Bullous emphysema.
- Lipomas and angiolipomas.
- Parotid oncocytomas.
- Multiple oral mucosal papules.
- Neural tissue tumours.
- Multiple facial angiofibromas.
- Colonic polyps and colonic adenocarcinoma.
- Medullary thyroid carcinoma.
- Skin biopsy will confirm the nature of the lesions.
- Molecular genetic testing is available.
- CXR (may show pulmonary cysts, bullous emphysema or pneumothorax).
- Renal ultrasound and CT scan of the abdomen/pelvis should be performed to screen for renal tumours. Relatives should also be screened for renal cancer.
- Consider colonoscopy because of the possible association with colonic polyps/carcinoma, although this is debated.[8, 9]
- There is no specific therapy.
- Skin lesions may be treated by surgical removal. Dermabrasion, electrodesiccation and laser treatment have been used but the lesions may recur.
- There should be long-term follow-up for malignant change, especially renal carcinoma and possibly colonic carcinoma.
- Monitoring and screening for associated chest conditions should be carried out.
- Associated conditions should be managed appropriately.
- Genetic counselling should be offered.
- This depends on the development of associated conditions, especially renal carcinoma.
- The tendency for associated malignancy seems variable between families.
- Specific mutations in the folliculin gene may predispose to cancer development in Birt-Hogg-Dubé syndrome.
- Malignancy is not an invariable part of the disease.
Further reading and references
Birt-Hogg-Dubé syndrome; DermNet NZ
Kluger N, Giraud S, Coupier I, et al; Birt-Hogg-Dube syndrome: clinical and genetic studies of 10 French families. Br J Dermatol. 2010 Mar162(3):527-37. Epub 2009 Sep 26.
Birt AR, Hogg GR, Dubé WJ; Hereditary multiple fibrofolliculomas with trichodiscomas and acrochordons. Arch Dermatol. 1977 Dec113(12):1674-7.
Buckley KK et al; Birt-Hogg-Dube Syndrome, Medscape, May 2009
Toro JR, Wei MH, Glenn GM, et al; BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dube J Med Genet. 2008 Jun45(6):321-31. Epub 2008 Jan 30.
Kim EH, Jeong SY, Kim HJ, et al; A case of Birt-Hogg-Dubé syndrome. J Korean Med Sci. 2008 Apr23(2):332-5.
Schmidt LS; Birt-Hogg-Dubé syndrome, a genodermatosis that increases risk for renal carcinoma. Curr Mol Med. 2004 Dec4(8):877-85.
Adley BP, Smith ND, Nayar R, et al; Birt-Hogg-Dubé syndrome: clinicopathologic findings and genetic alterations. Arch Pathol Lab Med. 2006 Dec130(12):1865-70.
Zbar B, Alvord WG, Glenn G, et al; Risk of renal and colonic neoplasms and spontaneous pneumothorax in the Birt-Hogg-Dubé syndrome. Cancer Epidemiol Biomarkers Prev. 2002 Apr11(4):393-400.
Le Guyadec T, Dufau JP, Poulain JF, et al; Multiple trichodiscomas associated with colonic polyposis. Ann Dermatol Venereol. 1998 Oct125(10):717-9.
Palmirotta R, Donati P, Savonarola A, et al; Birt-Hogg-Dubé (BHD) syndrome: report of two novel germline mutations in the folliculin (FLCN) gene. Eur J Dermatol. 2008 Jul-Aug18(4):382-6. Epub 2008 Jun 23.
Toro JR; Birt-Hogg-Dubé Syndrome, Gene Reviews, September 2008
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