Birt-Hogg-Dubé Syndrome

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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.[1]

When these lesions were examined, the following were found:[2]

  • 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.[3]

  • Birt-Hogg-Dubé syndrome is a rare inherited genodermatosis.[2]
  • 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.[4]
  • The actual incidence is unknown, but it is likely to be underdiagnosed.[5]

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  • Onset tends to be in adulthood with skin lesions:[2]
    • 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.[3]
  • 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:[3]

  • Renal carcinomas (may be multifocal or bilateral; most commonly chromophobe renal carcinoma and oncocytic hybrid tumours).[6]
  • Pulmonary cysts.
  • Spontaneous pneumothorax.

These are thought to result from a mutation in the FLCN gene. The conditions below are other possible associations.

Birt-Hogg-Dubé syndrome should be looked for in any patient with multiple bilateral kidney tumours, especially if the predominant histological type is chromophobe renal cell carcinoma or hybrid oncocytic tumour.[7]
  • 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.[3]
  • 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.[10]
  • Malignancy is not an invariable part of the disease.
  • Encourage patients to stop smoking because of the additive risk factor for lung disease and renal carcinoma.
  • Avoidance of high ambient pressures may reduce the risk of spontaneous pneumothorax.[11]

Further reading & references

  1. Birt AR, Hogg GR, Dubé WJ; Hereditary multiple fibrofolliculomas with trichodiscomas and acrochordons. Arch Dermatol. 1977 Dec;113(12):1674-7.
  2. Birt-Hogg-Dube Syndrome, Online Mendelian Inheritance in Man (OMIM)
  3. Buckley KK et al; Birt-Hogg-Dube Syndrome, Medscape, May 2009
  4. Toro JR, Wei MH, Glenn GM, et al; BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dube J Med Genet. 2008 Jun;45(6):321-31. Epub 2008 Jan 30.
  5. Kim EH, Jeong SY, Kim HJ, et al; A case of Birt-Hogg-Dubé syndrome. J Korean Med Sci. 2008 Apr;23(2):332-5.
  6. Schmidt LS; Birt-Hogg-Dubé syndrome, a genodermatosis that increases risk for renal carcinoma. Curr Mol Med. 2004 Dec;4(8):877-85.
  7. Adley BP, Smith ND, Nayar R, et al; Birt-Hogg-Dubé syndrome: clinicopathologic findings and genetic alterations. Arch Pathol Lab Med. 2006 Dec;130(12):1865-70.
  8. 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 Apr;11(4):393-400.
  9. Le Guyadec T, Dufau JP, Poulain JF, et al; Multiple trichodiscomas associated with colonic polyposis. Ann Dermatol Venereol. 1998 Oct;125(10):717-9.
  10. 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-Aug;18(4):382-6. Epub 2008 Jun 23.
  11. Toro JR; Birt-Hogg-Dubé Syndrome, Gene Reviews, September 2008

Disclaimer: This article is for information only and should not be used for the diagnosis or treatment of medical conditions. EMIS has used all reasonable care in compiling the information but make no warranty as to its accuracy. Consult a doctor or other health care professional for diagnosis and treatment of medical conditions. For details see our conditions.

Original Author:
Dr Huw Thomas, Dr Michelle Wright
Current Version:
Document ID:
1865 (v25)
Last Checked:
03/06/2011
Next Review:
01/06/2016

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