Rare skin symptoms of BHD

Although fibrofolliculomas and trichodiscomas are the most common skin lesion BHD patients get, several other types of skin lesion have been reported. These lesions are either common in the general population, or there have only been one or two BHD patients reported to have these lesions, so it is not clear if they were caused by BHD or just coincidence.

Acrochordons

These are commonly known as skin tags, or soft fibromas. Several case studies have described BHD patients with acrochordons. However, acrochordons are very common in the general population and up to 3 in 5 people have them by the time they are 70, meaning that these cases could just be coincidence. It has been suggested that in BHD patients, acrochordons may be a variant of fibrofolliculomas (1)

They are called skin tags because these hang from a stalk of skin tissue. They may be found on the eyelids, neck, in the groin, near the armpits, chest or in areas where there are skin folds.

Acrochordons are benign and are normally the same colour as your skin, but they can also have a mottled appearance.

Angiofibroma

Angiofibromas are reddish, brown or flesh-coloured papules. They are made up of fibrous tissue and are usually found on the nose and cheeks. They are histologically similar to trichodiscomas.

Angiofibromas have been found in a few cases of BHD, but are much more common in patients with tuberous sclerosis complex, and Multiple Endocrine Neoplasia Type I (2-4).

Lipoma

Lipomas are fatty lumps under the skin. One BHD patient has been reported to have multiple lipomas and angiolipomas (lipomas that have blood vessels) (5).

Oral papules

Studies have reported small papules on the lips, gums, and the inside lining of cheeks and lips, in several BHD patients (6,7).

Perifollicular fibromas

Perifollicular fibromas may be a variant of fibrofolliculomas. They are the skin-coloured dome-shaped papules usually found on the face or neck. Clinically, their appearance is indistinguishable from fibrofolliculomas and some consider these as identical lesions (8).

Skin Cancer

There have been isolated reports of BHD patients with basal cell carcinomamalignant melanoma and squamous cell carcinoma (9–11). However, there is no current evidence that having BHD syndrome increases your risk of developing skin cancer.

References

1. Menko FH, van Steensel MA, Giraud S, Friis-Hansen L, Richard S, Ungari S, et al. Birt-Hogg-Dubé syndrome: diagnosis and management [Internet]. Vol. 10, The Lancet Oncology. Lancet Oncol; 2009 [cited 2021 May 11]. p. 1199–206. Available from: https://pubmed.ncbi.nlm.nih.gov/19959076/

2. Schaffer J V., Gohara MA, McNiff JM, Aasi SZ, Dvoretzky I. Multiple facial angiofibromas: A cutaneous manifestation of Birt-Hogg-Dubé syndrome. J Am Acad Dermatol [Internet]. 2005 [cited 2021 May 11];53(2 SUPPL.). Available from: https://pubmed.ncbi.nlm.nih.gov/16021156/

3. Roach ES, Gomez MR, Northrup H. Tuberous sclerosis complex consensus conference: Revised clinical diagnostic criteria. J Child Neurol [Internet]. 1998 [cited 2021 May 11];13(12):624–8. Available from: https://pubmed.ncbi.nlm.nih.gov/9881533/

4. Multiple facial angiofibromas and collagenomas in patients with multiple endocrine neoplasia type 1. [Internet]. [cited 2021 May 11]. Available from: https://reference.medscape.com/medline/abstract/9236523

5. Chung JY, Ramos-Caro FA, Beers B, Ford MJ, Flowers F. Multiple lipomas, angiolipomas, and parathyroid adenomas in a patient with Birt-Hogg-Dube syndrome. Int J Dermatol [Internet]. 1996 May 1 [cited 2021 May 11];35(5):365–6. Available from: https://onlinelibrary.wiley.com/doi/full/10.1111/j.1365-4362.1996.tb03642.x

6. Nadershahi NA, Wescott WB, Egbert B. Birt-Hogg-Dubé syndrome: A review and presentation of the first case with oral lesions. Oral Surg Oral Med Oral Pathol Oral Radiol Endod [Internet]. 1997 [cited 2021 May 18];83(4):496–500. Available from: https://pubmed.ncbi.nlm.nih.gov/9127384/

7. Toro JR, Glenn G, Duray P, Darling T, Weirich G, Zbar B, et al. Birt-Hogg-Dube syndrome. A novel marker of kidney neoplasia. Arch Dermatol [Internet]. 1999 Oct 1 [cited 2021 May 18];135(10):1195–202. Available from: https://jamanetwork.com/

8. Tong Y, Schneider JA, Coda AB, Hata TR, Cohen PR. Birt–Hogg–Dubé Syndrome: A Review of Dermatological Manifestations and Other Symptoms [Internet]. Vol. 19, American Journal of Clinical Dermatology. Springer International Publishing; 2018 [cited 2021 May 18]. p. 87–101. Available from: https://link.springer.com/article/10.1007/s40257-017-0307-8

9. Leter EM, Koopmans AK, Gille JJP, Van Os TAM, Vittoz GG, David EFL, et al. Birt-Hogg-Dubé syndrome: Clinical and genetic studies of 20 families. J Invest Dermatol [Internet]. 2008 [cited 2021 May 18];128(1):45–9. Available from: https://pubmed.ncbi.nlm.nih.gov/17611575/

10. Jaster A, Wachsmann J. Serendipitous discovery of peritoneal mesothelioma. Baylor Univ Med Cent Proc [Internet]. 2017 Dec 11 [cited 2021 May 18];29(2):185–7. Available from: /pmc/articles/PMC4790566/

11. Kasi PM, Dearmond DT. Birt-Hogg-Dubé syndrome: Answering questions raised by a case report published in 1962. Case Rep Oncol [Internet]. 2011 May [cited 2021 May 18];4(2):363–6. Available from: /pmc/articles/PMC3150960/

Publication date: December 2014
Review date: May 2021