Approximately 90% of people with BHD develop skin lesions, although it was found to be as low as 30% in the Asian population (1) and of these, fibrofolliculomas are the most common type. They are benign tumours of the hair follicle and appear as pale skin bumps on the face, neck, ears and upper body.
People with BHD can have anywhere from a few to hundreds of these skin lesions. They usually start to appear in a person’s 20s and 30s.
Fibrofolliculomas and trichodiscomas are often raised or dome shaped and can vary in size, but are generally around 2-4 mm in diameter (2). They may look like pimples, but do not go away with time, and you should not be able to “pop” them like a whitehead pimple. Some clinicians think that fibrofolliculomas and trichodiscomas are simply different versions of the same type of skin lesion.
People can also develop acrochordons (skin tags), although these also occur in the general population whereas fibrofolliculomas and trichodiscomas are specific to BHD.
The diagnosis of BHD-associated skin lesions is based on both clinical presentation and histological examination and involves taking a biopsy and examining the skin cells under a microscope (3).
Although treatment options for fibrofolliculomas are often successful in removing the lesions, relapses often occur, and as of yet there is no permanent treatment available. Continuous care may be needed, and consideration should be taken as to how a person may be emotionally affected by their fibrofollicuomas.
For treatment options currently available, see the treatment section for more details.
1. Murakami Y, Wataya-Kaneda M, Tanaka M, Takahashi A, Tsujimura A, Inoue K, et al. Two Japanese cases of birt-hogg-dubé syndrome with pulmonary cysts, fibrofolliculomas, and renal cell carcinomas. Case Rep Dermatol [Internet]. 2014 [cited 2021 May 11];6(1):20–8. Available from: /pmc/articles/PMC3985789/
2. Schmidt LS, Linehan WM. Molecular genetics and clinical features of Birt-Hogg-Dubé syndrome [Internet]. Vol. 12, Nature Reviews Urology. Nature Publishing Group; 2015 [cited 2021 May 10]. p. 558–69. Available from: https://www.nature.com/articles/nrurol.2015.206
3. 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/
Publication date: December 2014
Review date: May 2021