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D. Bessis, S. Giraud, S. Richard, A novel familial germline mutation in the initiator codon of the BHD gene in a patient with Birt–Hogg–Dubé syndrome, British Journal of Dermatology, Volume 155, Issue 5, 1 November 2006, Pages 1067–1069, https://doi.org/10.1111/j.1365-2133.2006.07449.x
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Conflicts of interest: None declared.
Birt–Hogg–Dubé syndrome (BHD) (OMIM 135150) is an inherited autosomal dominant genodermatosis that predisposes individuals to the development of fibrofolliculomas, trichodiscomas and acrochordons of the face, neck and upper trunk.1 There is also an increased risk for lung cysts, spontaneous pneumothorax and renal carcinomas in affected people, and some patients may also develop colorectal polyps and cancers.2–4 The disease is caused by germline mutations in the BHD (also known as FLCN) gene located in 17p11.2 encoding folliculin, a new protein with unknown function.5 We report a patient with apparently sporadic BHD in which molecular analysis subsequently revealed a novel germline mutation in the initiator codon of the BHD gene in the proband and her son.
Case and methods
A 43‐year‐old woman without notable medical history was referred to the Department of Dermatology (Montpellier, France) for evaluation of long‐standing and asymptomatic facial papules that she had had for the last 10 years. Physical examination revealed multiple, smooth skin‐coloured to whitish papules ranging from 0·5 to 5 mm in diameter, mainly distributed on the cheeks and nose in a butterfly fashion, sparing the nasolabial folds (Fig. 1a), with a few elements located over the forehead, the chin and the upper back. Numerous axillary pedunculated lesions typical of acrochordons, 2–3 mm in size, were also present. Skin biopsy of a facial papule confirmed the diagnosis of typical fibrofolliculoma with proliferation of cords of epithelial cells emanating from the hair follicle. Chest and abdominal computed tomographic scan demonstrated no renal tumour or lung cyst, and colonoscopy was normal. The family history was unremarkable, with the notable exception of a spontaneous pneumothorax in the proband's son at age 7 years (Fig. 1b).
