Birt-Hogg-Dubé syndrome
A 45-year-old woman with a prior history of: 1) total right nephrectomy due\nto clear cell carcinoma (T1, N0, M0) at 41 years of age; 2) multinodular\ngoiter; 3) fibrocystic mammary disease; was referred to our department for\nevaluation of long-standing multiple facial, cervical and upper thoracic small,\nflesh-colored papules (). Scarce\nimprovement was noted in the past with topical aluminum oxide or alpha-hydroxy-acids\ntreatment.\nThe patient denied any respiratory signs or symptoms and mentioned a family history of\nsimilar dermatological findings (father, brother and paternal aunts). Her father died of\ncolon cancer and her brother had a history of repeated episodes of spontaneous\npneumothoraxes.\nComputerized tomography scan (CT-scan) of the chest, abdomen and pelvis revealed\nmultiple small-sized cysts in both lungs. Thyroid ultrasonography and scintigraphy were\nperformed and cytology of otherwise suspicious nodules did not reveal any cancer\nfindings. Colonoscopy was normal.\nSkin biopsies of the face, neck and abdomen revealed findings consistent with\nangiofibroma, cellular fibroma and fibroma (acrochordon). Only one biopsy of a lesion of\nthe face showed a discrete dermal proliferation of basaloid epithelial nests around a\nnormal hair follicle, with surrounding fibrosis, consistent with perifollicular fibroma\n().\nDespite the absence of FF or TD identification, a clinical diagnosis of BHDS was made,\ncorroborated by the identification of a previously undescribed, frameshift\nc.573delGAinsT (p.G191fsX31) mutation in heterozygosity on exon 6 of the FLCN\ngene ().\nCarbon-dioxide laser ablation produced unsatisfactory results in the patient's opinion,\nwho declined further treatment. The patient and her immediate family are annually\nscreened for the development of renal neoplasia. The patient's brother refused medical\ncare.