Birt-Hogg-Dubé Syndrome: Diagnostic Journey of Three Cases from Skin to Gene
| Autor: | Eda Hasal, Emel Bulbul Baskan, Seref Gul, Asli Gorek Dilektasli, Sebnem Ozemri Sag, Saduman Balaban Adim, Sehime Gulsun Temel |
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| Přispěvatelé: | Gül, Şeref, Hasal, Eda, Başkan, Emel Bülbül, Dilektaşlı, Aslı Görek, Sağ, Şebnem Özemri, Adird, Saduman Balaban, Temel, Şehime Gülsün, College of Engineering, Department of Chemical and Biological Engineering |
| Rok vydání: | 2022 |
| Předmět: | |
| Zdroj: | Annals Of Dermatology |
| ISSN: | 2005-3894 1013-9087 |
| DOI: | 10.5021/ad.2022.34.1.66 |
| Popis: | Birt-Hogg-Dube syndrome (BHDS) is a rare disorder characterized by the triad of cutaneous lesions, renal tumors, lung cysts and inactivation of the gene folliculin (FLCN). Here, we present three female patients diagnosed with BHDS. First case a 55-year-old female had flesh moles histopathology compatible with angiofibroma, multiple cysts in the lung and kidneys, FLCN gene mutations ('c.1285dupC [p.His429Profs*]' 11th exon and 'c.653G>A [p.Arg258His]' 7th exon). The second case a 76-year-old female had trichodiscoma on her skin, multiple cysts in the lung, spontaneous pneumothorax, FLCN gene mutation 'c.1285dupC (p.His429Profs*27) 11th exon' and, her son had renal carcinoma history under 50 years of age. Our third case, also the daughter of case 2, had dermal papules histopathology compatible with trichodiscoma, spontaneous pneumothorax, FLCN gene mutation 'c.1285dupC (p.His429Profs*27) 11th exon' and, parotid oncocytoma. Through our cases, we document the first case of two mutations ('c.1285dupC [p.His429Profs*]' 11th exon and 'c.653G>A [p.Arg258His]' 7th exon) in the same FLCN gene and the 11th known case of parotid oncocytoma associated with BHDS in the light of the literature. NA |
| Databáze: | OpenAIRE |
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