Birt-Hogg-Dubé Syndrome: Diagnostic Journey of Three Cases from Skin to Gene
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Birt-Hogg-Dube syndrome (BHDS) is a rare disorder characterized by the triad of cutane- ous lesions, renal tumors, lung cysts and inactivation of the gene ( ). 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, 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, 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 histopathol- ogy compatible with trichodiscoma, spontaneous pneumothorax, 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 gene and the 11th known case of pa- rotid oncocytoma associated with BHDS in the light of the literature.
Abstract
Birt-Hogg-Dube syndrome (BHDS) is a rare disorder characterized by the triad of cutane- ous lesions, renal tumors, lung cysts and inactivation of the gene ( ). 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, 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, 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 histopathol- ogy compatible with trichodiscoma, spontaneous pneumothorax, 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 gene and the 11th known case of pa- rotid oncocytoma associated with BHDS in the light of the literature.
참고문헌 (20)
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