Birt-Hogg-Dubé Syndrome: Diagnostic Journey of Three Cases from Skin to Gene

Overview

Journal Ann Dermatol

Specialty Dermatology

Date 2022 Feb 28

PMID 35221599

Authors

Eda Hasal

Emel Bulbul Baskan

Seref Gul

Asli Gorek Dilektasli

Sebnem Ozemri Sag

Saduman Balaban Adim

Sehime Gulsun Temel

Affiliations

Soon will be listed here.

Abstract

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 (). 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 histopathology 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 parotid oncocytoma associated with BHDS in the light of the literature.

Citing Articles

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A Possible Association of Salivary Gland Tumors and Oral Lesions with Birt-Hogg-Dube Syndrome: A Systematic Review.

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Exons 1-3 deletion in FLCN is associated with increased risk of pneumothorax in Chinese patients with Birt-Hogg-Dubé syndrome.

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Oncocytic carcinoma of the parotid gland as a manifestation of Birt-Hogg-Dube syndrome.

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