Spyridoula Katsarou, Bantavanos A, Papakonstantis M
Background: Birt–Hogg–Dubé (BHD) syndrome is a rare, genetic disorder, inherited by autosomal dominant disorder. It is caused by a germline mutation in the follicular gene (17p11.2). It is characterized by benign skin lesions, renal tumours, and pulmonary cysts. We report the case of a 52‐ year‐old man who presented at the dermatology department of 401 Military Hospital of Athens with multiple papules on face, scalp and neck. He reported a history of renal cancer and nephrectomy. Additional genomic sequencing confirmed a diagnosis of BHD syndrome.
Synonyms: Fibrofolliculomas with trichodiscomas and acrochordons, Hornstein-Knickenberg syndrome, Birt Hogg Dube syndrome
Objective: To present a case story and propose a surveillance strategy for patients and family members.
Case study: The probed was a 52-year-old Greek man who presented at the Dermatology department with multiple asymptomatic, soft skin‐coloured papules on his face, neck and trunk. Histopathologically, the papules revealed a fibrofolliculoma.
Results: Clinical exome panel sequencing analysis of peripheral blood of the probed detected the FLCN mutation, which was a nucleoside insert c1285dupC in exon 11.
Conclusion: Birt-Hogg-Dube Syndrome is a rare inherited syndrome. The disorder should be considered in patients with skin manifestations in coexistence with spontaneous pneumothorax or cystic lung disease and renal cancers. Early diagnosis is very important in order to subject patients to systematic screening for renal cancers. A surveillance protocol/strategy for these patients are proposed.