Department of Biochemistry, Medical School Heraklion, University of Crete, Greece
Case Report
Birt-Hogg-Dube Syndrome: A Case Report of Family Inheritance in Greece and Suggested Follow-up Guidelines
Author(s): Spyridoula Katsarou*, Bantavanos A and 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 m.. View More»
DOI:
10.35248/2572-5130.21.6.228
