Andersen Ulrik Ørsø, Rosenørn Marie Røsland, Homøe Preben
Department of Otorhinolaryngology and Maxillofacial Surgery, Zealand University Hospital, Køge, Denmark.
Department of Pathology, Zealand University Hospital, Roskilde, Denmark.
Front Surg. 2022 Sep 30;9:1017725. doi: 10.3389/fsurg.2022.1017725. eCollection 2022.
Birt-Hogg-Dubé syndrome (BHD) is a rare inherited autosomal dominant condition caused by a mutation in the tumor suppressor gene FLCN. This mutation predisposes the carrier to multiple pulmonary cysts, recurrent pneumothorax, renal tumors and benign skin tumors. Since the first description of BHD, additional clinical signs have been added to the syndrome and a large variety of benign tumors, such as rhabdomyomas (RM), have been linked with the FLCN gene mutation. RMs are rare tumors derived from striated muscle. The adult extracardiac rhabdomyoma occurs mostly in elderly patients, with a male predominance. It is most often located in the head and neck area and it has a potential of recurrence. We report a case of recurrent multifocal ARM in the oral cavity, present in an elderly woman with BHD and treated surgically. This could add support to RMs being linked to BHD.
Birt-Hogg-Dubé综合征（BHD）是一种罕见的常染色体显性遗传病，由肿瘤抑制基因FLCN突变引起。这种突变使携带者易患多发性肺囊肿、复发性气胸、肾肿瘤和良性皮肤肿瘤。自首次描述BHD以来，该综合征又增加了其他临床体征，并且多种良性肿瘤，如横纹肌瘤（RM），已与FLCN基因突变相关联。横纹肌瘤是源自横纹肌的罕见肿瘤。成人心脏外横纹肌瘤多见于老年患者，男性居多。它最常位于头颈部区域，并且有复发的可能。我们报告了一例老年BHD女性患者口腔内复发性多灶性心脏外横纹肌瘤，并接受了手术治疗。这可能为横纹肌瘤与BHD相关提供支持。
