Recurrent multifocal adult rhabdomyoma in an elderly woman diagnosed with Birt-Hogg-Dubé syndrome: A case report
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Recurrent multifocal adult rhabdomyoma in an elderly woman diagnosed with Birt-Hogg-Dubé syndrome : A case report. / Andersen, Ulrik Ørsø; Rosenørn, Marie Røsland; Homøe, Preben.
In: Frontiers in Surgery, Vol. 9, 1017725, 2022.Research output: Contribution to journal › Journal article › Research › peer-review
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TY - JOUR
T1 - Recurrent multifocal adult rhabdomyoma in an elderly woman diagnosed with Birt-Hogg-Dubé syndrome
T2 - A case report
AU - Andersen, Ulrik Ørsø
AU - Rosenørn, Marie Røsland
AU - Homøe, Preben
N1 - Publisher Copyright: 2022 Andersen, Rosenørn and Homøe.
PY - 2022
Y1 - 2022
N2 - 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.
AB - 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.
KW - Birt-Hogg-Dubé (BHD)
KW - multifocal
KW - oral cavity
KW - recurrent
KW - rhabdomyoma (MeSH)
U2 - 10.3389/fsurg.2022.1017725
DO - 10.3389/fsurg.2022.1017725
M3 - Journal article
C2 - 36338635
AN - SCOPUS:85141141875
VL - 9
JO - Frontiers in Surgery
JF - Frontiers in Surgery
SN - 2296-875X
M1 - 1017725
ER -
ID: 340411403