Phaeochromocytoma in a patient with a Birt-Hogg-Dubé syndrome phenotype

Alkundi, Alamin; Momoh, Rabiu

doi:10.1136/bcr-2022-252362

BMJ Case Rep

2023

DOI: 10.1136/bcr-2022-252362

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Phaeochromocytoma in a patient with a Birt-Hogg-Dubé syndrome phenotype

Alamin Alkundi

Rabiu Momoh

Abstract: A case of phaeochromocytoma in a female patient in her 50s with phenotypical expressions for the rare Birt-Hogg-Dubé (BHD) syndrome is presented. Whether this is an incidental finding or that there is a composite relationship between these two entities remains to be fully described. Less than 10 cases reporting likely association of BHD syndrome with adrenal tumours have been reported in the literature to date.

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2024

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Folliculin gene-negative Birt-Hogg-Dube syndrome: a case report

Dwikat,

Azar,

Rabayah

et al. 2024

Annals of Medicine &Amp; Surgery

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Introduction and Importance: Birt-Hogg-Dube (BHD) is a rare genetic disorder that results from a mutation in the folliculin (FLCN) gene. Manifestations include pulmonary cysts, fibrofolliculomas, renal tumors, and pneumothoraces. Genetic testing can be used to confirm the diagnosis when suspected. BHD syndrome is diagnosed in patients with negative FLCN gene results using diagnostic criteria. Case Presentation: A male in his twenties presented with recurrent pneumothoraces. Physical examination revealed bumps on his face and upper body. Chest CT scan revealed cystic lesions. Blood tests, ESR, and CRP levels were unremarkable. Punch skin biopsy revealed fibrofolliculomas. Genetic testing for the FLCN mutation returned negative. His history, physical exam, imaging, and histopathology suggested BHD syndrome despite having negative family history and genetic analysis. Eventually, the patient was diagnosed with FLCN gene-negative BHD syndrome. Clinical Discussion: More than a hundred families have been identified to have BHD worldwide. There are a few cases in the literature describing patients phenotypically presenting with BHD despite having negative genetic analysis. One study in Japan found 16 out of 157 individuals having clinical presentation of BHD with no mutations. Also, decreased expression of the FLCN mRNA may lead to BHD. Conclusion: BHD syndrome can present with negative FLCN gene mutation; however, patients must meet the known diagnostic criteria such as criteria made by Menko et al., Gupta et al., and Schmidt et al. in order to have a diagnosis of BHD syndrome. Also, qualitative decrease of FLCN with absence of mutations may also lead to BHD.

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Folliculin gene-negative Birt-Hogg-Dube syndrome: a case report

Dwikat,

Azar,

Rabayah

et al. 2024

Annals of Medicine &Amp; Surgery

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show abstract

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Phaeochromocytoma in a patient with a Birt-Hogg-Dubé syndrome phenotype

Cited by 1 publication

References 16 publications

Folliculin gene-negative Birt-Hogg-Dube syndrome: a case report

Folliculin gene-negative Birt-Hogg-Dube syndrome: a case report

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