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<p>Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominant disease presenting as fibrofolliculomas commonly on the head, neck, and chest with trichodiscomas and acrochordons. Our patient represents a unique presentation of pheochromocytoma in a BHD patient with primarily lung cysts and nonspecific skin lesions. To our knowledge, only two cases of pheochromocytoma in a patient with BHD have been reported. A 57-year-old Caucasian male with a past medical history of an unknown “kidney tumor” (reported later as pheochromocytoma) presented to dermatology for evaluation of multiple 2–3&#xa0;mm hypopigmented smooth shiny papules across the bridge of the nose and on the medial cheeks. Biopsy revealed fibrofolliculoma likely associated with Birt-Hogg-Dubé Syndrome. The patient was referred for genetic counseling, revealing a FLCN mutation, and computed tomography scan of the chest and abdomen revealing pulmonary cysts. Cutaneous manifestations are the most common feature in BHD syndrome (84%), followed by pulmonary cysts (70%-85%), and renal cell carcinoma (19%-35%). To our knowledge, only eleven cases of adrenal manifestations have been present in patients with BHD, with only two cases reporting pheochromocytomas. More research is needed into the genetic association between BHD and pheochromocytomas to allow for more rapid diagnosis, which is essential for early screening of potential complications of BHD.</p>

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Pheochromocytoma in a Patient with Primarily Pulmonary and Cutaneous Manifestations of Birt-Hogg-Dubé Syndrome: A Case Report and Review of the Literature

  • 期刊论文

  • 发表日期：

    2025年9月19日

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  • Sabrina Dahak,
  • Jacqueline Kunesh,
  • Adina Greene,
  • Sadiq S. Patel,
  • Susan D. Laman

摘要

Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominant disease presenting as fibrofolliculomas commonly on the head, neck, and chest with trichodiscomas and acrochordons. Our patient represents a unique presentation of pheochromocytoma in a BHD patient with primarily lung cysts and nonspecific skin lesions. To our knowledge, only two cases of pheochromocytoma in a patient with BHD have been reported. A 57-year-old Caucasian male with a past medical history of an unknown “kidney tumor” (reported later as pheochromocytoma) presented to dermatology for evaluation of multiple 2–3 mm hypopigmented smooth shiny papules across the bridge of the nose and on the medial cheeks. Biopsy revealed fibrofolliculoma likely associated with Birt-Hogg-Dubé Syndrome. The patient was referred for genetic counseling, revealing a FLCN mutation, and computed tomography scan of the chest and abdomen revealing pulmonary cysts. Cutaneous manifestations are the most common feature in BHD syndrome (84%), followed by pulmonary cysts (70%-85%), and renal cell carcinoma (19%-35%). To our knowledge, only eleven cases of adrenal manifestations have been present in patients with BHD, with only two cases reporting pheochromocytomas. More research is needed into the genetic association between BHD and pheochromocytomas to allow for more rapid diagnosis, which is essential for early screening of potential complications of BHD.