Oncocytoma of the adrenal gland in Birt-Hogg-Dube syndrome
نویسندگان
چکیده
منابع مشابه
Birt-hogg-dube Syndrome: a Case Report.
Background: Here we present a case of 56 year old female who presented with mild shortness of breath and right side pain. Chest tomography indicated bilateral bullous pulmonary lesions as the causal of the patient’s discomfort and pain. The patient had familial history of cancer and pneumothorax, and had undergone surgery on the left lung due to bullous lesion and pneumothorax. The patient has ...
متن کاملBirt-Hogg-Dube syndrome is a novel ciliopathy.
Birt-Hogg-Dubé (BHD) syndrome is an autosomal dominant disorder where patients are predisposed to kidney cancer, lung and kidney cysts and benign skin tumors. BHD is caused by heterozygous mutations affecting folliculin (FLCN), a conserved protein that is considered a tumor suppressor. Previous research has uncovered multiple roles for FLCN in cellular physiology, yet it remains unclear how the...
متن کاملBirt-Hogg-Dube syndrome presenting as multiple oncocytic parotid tumors
Mutations in FLCN cause Birt-Hogg-Dubé syndrome, an autosomal dominant disorder notable for development of cutaneous fibrofolliculomas or trichodiscomas, a variety of renal tumors, and spontaneous pneumothorax due to cystic lung changes. We present a woman referred for genetic evaluation due to bilateral parotid gland tumors, who was subsequently diagnosed with Birt-Hogg-Dubé syndrome.
متن کاملThe Birt-Hogg-Dube syndrome: dermatological features and internal malignancies.
A 56-year-old Caucasian male presented with a fast-growing subcutaneous tumour on the right shoulder over the last 6 months. On examination, this was a mobile and firm tumour of 4 cm diameter (Figure 1). The patient was also concerned about cosmetic disfigurement from multiple small facial papules. These had been growing gradually over the last 3 years. The past medical history revealed six epi...
متن کاملComedonal and Cystic Fibrofolliculomas in Birt-Hogg-Dube Syndrome.
IMPORTANCE The differential diagnosis of extensive open comedones includes inherited genetic syndromes and several acquired conditions. Birt-Hogg-Dube syndrome (BHD) is not typically included in the differential diagnosis of syndromes with comedonal lesions. Given the potentially life-threatening systemic complications associated with BHD, early recognition and diagnosis of the condition is imp...
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ژورنال
عنوان ژورنال: BMJ Case Reports
سال: 2018
ISSN: 1757-790X
DOI: 10.1136/bcr-2018-224283