New Mutation in the Birt Hogg Dube Gene
نویسندگان
چکیده
منابع مشابه
New Mutation in the Birt Hogg Dube Gene.
Patients with Birt-Hogg-Dube syndrome have an increased risk of developing hamartomas of the pilosebaceous unit, renal tumors of various types, lung cysts, and spontaneous pneumothorax. We present the case of a 54-year-old woman with a long history of whitish papules in the central region of the face and a family history of similar lesions. Biopsy and genetic study revealed a new mutation of th...
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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...
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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...
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ژورنال
عنوان ژورنال: Actas Dermo-Sifiliográficas (English Edition)
سال: 2010
ISSN: 1578-2190
DOI: 10.1016/s1578-2190(10)70686-7