Koenen's tumor and facial angiofibromas in a case of Birt-Hogg-Dubé syndrome: A cutaneous contribution to growing evidence of a relationship with tuberous sclerosis complex
نویسندگان
چکیده
BHD: Birt-Hogg-Dub e syndrome FLCN: folliculin mTOR: mammalian target of rapamycin TS: tuberous sclerosis complex B irt-Hogg-Dub e syndrome (BHD) is an uncommon autosomal dominant genodermatosis characterized by fibrofolliculomas and trichodiscomas on the face and neck with acrochordons in flexural areas. These skin signs serve as markers for internal disease, most importantly spontaneous pneumothoraces and renal cancers. BHD is caused by a mutation in a tumor suppressor gene. This gene encodes the protein folliculin (FLCN), important for normal functioning of the mammalian target of rapamycin (mTOR) signaling pathway.
منابع مشابه
An inherited cause of pneumothorax--the Birt-Hogg-Dubé syndrome.
A 38-year-old woman presented in 2004 a spontaneous pneumothorax (Figure 1a). Outcome was favorable with treatment with chest tube drainage. Eight years later, she complained of dyspnea. A computed tomography scan of the chest revealed lung cysts (Figure 1b). She presented 2–4mm, white, dome-shaped papules involving the neck, which appeared during the last 2 years. Her brother also presented mu...
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