Multiple desmoplastic melanomas in Birt-Hogg-Dubé syndrome and a proposed signaling link between folliculin, the mTOR pathway, and melanoma susceptibility.
نویسندگان
چکیده
methotrexate, psoralen–UV-A) or whose disease failed to respond to such treatments. Nail psoriasis is seen in 50% of patients with psoriasis and in about 80% of patients with psoriatic arthritis. The management of nail psoriasis can be very challenging. The choice of treatment depends on the clinical presentation andspecificpatient factors. Systemic treatment is indicated when nail psoriasis is severe or extensive skin lesions and psoriatic arthritis coexist or when topical treatment fails. In our patient, ustekinumab proved rapidly efficacious in the treatment of nail disease, improving his nail abnormality-induced psychological stress. Our findings are in agreement with existing limited data regarding the effectiveness of ustekinumab in nail psoriasis.
منابع مشابه
Folliculin encoded by the BHD gene interacts with a binding protein, FNIP1, and AMPK, and is involved in AMPK and mTOR signaling.
Birt-Hogg-Dubé syndrome, a hamartoma disorder characterized by benign tumors of the hair follicle, lung cysts, and renal neoplasia, is caused by germ-line mutations in the BHD(FLCN) gene, which encodes a tumor-suppressor protein, folliculin (FLCN), with unknown function. The tumor-suppressor proteins encoded by genes responsible for several other hamartoma syndromes, LKB1, TSC1/2, and PTEN, hav...
متن کاملAn 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...
متن کاملKoenen'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
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 pneum...
متن کامل[Birt-Hogg-Dubé syndrome in a patient with cutaneous symptoms and a c.1429 C > T;p.R477X mutation in exon 12 of the folliculin gene].
Birt-Hogg-Dubé syndrome is an autosomal dominant genodermatosis characterized by the presence of fibrofolliculomas, renal cancer, pulmonary cysts, and spontaneous pneumothorax. Recently, the folliculin gene responsible for this process has been identified, located on the short arm of chromosome 17. We present the case of a 49-year-old man with multiple whitish papules on the face, neck, and ret...
متن کاملBirt-Hogg-Dubé syndrome: Clinical and molecular aspects of recently identified kidney cancer syndrome.
Birt-Hogg-Dubé syndrome is an autosomal dominantly inherited disease that predisposes patients to develop fibrofolliculoma, lung cysts and bilateral multifocal renal tumors, histologically hybrid oncocytic/chromophobe tumors, chromophobe renal cell carcinoma, oncocytoma, papillary renal cell carcinoma and clear cell renal cell carcinoma. The predominant forms of Birt-Hogg-Dubé syndrome-associat...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید
ثبت ناماگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید
ورودعنوان ژورنال:
- Archives of dermatology
دوره 146 11 شماره
صفحات -
تاریخ انتشار 2010