Multiple desmoplastic melanomas in Birt-Hogg-Dubé syndrome and a proposed signaling link between folliculin, the mTOR pathway, and melanoma susceptibility.

نویسندگان

  • Raymond A Cocciolone
  • Kerry A Crotty
  • Lesley Andrews
  • Nikolas K Haass
  • Fergal J Moloney
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.

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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...

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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

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[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...

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Birt-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...

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عنوان ژورنال:
  • Archives of dermatology

دوره 146 11  شماره 

صفحات  -

تاریخ انتشار 2010