Αρχειοθήκη ιστολογίου

Τρίτη 22 Αυγούστου 2017

Treatment of selective antibody deficiency with IVIG resulting in decreased frequency of streptococcal infection and improvement of guttate psoriasis. Dhandha, Maulik M; Siegfried, Elaine C; Knutsen, Alan P

Multiple endocrine neoplasia (MEN) type I, an autosomal dominant disorder caused by mutations in the MEN1 gene, is classically associated with parathyroid, pituitary, and pancreatic tumors. Patients with MEN type I also frequently exhibit multiple cutaneous lesions, specifically facial angiofibromas and collagenomas. Herein we describe a patient with genetically confirmed MEN type I syndrome who presented with trichodiscomas, skin tumors characteristic of Birt-Hogg-Dubé (BHD) syndrome. Although BHD is associated with mutations in the folliculin (FLCN) gene, this patient with trichodiscomas was negative for the FLCN mutation.

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Medicine by Alexandros G. Sfakianakis,Anapafseos 5 Agios Nikolaos 72100 Crete Greece,00302841026182,00306932607174,alsfakia@gmail.com,

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