نتایج جستجو برای: dowling degos disease
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Dowling-Degos disease (DDD) is an autosomal-dominant disorder of skin pigmentation associated with mutations in keratin 5 (KRT5), protein O-fucosyltransferase 1 (POFUT1), or protein O-glucosyltransferase 1 (POGLUT1). Here, we have identified 6 heterozygous truncating mutations in PSENEN, encoding presenilin enhancer protein 2, in 6 unrelated patients and families with DDD in whom mutations in K...
Degos disease, also referred to as malignant atrophic papulosis, was first described in 1941 by Köhlmeier and was independently described by Degos in 1942. Degos disease is characterized by diffuse, papular skin eruptions with porcelain-white centers and slightly raised erythematous telangiectatic rims associated with bowel infarction. Although the etiology of Degos disease is unknown, autoimmu...
lamotrigine-associated anticonvulsant hypersensitivity syndrome [in French]. Rev Neurol (Paris) 2009;165:821-7. 3. Nagai Y, Hattori T, IshikawaO. A case of hypersensitivity syndrome due to phenytoin. J Dermatol 2002;29:670-3. 4. Molg oM, Carre~ noN, Hoyos-Bachiloglu R, AndresenM,Gonz alez S. Use of intravenous immunoglobulin for the treatment of toxic epidermal necrolysis and Stevens-Johnson/to...
A 18-year-old male patient's case was diagnosed as Degos'disease with pathognomonic skin lesions, accompanied by small bowel perforation, and reported here. Skin histopothological test show that the typical wedge-shaped necrobiosis and lymphocyte inflammatory infiltration. Vessels showed narrowing and thrombosis, with lymphocyte infiltration. Degos' disease is a systemic necrotizing vasculitis....
BACKGROUND Reticulate pigmentary disorders include the rare autosomal dominant Galli-Galli disease (GGD) and Dowling-Degos disease (DDD). Clinical diagnosis between some of the subtypes can be difficult due to a degree of overlap between clinical features, therefore analysis at the molecular level may be necessary to confirm the diagnosis. OBJECTIVES To identify the underlying genetic defect ...
Introduction Degos’ disease is a rare disorder with multisystem involvement and unknown etiology. This entity was first described by Degos in 1942 (1,2). Other synonyms for this disease are malignant atrophic papulosis, atrophic papulosquamous dermatitis, fatal cutaneous-intestinal syndrome, and thromboangiitis cutaneointestinalis disseminata (3). It has been more commonly reported in whites, m...
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