نتایج جستجو برای: degos disease

تعداد نتایج: 1490121  

2015
A. E. Toledo L. S. Shapiro J. F. Farrell C. M. Magro J. Polito

BACKGROUND The malignant form of atrophic papulosis (Köhlmeier-Degos disease) is a rare thrombo-occlusive vasculopathy that can affect multiple organ systems. Patients typically present with distinctive skin lesions reflective of vascular drop out. The small bowel is the most common internal organ involved, resulting in considerable morbidity and mortality attributable to ischemic microperforat...

2010
Lionel Adès Agnes Guerci Emmanuel Raffoux Miguel Sanz Patrice Chevallier Simona Lapusan Christian Recher Xavier Thomas Consuelo Rayon Sylvie Castaigne Olivier Tournilhac Stephane de Botton Norbert Ifrah Jean-Yves Cahn Eric Solary Claude Gardin Nathalie Fegeux Dominique Bordessoule Augustin Ferrant Sandrine Meyer-Monard Norbert Vey Herve Dombret Laurent Degos Sylvie Chevret Pierre Fenaux

Lionel Adès,1,2 Agnes Guerci,3 Emmanuel Raffoux,4 Miguel Sanz,5 Patrice Chevallier,6 Simona Lapusan,7 Christian Recher,8 Xavier Thomas,9 Consuelo Rayon,10 Sylvie Castaigne,11 Olivier Tournilhac,12 Stephane de Botton,13 Norbert Ifrah,14 Jean-Yves Cahn,15 Eric Solary,16 Claude Gardin,17 Nathalie Fegeux,18 Dominique Bordessoule,19 Augustin Ferrant,20 Sandrine Meyer-Monard,21 Norbert Vey,22 Herve D...

Journal: :Actas dermo-sifiliograficas 2008
A Padial V Morales J C Armario-Hita J L Ingunza J M Fernández-Vozmediano

We report a case of a 15-year-old boy with hyperkeratotic lesions that were linear or striated on the palms and nummular on the soles. He was the only family member known to be affected, suggesting that the condition could be attributed to a de novo mutation or the recessive form of keratoderma palmoplantaris striata, described by Degos as chronic idiopathic acrokeratosis. The lesions did not i...

Journal: :The Journal of clinical investigation 2017
Damian J Ralser F Buket Ü Basmanav Aylar Tafazzoli Jade Wititsuwannakul Sarah Delker Sumita Danda Holger Thiele Sabrina Wolf Michélle Busch Susanne A Pulimood Janine Altmüller Peter Nürnberg Didier Lacombe Uwe Hillen Jörg Wenzel Jorge Frank Benjamin Odermatt Regina C Betz

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...

Journal: :The British journal of dermatology 2007
Astrid Schmieder Sandra M Pasternack Dieter Krahl Regina C Betz Martin Leverkus

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...

2013
Lee S Shapiro Aixa E Toledo-Garcia Jessica F Farrell

BACKGROUND Malignant atrophic papulosis (Köhlmeier-Degos disease; MAP) is an uncommon endotheliopathy with pathological findings similar to the vascular lesions of systemic sclerosis. These two disorders can overlap. When associated with visceral lesions, MAP has been considered almost universally and rapidly fatal. A recent report described dramatic response to treatment with eculizumab, but d...

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