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Table of Contents
Vol. 206, No. 3, 2003
Issue release date: 2003
Section title: Case Report
Dermatology 2003;206:257–259
(DOI:10.1159/000068883)

CIAS1 Mutation in a Patient with Overlap between Muckle-Wells and Chronic Infantile Neurological Cutaneous and Articular Syndromes

Granel B.a · Philip N.b · Serratrice J.a · Ene N.a · Grateau G.d · Dodé C.e · Cuisset L.e · Disdier P.a · Berbis P.c · Delpech M.e · Weiller P.J.a
aService de Médecine Interne et bDépartement de Génétique Médicale, CHU Timone, et cService de Dermatologie, Hôpital Nord, Marseille, dService de Médecine Interne, L’Hôtel-Dieu, et eINSERM EMI 00-5, ICGM, CHU Cochin, Paris, France

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Article / Publication Details

First-Page Preview
Abstract of Case Report

Received: April 11, 2002
Accepted: May 02, 2002
Published online: April 17, 2003
Issue release date: 2003

Number of Print Pages: 3
Number of Figures: 2
Number of Tables: 0

ISSN: 1018-8665 (Print)
eISSN: 1421-9832 (Online)

For additional information: http://www.karger.com/DRM

Abstract

The Muckle-Wells syndrome is a rare autosomal dominant disorder belonging to the group of hereditary fever syndromes. The chronic infantile neurological cutaneous and articular (CINCA) syndrome is a systemic inflammatory disorder of unknown etiology with neonatal onset. They are considered as two different entities. We report the case of a 36-year-old man suffering since birth from a nonpruritic generalized urticaria, with inflammatory flares, joint manifestations and progressive deafness requiring a bilateral hearing aid. An initial diagnosis of Muckle-Wells syndrome was made. However, the patient had an unusual clinical presentation with slightly dysmorphic facial appearance, clubbing of the fingers, mild mental retardation and papilledema. After a genetic advice, a diagnosis of CINCA syndrome was made. Search for mutations in the CIAS1 gene revealed a new mutation in a heterozygous state. This case report really raises the question of a link between these two inflammatory diseases. Further studies are needed to confirm the involvement of mutations of the CIAS1 gene in CINCA syndrome.

© 2003 S. Karger AG, Basel


Article / Publication Details

First-Page Preview
Abstract of Case Report

Received: April 11, 2002
Accepted: May 02, 2002
Published online: April 17, 2003
Issue release date: 2003

Number of Print Pages: 3
Number of Figures: 2
Number of Tables: 0

ISSN: 1018-8665 (Print)
eISSN: 1421-9832 (Online)

For additional information: http://www.karger.com/DRM


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