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