To view the fulltext, please log in
To view the pdf, please log in
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.
Copyright / Drug Dosage
Copyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher or, in the case of photocopying, direct payment of a specified fee to the Copyright Clearance Center.
Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in goverment regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug.
Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.
- Muckle TJ, Wells MW: Urticaria, deafness and amyloidosis: A new heredo-familial syndrome. Q J Med 1962;31:235–239.
- Prieur AM, Griscelli C: Arthropathy with rash, chronic meningitis, eye lesions, and mental retardation. J Pediatr 1981;99:79–83.
- Dodé C, Le Dû N, Cuisset L, Letourneur F, Berthelot JM, Vaudour G, Meyrier A, Watts RA, Scott DGI, Nichols A, Granel B, Frances C, Garcier F, Edery P, Boulinguez S, Domergues JP, Delpech M, Grateau G: New mutations of CIAS1 responsible for Muckle-Wells syndrome and familial cold urticaria: A novel mutation underlies both syndromes. Am J Hum Genet 2002;70:1498–1506.
- Prieur AM, Griscelli C, Lambert F, Truckenbrodt H, Guggenheim MA, Lovell DJ, Pelkonnen P, Chevrant-Breton J, Ansell BM: A chronic, infantile, neurological, cutaneous, and articular (CINCA) syndrome: Specific entity analysed in 30 patients. Scand J Rheumatol 1987;66(suppl):57–68.
- Prieur AM: A recently recognised chronic inflammatory disease of early onset characterised by the triad of rash, central nervous system involvement and arthropathy. Clin Exp Rheumatol 2001;19:103–106.
- Milewska-Bobula B, Lipka B, Rowecka-Trzebicka, Rostropowitcz-Denisiewicz K, Romika A, Witwicki JM: Syndrome chronique, infantile, neurologique, cutané et articulaire (CINCA) chez un nourrisson. Arch Pédiatr 1998;5:1094–1097.
- Guillet G, Dupré D, Guillet MH, Prieur AM, Leroy JP, Sassolas B, Le Fur JM: CINCA syndrome revealed by urticaria with major joint involvement. Ann Dermatol Vénéréol 1999;126:331–334.
- Hoffman HM, Mueller JL, Broide DH, Wanderer AA, Kolodner RD: Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome. Nat Genet 2001;29:301–305.
- Lieberman A, Grossman ME, Silvers DN: Muckle-Wells syndrome: Case report and review of cutaneous pathology. J Am Acad Dermatol 1998;39:290–291.
- Linke RP, Heilmann KL, Nathrath WBJ, Eulitz M: Identification of amyloid A protein in a sporadic Muckle-Wells syndrome: N-terminal amino acid sequence after isolation from formalin-fixed tissue. Lab Invest 1983;48:698–704.