Syndrome de Muckle-Wells: description de 4 cas sur trois generations. [Muckle-Wells syndrome: 4 cases in three generations]

Détails

ID Serval
serval:BIB_2E6A95A26420
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Etude de cas (case report): rapporte une observation et la commente brièvement.
Collection
Publications
Titre
Syndrome de Muckle-Wells: description de 4 cas sur trois generations. [Muckle-Wells syndrome: 4 cases in three generations]
Périodique
Annales de Dermatologie et de Venereologie
Auteur(s)
Buxtorf  K., Cerottini  J. P., Fellrath  J. M., Debetaz  L. F., Guillod  J., Panizzon  R. G.
ISSN
0151-9638 (Print)
Statut éditorial
Publié
Date de publication
10/2000
Volume
127
Numéro
10
Pages
822-4
Notes
Case Reports
English Abstract
Journal Article --- Old month value: Oct
Résumé
BACKGROUND: Muckle-Wells syndrome is a hereditary condition with variable penetrance. The main manifestations are urticarial rash, malaise in the evening, joint pain, perception deafness and renal amylosis. CASE REPORT: We describe a family with 4 affected members in 3 successive generations. Clinical expression was variable. DISCUSSION: Despite the absence of renal amylosis in our patients, this family presented the syndrome described by Muckle and Wells in 1962. As for other cases reported in the literature, the clinical course was favorable with low-dose corticosteroid therapy.
Mots-clé
Adolescent Aged Amyloidosis/diagnosis/genetics Arthralgia/diagnosis/genetics Deafness/diagnosis/genetics Female Humans Kidney Diseases/diagnosis/genetics Male Middle Aged Pedigree Skin Diseases, Genetic/diagnosis/*genetics Syndrome Urticaria/diagnosis/*genetics
Pubmed
Web of science
Création de la notice
25/01/2008 16:54
Dernière modification de la notice
20/08/2019 13:12
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