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

Details

Serval ID
serval:BIB_2E6A95A26420
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Institution
Title
Syndrome de Muckle-Wells: description de 4 cas sur trois generations. [Muckle-Wells syndrome: 4 cases in three generations]
Journal
Annales de Dermatologie et de Venereologie
Author(s)
Buxtorf  K., Cerottini  J. P., Fellrath  J. M., Debetaz  L. F., Guillod  J., Panizzon  R. G.
ISSN
0151-9638 (Print)
Publication state
Published
Issued date
10/2000
Volume
127
Number
10
Pages
822-4
Notes
Case Reports
English Abstract
Journal Article --- Old month value: Oct
Abstract
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.
Keywords
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
Create date
25/01/2008 16:54
Last modification date
20/08/2019 13:12
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