Autosomal dominant Muckle-Wells syndrome associated with cystinuria, ichthyosis, and aphthosis in a four-generation family.
Muckle-Wells syndrome is a rare autosomal dominant disorder characterized by chronic recurrent urticaria, periodic arthritis, sensorineural deafness, general signs of inflammation, and secondary amyloidosis (AA type). We report on a 4-generation family with 7 persons sharing various signs of this syndrome associated with bipolar aphthosis in 5 cases and cystinuria in one. Two other relatives in the family had ichthyosis.
Berthelot
J M
JM
Department of Rheumatology, Nantes University Hospital, France.
Maugars
Y
Y
Robillard
N
N
Pascal
O
O
Stalder
J F
JF
David
A
A
Prost
A
A
D000293:Adolescent; D000328:Adult; D000686:Amyloidosis / Q000235:genetics*; D001168:Arthritis / Q000235:genetics; D003555:Cystinuria / Q000235:genetics; D005260:Female; D005799:Genes, Dominant; D030342:Genetic Diseases, Inborn / Q000235:genetics*; D006319:Hearing Loss, Sensorineural / Q000235:genetics; D006801:Humans; D007057:Ichthyosis / Q000235:genetics; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D013281:Stomatitis, Aphthous / Q000235:genetics; D013577:Syndrome; D014581:Urticaria / Q000235:genetics*