CIAS1 mutation in a patient with overlap between Muckle-Wells and chronic infantile neurological cutaneous and articular syndromes.
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.
Granel
B
B
Service de Médecine Interne, CHU Timone, Marseille, France.
Philip
N
N
Serratrice
J
J
Ene
N
N
Grateau
G
G
Dodé
C
C
Cuisset
L
L
Disdier
P
P
Berbis
P
P
Delpech
M
M
Weiller
P J
PJ
D000328:Adult; D001168:Arthritis / Q000235:genetics*; D001798:Blood Proteins / Q000235:genetics*; D002352:Carrier Proteins / Q000235:genetics*; D002908:Chronic Disease; D003638:Deafness / Q000235:genetics*; D003937:Diagnosis, Differential; D005145:Face / Q000002:abnormalities*; D005385:Fingers / Q000002:abnormalities; D006801:Humans; D008297:Male; D009154:Mutation; D000071199:NLR Family, Pyrin Domain-Containing 3 Protein; D013577:Syndrome; D014581:Urticaria / Q000235:genetics*
D001798:Blood Proteins; D002352:Carrier Proteins; D000071199:NLR Family, Pyrin Domain-Containing 3 Protein; C453881:NLRP3 protein, human