title: CIAS1 mutation in a patient with overlap between Muckle-Wells and chronic infantile neurological cutaneous and articular syndromes.
abstract: 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.
authors.affiliation: Service de Médecine Interne, CHU Timone, Marseille, France.
authors.forename: B
authors.initials: B
authors.lastname: Granel
authors.forename: N
authors.initials: N
authors.lastname: Philip
authors.forename: J
authors.initials: J
authors.lastname: Serratrice
authors.forename: N
authors.initials: N
authors.lastname: Ene
authors.forename: G
authors.initials: G
authors.lastname: Grateau
authors.forename: C
authors.initials: C
authors.lastname: Dodé
authors.forename: L
authors.initials: L
authors.lastname: Cuisset
authors.forename: P
authors.initials: P
authors.lastname: Disdier
authors.forename: P
authors.initials: P
authors.lastname: Berbis
authors.forename: M
authors.initials: M
authors.lastname: Delpech
authors.forename: P J
authors.initials: PJ
authors.lastname: Weiller
mesh_terms: 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*
chemical_list: D001798:Blood Proteins; D002352:Carrier Proteins; D000071199:NLR Family, Pyrin Domain-Containing 3 Protein; C453881:NLRP3 protein, human