title: Phenotype-genotype correlation in 91 patients with familial Mediterranean fever reveals a high frequency of cutaneomucous features.
abstract: OBJECTIVE
  To describe the clinical manifestations of familial Mediterranean fever (FMF) in 91 patients from 47 families and provide data from the genetic study. P:atients and methods. We conducted a retrospective chart review of 91 patients (including 83 children aged <15 yr) from 47 families through a questionnaire and a specific database. The genetic analysis included complete screening of known mutations of the MEFV gene on chromosome 16p13.3. A positive diagnosis required at least two mutations, one on each chromosome.
  
  
  RESULTS
  Our panel included 52 females and 39 males, with a mean age of 7.27 yr. Of the 47 families, 31 were non-Ashkenazi Jews, 10 were Armenians and six were from other ethnic groups. Clinical features included fever (100%), peritonitis (86%), pleuritis (56%), arthritis (34%) and myalgias (27%). We observed a high rate of cutaneous manifestations (47%); erythema, oedema and recurrent oral ulcers were the most frequent. Phenotype-genotype correlations showed a significant association of M694V homozygosity with earlier age of onset (P: = 0.044), fever >39 degrees C (P: = 0. 002), pleural crisis (P: = 0.0044), splenomegaly (P: = 0.0005) and arthritis (P: = 0.001). Associations with mucocutaneous features were as follows: erysipelas-like erythema (P: = 0.012), oedema (P: = 0.61, not significant) and oral ulcers (P: = 0.45, not significant).
  
  
  CONCLUSIONS
  New phenotype-genotype correlations emerged from our study: homozygosity for the M694V mutation was associated with intensity of fever, splenomegaly and with erysipelas-like erythema. Apart from erysipelas-like erythema, no significant association was found between other cutaneous features and the genotype.
authors.affiliation: Service de Pédiatrie, Hôpital Nord, chemin des Bourrelys, 13915 Marseille cedex 20, France.
authors.forename: I
authors.initials: I
authors.lastname: Koné Paut
authors.forename: M
authors.initials: M
authors.lastname: Dubuc
authors.forename: J
authors.initials: J
authors.lastname: Sportouch
authors.forename: P
authors.initials: P
authors.lastname: Minodier
authors.forename: J M
authors.initials: JM
authors.lastname: Garnier
authors.forename: I
authors.initials: I
authors.lastname: Touitou
mesh_terms: D000293:Adolescent; D017668:Age of Onset; D001136:Armenia; D002648:Child; D002885:Chromosomes, Human, Pair 16; D003093:Colitis, Ulcerative / Q000208:ethnology; D003424:Crohn Disease / Q000208:ethnology; D004890:Erythema / Q000175:diagnosis* / Q000208:ethnology / Q000235:genetics*; D010505:Familial Mediterranean Fever / Q000175:diagnosis* / Q000208:ethnology / Q000235:genetics*; D005192:Family Health; D005260:Female; D005838:Genotype; D006720:Homozygote; D006801:Humans; D007585:Jews; D008297:Male; D009092:Mucous Membrane; D009154:Mutation; D010641:Phenotype; D012189:Retrospective Studies; D012720:Severity of Illness Index; D013163:Splenomegaly / Q000175:diagnosis / Q000235:genetics; D013966:Thyroiditis / Q000208:ethnology