title: [Aquagenic palmar keratoderma in a patient heterozygous for the mutation c.3197G>C in the CFTR gene].
abstract: BACKGROUND
  Aquagenic palmar keratoderma is an entity recently described in the literature by English and McCollough in 1996. It is a rare condition affecting young women and is of unknown incidence. It causes a wrinkled and oedematous appearance in the skin of the hands that may be seen a few minutes after immersion in water. This condition may be associated with a heterozygous mutation in CFTR, the gene involved in cystic fibrosis. We report the first case of aquagenic keratoderma associated with a new mutation in the CFTR gene.
  
  
  METHODS
  An 18-year-old patient with no particular history was referred for a painful rash on both palms occurring whenever she showered, and which had been ongoing for several months. The clinical examination was normal except for an appearance of moderate palmar hyperhidrosis. Following a test in which both hands were immersed in cold water for 5minutes, the patient presented itching, burning and pain localized to the hands. The palms were wrinkled and oedematous with white, translucent and confluent papules. A clinical diagnosis of aquagenic palmar keratoderma was made. Since this condition may be associated with mutations in the CFTR gene, a genetic study was performed for this patient and revealed the presence of a new mutation in the CFTR gene for cystic fibrosis in the heterozygous state inherited from her mother: c.3197G>C or p.Arg1066.Pro and a heterozygous polypyrimidic 5T variant inherited from her father.
  
  
  CONCLUSIONS
  We report a new case of aquagenic palmar keratoderma in a patient heterozygous for a new mutation of the gene involved in cystic fibrosis. Several studies have shown association of aquagenic keratoderma with the CFTR gene for heterozygotes (carriers without cystic fibrosis), for patients with cystic fibrosis and for a patient presenting CFTRopathy with pancreatic insufficiency.
authors: Service de dermatologie, CHR d'Orléans, 4, rue de Larçay, 45032 Orléans cedex 1, France.
authors: M
authors: M
authors: Nadal
authors: Structure interne de génétique, CHR d'Orléans, 45067 Orléans cedex 2, France.
authors: B
authors: B
authors: Laudier
authors: Département de biochimie et génétique, pôle de biologie, CHU d'Angers, 49933 Angers cedex 9, France.
authors: M C
authors: MC
authors: Malinge
authors: Service de dermatologie, CHR d'Orléans, 4, rue de Larçay, 45032 Orléans cedex 1, France.
authors: R
authors: R
authors: Binois
authors: Service de dermatologie, CHR d'Orléans, 4, rue de Larçay, 45032 Orléans cedex 1, France. Electronic address: eric.esteve@chr-orleans.fr.
authors: E
authors: E
authors: Estève
mesh_terms: D000293:Adolescent; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005260:Female; D006579:Heterozygote; D006801:Humans; D007645:Keratoderma, Palmoplantar / Q000209:etiology / Q000235:genetics*; D009154:Mutation; D014867:Water / Q000009:adverse effects
chemical_list: D014867:Water; D019005:Cystic Fibrosis Transmembrane Conductance Regulator
keywords: Aquagenic palmar keratoderma; CFTR; Cystic fibrosis; Kératodermie aquagénique palmaire; Mucoviscidose; Mutation