Aquagenic palmar wrinkling as a presenting feature of cystic fibrosis gene dysfunction.
Aquagenic palmar wrinkling (APW) is characterized by the rapid and transient oedematous wrinkling of the palms after brief immersion in water. APW has been associated with cystic fibrosis (CF). Since the discovery of the CF gene, the clinical spectrum of CF has broadened from classic severe CF to include milder 'atypical CF' and 'CF-related disorders'. We report an unusual case in which APW occurred in a patient with no lung disease, and in whom investigations showed evidence of CF gene dysfunction. APW may be a presenting feature of a CF-related disorder and should prompt investigation of CF gene dysfunction.
Stewart
L C
LC
Department of Dermatology, Royal Victoria Infirmary, Newcastle upon Tyne, Newcastle, UK.
Doe
S J
SJ
Bourke
S J
SJ
Leech
S
S
D000328:Adult; D003550:Cystic Fibrosis / Q000150:complications / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005260:Female; D014644:Genetic Variation; D005838:Genotype; D006229:Hand Dermatoses / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D007101:Immersion; D012869:Skin Absorption / Q000235:genetics* / Q000502:physiology; D014867:Water
D014867:Water; D019005:Cystic Fibrosis Transmembrane Conductance Regulator