Aquagenic palmar wrinkling as a presenting feature of cystic fibrosis gene dysfunction
| Autor: | L. C. Stewart, S. J. Bourke, S. Leech, S. J. Doe |
|---|---|
| Rok vydání: | 2009 |
| Předmět: |
Adult
Pathology medicine.medical_specialty Unusual case Cystic Fibrosis Genotype Cystic fibrosis gene business.industry Skin Absorption Cystic Fibrosis Transmembrane Conductance Regulator Genetic Variation Water Palmar wrinkling Hand Dermatoses Dermatology medicine.disease Cystic fibrosis Lung disease Immersion medicine Humans Female business |
| Zdroj: | Clinical and Experimental Dermatology. 34:e647-e649 |
| ISSN: | 1365-2230 0307-6938 |
| DOI: | 10.1111/j.1365-2230.2009.03357.x |
| Popis: | Summary 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|