Aquagenic Wrinkling of the Palm: A Rare Diagnostic Clue of Cystic Fibrosis and the Response to CFTR-Modulating Therapy
| Autor: | Paola M Torres-Laboy, Jesus M Melendez-Montañez, Wilfredo De Jesús-Rojas |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
medicine.medical_specialty
congenital hereditary and neonatal diseases and abnormalities Physical examination Disease Dermatology 030204 cardiovascular system & hematology cftr modulating therapy Cystic fibrosis Pediatrics Pathogenesis cystic fibrosis 03 medical and health sciences skin wrinkling 0302 clinical medicine Edema Genetics Medicine Genetic testing aquagenic palmoplantar keratoderma medicine.diagnostic_test business.industry General Engineering genetic screening medicine.disease Palmoplantar keratoderma cftr mutation Etiology medicine.symptom aquagenic wrinkling of palms business 030217 neurology & neurosurgery |
| Zdroj: | Cureus |
| ISSN: | 2168-8184 |
| Popis: | Aquagenic wrinkling of the palms (AWP), also known as aquagenic palmoplantar keratoderma, is an uncommon dermatosis characterized by transient translucent whitish papules, edema, and hyper-wrinkling of the palms and soles shortly after water immersion. Approximately up to 80% of cases reported are associated with cystic fibrosis (CF) patients and up to 25% with CF carriers. We present the case of a 16-year-old male who complains of new-onset symmetrical edematous wrinkling on his palms associated with brief water exposure. After evaluation and genetic testing, the patient was diagnosed with CF and AWP. While there are numerous theories regarding the pathogenesis of AWP, no consensus has been reached regarding its etiology or relationship with CF. However, given the high prevalence of AWP associated with the genetic disease, physicians should have a high index of suspicion of CF or cystic fibrosis transmembrane regulator (CFTR)-related disease in pediatric patients with this presentation. The presence of AWP as part of the physical examination may help recognize challenging CF cases with uncommon genetic variants. Prompt recognition of CF disease leads to timely initiation of CFTR-modulating therapy, improving the patient's health outcomes and quality of life. In this case, we also present the patient's response to CFTR-modulating therapy and compare with baseline status. |
| Databáze: | OpenAIRE |
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