Image in medicine
Aquagenic keratoderma and cystic fibrosis screening
Queratodermia acuagénica y despistaje de fibrosis quística
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He reported no relevant pharmacological history, no contact with toxic substances, nor a remarkable family history. Physical examination revealed induration of the skin of his palms. Following an immersion test, multiple translucid, whitish papules appeared on his palms, in addition to increased skin wrinkling, both of which disappeared within a few minutes of drying the skin (<a class="elsevierStyleCrossRef" href="#fig0010">Fig. 2</a>). Thus, this test allowed for establishing a diagnosis of aquagenic keratoderma. Based on this finding, genetic testing to identify mutations in the cystic fibrosis gene were requested, detecting a heterozygous mutation in the cystic fibrosis transmembrane conductance regulator (<span class="elsevierStyleItalic">CFTR</span>) gene.</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><elsevierMultimedia ident="fig0010"></elsevierMultimedia><p id="par0010" class="elsevierStylePara elsevierViewall">Aquagenic keratoderma is a rare disorder whose diagnosis is reached based on an evaluation of the patient’s clinical history and a physical examination, without the need for histopathological sampling. Because it is frequently associated with the presence of mutations in the cystic fibrosis gene, attending physicians must be aware of said possibility. Botulinum toxin injections may prove to be a good therapeutic option for this ailment.</p></span>" "pdfFichero" => "main.pdf" "tienePdf" => true "NotaPie" => array:1 [ 0 => array:2 [ "etiqueta" => "☆" "nota" => "<p class="elsevierStyleNotepara" id="npar0005">Please cite this article as: Martín Carmona J, Gómez Moyano E, Gómez Huelgas R, Martínez Pilar L. Queratodermia acuagénica y despistaje de fibrosis quística. 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