Non-invasive diagnosis of sweat gland dysplasia using optical coherence tomography and reflectance confocal microscopy in a family with anhidrotic ectodermal dysplasia (Christ-Siemens-Touraine syndrome)
| Autor: | Kathrin A. Giehl, Jürgen Schauber, Markus Braun-Falco, T. von Braunmühl, Gerd G. Gauglitz, Hannah Schwaiger, Mark Berneburg, Markus Reinholz, Thomas Ruzicka |
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| Rok vydání: | 2015 |
| Předmět: |
Adult
Male 0301 basic medicine Ectodermal dysplasia Pathology medicine.medical_specialty Adolescent Pilot Projects Context (language use) Dermatology 030105 genetics & heredity Young Adult 03 medical and health sciences Optical coherence tomography Ectodermal Dysplasia Sweat gland Biopsy Sweat Gland Diseases medicine Humans Family Prospective Studies Anhidrosis Microscopy Confocal medicine.diagnostic_test business.industry medicine.disease Infectious Diseases medicine.anatomical_structure Dysplasia Child Preschool Female Ectodysplasin A medicine.symptom business Tomography Optical Coherence |
| Zdroj: | Europe PubMed Central |
| ISSN: | 0926-9959 |
| DOI: | 10.1111/jdv.13085 |
| Popis: | BackgroundAnhidrotic ectodermal dysplasia (AED) is an inherited syndrome, which originates mainly from genetic alteration of the ectodysplasin A (EDA) gene. It regularly affects the adnexa of the skin which results in a characteristic phenotype of the patients including hypo- or anhidrosis leading to severe disturbances in the regulation of body temperature. ObjectivesTo prevent the development of the symptoms in early childhood promising therapeutic approaches are currently under clinical investigation. In this context, timely diagnosis of this genetic syndrome is crucial. The purpose of our study was the investigation of modern non-invasive imaging methods such as optical coherence tomography (OCT) and reflectance confocal microscopy (RCM) in the immediate diagnosis of AED. MethodsWe examined a 3-year-old boy with the suspicion for an AED syndrome and his family members with RCM and OCT to document presence and characteristic features of sweat glands in comparison to non-affected individuals. ResultsThe patient and the affected brother showed significantly reduced sweat glands in the imaging compared to the controls. The genetic analysis revealed a mutation of the EDA gene for hemizygosity previously associated with AED and the mother was revealed as the conductor of the genetic alteration. ConclusionsWith the help of non-invasive imaging, we were able to detect sweat gland dysplasia in the affected family members without performing a biopsy which led us to the diagnosis of an AED. The application of modern dermatological imaging techniques might serve as valuable supplementary tools in the immediate, non-invasive diagnosis of genetic syndromes especially in newborns when early therapeutic approaches are planned. |
| Databáze: | OpenAIRE |
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