{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,3]],"date-time":"2026-06-03T00:13:28Z","timestamp":1780445608066,"version":"3.54.1"},"reference-count":20,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2015,3,9]],"date-time":"2015-03-09T00:00:00Z","timestamp":1425859200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Acad Dermatol Venereol"],"published-print":{"date-parts":[[2016,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Anhidrotic ectodermal dysplasia (<jats:styled-content style=\"fixed-case\">AED<\/jats:styled-content>) is an inherited syndrome, which originates mainly from genetic alteration of the ectodysplasin A (<jats:styled-content style=\"fixed-case\">EDA<\/jats:styled-content>) gene. It regularly affects the adnexa of the skin which results in a characteristic phenotype of the patients including hypo\u2010 or anhidrosis leading to severe disturbances in the regulation of body temperature.<\/jats:p><\/jats:sec><jats:sec><jats:title>Objectives<\/jats:title><jats:p>To 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\u2010invasive imaging methods such as optical coherence tomography (<jats:styled-content style=\"fixed-case\">OCT<\/jats:styled-content>) and reflectance confocal microscopy (<jats:styled-content style=\"fixed-case\">RCM<\/jats:styled-content>) in the immediate diagnosis of <jats:styled-content style=\"fixed-case\">AED<\/jats:styled-content>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We examined a 3\u2010year\u2010old boy with the suspicion for an <jats:styled-content style=\"fixed-case\">AED<\/jats:styled-content> syndrome and his family members with <jats:styled-content style=\"fixed-case\">RCM<\/jats:styled-content> and <jats:styled-content style=\"fixed-case\">OCT<\/jats:styled-content> to document presence and characteristic features of sweat glands in comparison to non\u2010affected individuals.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The 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 <jats:styled-content style=\"fixed-case\">EDA<\/jats:styled-content> gene for hemizygosity previously associated with <jats:styled-content style=\"fixed-case\">AED<\/jats:styled-content> and the mother was revealed as the conductor of the genetic alteration.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>With the help of non\u2010invasive 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 <jats:styled-content style=\"fixed-case\">AED<\/jats:styled-content>. The application of modern dermatological imaging techniques might serve as valuable supplementary tools in the immediate, non\u2010invasive diagnosis of genetic syndromes especially in newborns when early therapeutic approaches are planned.<\/jats:p><\/jats:sec>","DOI":"10.1111\/jdv.13085","type":"journal-article","created":{"date-parts":[[2015,3,10]],"date-time":"2015-03-10T02:33:40Z","timestamp":1425954820000},"page":"677-682","source":"Crossref","is-referenced-by-count":8,"title":["Non\u2010invasive diagnosis of sweat gland dysplasia using optical coherence tomography and reflectance confocal microscopy in a family with anhidrotic ectodermal dysplasia (Christ\u2013Siemens\u2013Touraine syndrome)"],"prefix":"10.1111","volume":"30","author":[{"given":"M.","family":"Reinholz","sequence":"first","affiliation":[{"name":"Department of Dermatology and Allergology Ludwig\u2010Maximilian University Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.G.","family":"Gauglitz","sequence":"additional","affiliation":[{"name":"Department of Dermatology and Allergology Ludwig\u2010Maximilian University Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"Giehl","sequence":"additional","affiliation":[{"name":"Department of Dermatology and Allergology Ludwig\u2010Maximilian University Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Braun\u2010Falco","sequence":"additional","affiliation":[{"name":"Department of Dermatology and Allergology Ludwig\u2010Maximilian University Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.","family":"Schwaiger","sequence":"additional","affiliation":[{"name":"Department of Dermatology and Allergology Ludwig\u2010Maximilian University Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Schauber","sequence":"additional","affiliation":[{"name":"Department of Dermatology and Allergology Ludwig\u2010Maximilian University Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T.","family":"Ruzicka","sequence":"additional","affiliation":[{"name":"Department of Dermatology and Allergology Ludwig\u2010Maximilian University Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Berneburg","sequence":"additional","affiliation":[{"name":"Department of Dermatology University of Regensburg Regensburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T.","family":"von Braunm\u00fchl","sequence":"additional","affiliation":[{"name":"Department of Dermatology and Allergology Ludwig\u2010Maximilian University Munich 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