title: 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).
abstract: BACKGROUND
  Anhidrotic 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.
  
  
  OBJECTIVE
  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-invasive imaging methods such as optical coherence tomography (OCT) and reflectance confocal microscopy (RCM) in the immediate diagnosis of AED.
  
  
  METHODS
  We 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.
  
  
  RESULTS
  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 EDA gene for hemizygosity previously associated with AED and the mother was revealed as the conductor of the genetic alteration.
  
  
  CONCLUSIONS
  With 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.
authors.affiliation: Department of Dermatology and Allergology, Ludwig-Maximilian University, Munich, Germany.
authors.forename: M
authors.initials: M
authors.lastname: Reinholz
authors.affiliation: Department of Dermatology and Allergology, Ludwig-Maximilian University, Munich, Germany.
authors.forename: G G
authors.initials: GG
authors.lastname: Gauglitz
authors.affiliation: Department of Dermatology and Allergology, Ludwig-Maximilian University, Munich, Germany.
authors.forename: K
authors.initials: K
authors.lastname: Giehl
authors.affiliation: Department of Dermatology and Allergology, Ludwig-Maximilian University, Munich, Germany.
authors.forename: M
authors.initials: M
authors.lastname: Braun-Falco
authors.affiliation: Department of Dermatology and Allergology, Ludwig-Maximilian University, Munich, Germany.
authors.forename: H
authors.initials: H
authors.lastname: Schwaiger
authors.affiliation: Department of Dermatology and Allergology, Ludwig-Maximilian University, Munich, Germany.
authors.forename: J
authors.initials: J
authors.lastname: Schauber
authors.affiliation: Department of Dermatology and Allergology, Ludwig-Maximilian University, Munich, Germany.
authors.forename: T
authors.initials: T
authors.lastname: Ruzicka
authors.affiliation: Department of Dermatology, University of Regensburg, Regensburg, Germany.
authors.forename: M
authors.initials: M
authors.lastname: Berneburg
authors.affiliation: Department of Dermatology and Allergology, Ludwig-Maximilian University, Munich, Germany.
authors.forename: T
authors.initials: T
authors.lastname: von Braunmühl
mesh_terms: D000293:Adolescent; D000328:Adult; D002675:Child, Preschool; D004476:Ectodermal Dysplasia / Q000150:complications* / Q000235:genetics; D005190:Family; D005260:Female; D006801:Humans; D008297:Male; D018613:Microscopy, Confocal / Q000379:methods*; D010865:Pilot Projects; D011446:Prospective Studies; D013543:Sweat Gland Diseases / Q000175:diagnosis*; D041623:Tomography, Optical Coherence / Q000379:methods*; D055815:Young Adult