2015
DOI: 10.1111/jdv.13085
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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: 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.

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Cited by 7 publications
(4 citation statements)
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“…Efficacy and limitations of OCT diagnosis of skin disease has previously been established in studies of skin appendages, such as hairs and nails . However, various OCT systems with different axial and lateral resolution, different power on the skin and different imaging post‐processing software have been applied in these studies.…”
Section: Discussionmentioning
confidence: 99%
See 1 more Smart Citation
“…Efficacy and limitations of OCT diagnosis of skin disease has previously been established in studies of skin appendages, such as hairs and nails . However, various OCT systems with different axial and lateral resolution, different power on the skin and different imaging post‐processing software have been applied in these studies.…”
Section: Discussionmentioning
confidence: 99%
“…The diagnostic accuracy of OCT in Dermatology has been demonstrated as moderate to high . Several skin diseases have been studied clinically with OCT including disorders involving adnexal structures: sweating , dyshidrotic skin conditions , follicular keratosis , abnormal hair growth , hair transplantation and acne . Identification and measurement of hair follicle calibers, size/condition of hair follicles and sweat gland structures can be useful in monitoring these diseases.…”
Section: Introductionmentioning
confidence: 99%
“…The ability to perspire is reduced due to sweat gland dysfunction, and so patients are predisposed to develop hyperpyrexia due to the misregulation of the body temperature [ 8 , 11 , 16 , 17 ]. This clinical symptom was reported by patients 1 and 2, especially during sports activities or high ambient temperatures.…”
Section: Discussionmentioning
confidence: 99%
“…Modern imaging techniques such as optical coherence tomography (OCT) and reflectance confocal microscopy (RCM) have proven useful in practice for the noninvasive diagnosis of non-melanoma skin cancer and treatment monitoring [6][7][8] . Reaction and response to treatment were mainly evaluated by clinical examination, while OCT and RCM were used to monitor the response, similar to monitoring the therapeutic success of IM gel in actinic keratosis 9 .…”
Section: Introductionmentioning
confidence: 99%