caa a22 4500 46798624X CHVBK 20180323112532.0 cr unu---uuuuu 170328e19901101xx s 000 0 eng 10.1007/BF00205164 doi (NATIONALLICENCE)springer-10.1007/BF00205164 Identification of functioning sweat pores and visualization of skin temperature patterns in X-linked hypohidrotic ectodermal dysplasia by whole body thermography [Elektronische Daten] [R. Clark, M. Goff, K. MacDermot] Summary: In this preliminary study, non-invasive infrared thermography has been used to visualize individual sweat pores and whole body skin temperature patterns in subjects with X-linked hypohidrotic ectodermal dysplasia (XHED) and normal controls. The findings in eight obligate heterozygotes and four affected males were compared to six normal female controls and to six non-manifesting females at risk for carrier status. Sweat secretion from individual pores in circumscribed areas was imaged using a high spatial resolution SPRITE infrared detector system working in the 8-14 μm band. In seven out of eight obligate heterozygotes, skin areas devoid of active sweat glands were found on the face, the hands or the trunk. Tear front movement over the cornea was also visualized and abnormal patterns were identified in obligate heterozygotes. Whole body skin temperature patterns, obtained with an Agema 780 Medical Thermovision system, identified abnormal skin temperature distributions, including characteristic aberrant "cas-cade” back patterns, in obligate carriers. Two out of six "at risk” females had skin temperature patterns comparable with obligate heterozygotes and we have tentatively concluded that they are carriers. Thermal imaging may be used for the examination of "at risk” non-manifesting females in families with a single affected male. The results of this study suggest that the random X-inactivation in females with XHED, as well as producing relatively large skin areas with sweat pore aplasia, is also associated with abnormal temperature patterns that are consistent with altered peripheral vascular perfusion. Springer-Verlag, 1990 Clark R. Thermal Biology Unit, King's College, Campden Hill Road, W8 7AH, London, UK aut Goff M. Thermal Biology Unit, King's College, Campden Hill Road, W8 7AH, London, UK aut MacDermot K. Clinical Genetics, Royal Free Hospital School of Medicine, Rowland Hill Street, NW3 2PF, London, UK aut Human Genetics Springer-Verlag 86/1(1990-11-01), 7-13 0340-6717 86:1<7 1990 86 439 https://doi.org/10.1007/BF00205164 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF00205164 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Clark R. Thermal Biology Unit, King's College, Campden Hill Road, W8 7AH, London, UK aut NATIONALLICENCE 700 1- Goff M. Thermal Biology Unit, King's College, Campden Hill Road, W8 7AH, London, UK aut NATIONALLICENCE 700 1- MacDermot K. Clinical Genetics, Royal Free Hospital School of Medicine, Rowland Hill Street, NW3 2PF, London, UK aut NATIONALLICENCE 773 0- Human Genetics Springer-Verlag 86/1(1990-11-01), 7-13 0340-6717 86:1<7 1990 86 439 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer