{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T16:50:02Z","timestamp":1787071802483,"version":"build-2736575974"},"reference-count":24,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T00:00:00Z","timestamp":1787011200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004937","name":"Bundesministerium f\u00fcr Forschung und Technologie","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004937","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Pediatr."],"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Pathogenic\n                      <jats:italic>EDA<\/jats:italic>\n                      gene variants underlying X-linked hypohidrotic ectodermal dysplasia cause either anhidrosis (null mutations) or hypohidrosis (hypomorphic mutations). Due to their inability to sweat, heat-stressed individuals with\n                      <jats:italic>EDA<\/jats:italic>\n                      null mutations are unable to regulate their body temperature without external cooling and are thus vulnerable to heat-induced injury. For the purpose of developing a therapeutic intervention it would be necessary to know what sweat production is sufficient for normal thermoregulation, e.g., by correlating perspiration in a standard test with thermoregulatory ability, so that a certain sweat volume can be used as an endpoint in clinical trials of drug candidates.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      In patients with hypomorphic\n                      <jats:italic>EDA<\/jats:italic>\n                      mutations, perspiration in response to pilocarpine iontophoresis was determined with the Macroduct sweat collector and volumetry after 30\u2005minutes. Parental- or self-reported heat intolerance and clinical signs of overheating were recorded. If sweat production was borderline, exercise-induced and thermal sweating were assessed by infrared thermography of the skin and core temperature monitoring. In addition, a systematic review of the literature reporting sweat volumes obtained after pilocarpine iontophoresis and thermoregulatory ability of patients with hypomorphic\n                      <jats:italic>EDA<\/jats:italic>\n                      mutations was performed.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      We studied a rare cohort of individuals with hypomorphic\n                      <jats:italic>EDA<\/jats:italic>\n                      mutations (\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u200914) managed at the German national centre for ectodermal dysplasias. Subjects who produced more than 15\u2005\u00b5L of sweat upon stimulation with pilocarpine did not show heat intolerance or signs of overheating. Pilocarpine-induced sweating of 16\u2005\u00b5L\/30\u2005min in early childhood was found to correlate with normal thermoregulation at the age of 10 years. The literature review suggested that a pilocarpine-induced sweat production of 15\u2005\u00b5L\/30\u2005min in boys indeed represents the bottom of the normal range.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>A sweat volume \u226515\u2005\u00b5L, measured in a standard test on male infants using the Macroduct system, appears to indicate normal thermoregulatory capacity in the European climate.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.3389\/fped.2026.1934287","type":"journal-article","created":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T15:56:16Z","timestamp":1787068576000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["How much sweating is enough? Predicting thermoregulatory capacity in patients with ectodermal dysplasia based on a minimal pilocarpine-induced sweat volume"],"prefix":"10.3389","volume":"14","author":[{"given":"Anja","family":"Bachfischer","sequence":"first","affiliation":[{"name":"Center for Ectodermal Dysplasias, University Hospital Erlangen","place":["Erlangen, Germany"]},{"name":"Department of Pediatrics, Friedrich-Alexander-Universit\u00e4t Erlangen-N\u00fcrnberg","place":["Erlangen, Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carola","family":"Berking","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Friedrich-Alexander-Universit\u00e4t Erlangen-N\u00fcrnberg","place":["Erlangen, Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Smail","family":"Hadj-Rabia","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Reference Centre for Genodermatoses and Rare Skin Diseases, Hopital Necker-Enfants malades, University of Paris-Cit\u00e9","place":["Paris, France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Umberto","family":"Simeoni","sequence":"additional","affiliation":[{"name":"Division of Pediatrics, University of Lausanne","place":["Lausanne, Switzerland"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna L.","family":"David","sequence":"additional","affiliation":[{"name":"EGA Institute for Women\u2019s Health, University College London","place":["London, United Kingdom"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Holm","family":"Schneider","sequence":"additional","affiliation":[{"name":"Center for Ectodermal Dysplasias, University Hospital Erlangen","place":["Erlangen, Germany"]},{"name":"Department of Pediatrics, Friedrich-Alexander-Universit\u00e4t Erlangen-N\u00fcrnberg","place":["Erlangen, 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