{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T20:04:10Z","timestamp":1790712250116,"version":"4.1.0"},"reference-count":7,"publisher":"Oxford University Press (OUP)","issue":"5","license":[{"start":{"date-parts":[[2018,11,1]],"date-time":"2018-11-01T00:00:00Z","timestamp":1541030400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"funder":[{"DOI":"10.13039\/100004440","name":"Wellcome Trust","doi-asserted-by":"publisher","award":["200183\/Z\/15\/Z"],"award-info":[{"award-number":["200183\/Z\/15\/Z"]}],"id":[{"id":"10.13039\/100004440","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000268","name":"Biotechnology and Biological Sciences Research Council","doi-asserted-by":"publisher","award":["BB\/N504142\/1"],"award-info":[{"award-number":["BB\/N504142\/1"]}],"id":[{"id":"10.13039\/501100000268","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000272","name":"National Institute for Health Research","doi-asserted-by":"publisher","award":["RG85443"],"award-info":[{"award-number":["RG85443"]}],"id":[{"id":"10.13039\/501100000272","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2018,11,1]]},"abstract":"<jats:title>Summary<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Midface toddler excoriation syndrome (MiTES) is a condition recently reported in three unrelated children. Habitual scratching from the first year of life inflicted deep, chronic, scarring wounds around the nose and eyes. One child had a mild neurological deficit but there was no other evidence of insensitivity to pain. Bilateral distribution and localization to the midface distinguish MiTES from other causes of self-inflicted skin damage such as trigeminal trophic syndrome. An earlier study of five siblings from a consanguineous Irish family, with lesions corresponding to MiTES plus other sensory deficits, showed homozygous mutations in a gene for hereditary sensory and autonomic neuropathy type VIII (HSAN8), PRDM12.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>To study further cases of MiTES, including analysis of PRDM12.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We describe five further children, from four families, with facial lesions typical of MiTES, in whom mutation analysis of PRDM12 was carried out.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Homozygous or compound heterozygous pathogenic expansions of the PRDM12 polyalanine tract were found in four of five affected individuals, in three families.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Our finding of autosomal recessive mutations in PRDM12 in four of five patients with MiTES extends the phenotypic spectrum of PRDM12 mutations, which usually cause HSAN8, characterized by mutilating self-inflicted wounds of the extremities, lips and tongue. By contrast, MiTES shows severe midfacial lesions with little if any evidence of generalized pain insensitivity. The condition is probably genetically heterogeneous, and other congenital insensitivity to pain and HSAN genes such as SCN11A may be implicated. This new understanding of the nature of MiTES, which can masquerade as factitious disease, will facilitate appropriate management.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/bjd.16893","type":"journal-article","created":{"date-parts":[[2018,6,27]],"date-time":"2018-06-27T08:49:04Z","timestamp":1530089344000},"page":"1135-1140","source":"Crossref","is-referenced-by-count":29,"title":["Midface toddler excoriation syndrome (MiTES) can be caused by autosomal recessive biallelic mutations in a gene for congenital insensitivity to pain,\n                    <i>PRDM12<\/i>"],"prefix":"10.1093","volume":"179","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1773-4011","authenticated-orcid":false,"given":"C.","family":"Moss","sequence":"first","affiliation":[{"name":"Birmingham Women's and Children's Hospital BirminghamU.K"},{"name":"University of Birmingham BirminghamU.K"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.M.","family":"Srinivas","sequence":"additional","affiliation":[{"name":"Department of Pediatric Dermatology Indira Gandhi Institute of Child Health Bangalore Karnataka India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N.","family":"Sarveswaran","sequence":"additional","affiliation":[{"name":"Cambridge Institute for Medical Research University of Cambridge Cambridge U.K"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Nahorski","sequence":"additional","affiliation":[{"name":"Cambridge Institute for Medical Research University of Cambridge Cambridge U.K"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V.K.","family":"Gowda","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology Indira Gandhi Institute of Child Health Bangalore Karnataka India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F.M.","family":"Browne","sequence":"additional","affiliation":[{"name":"Department of Dermatology Our Lady's Children's Hospital Crumlin, DublinIreland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8077-2101","authenticated-orcid":false,"given":"G.","family":"Woods","sequence":"additional","affiliation":[{"name":"Cambridge Institute for Medical Research University of Cambridge Cambridge U.K"},{"name":"Department of Medical Genetics University of Cambridge Cambridge U.K"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2018,11,1]]},"reference":[{"key":"2026042307120304400_bjd16893-bib-0001","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1111\/ced.12997","article-title":"Mid-face toddler excoriation syndrome (MiTES): a new paediatric diagnosis","volume":"42","author":"Srinivas","year":"2017","journal-title":"Clin Exp Dermatol"},{"key":"2026042307120304400_bjd16893-bib-0002","volume-title":"Proceedings of the Royal Academy of Medicine in Ireland Dermatology Meeting","author":"Watson","year":"2014"},{"key":"2026042307120304400_bjd16893-bib-0003","doi-asserted-by":"crossref","first-page":"803","DOI":"10.1038\/ng.3308","article-title":"Transcriptional regulator PRDM12 is essential for human pain perception","volume":"47","author":"Chen","year":"2015","journal-title":"Nat Genet"},{"issue":"Suppl. 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