{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,13]],"date-time":"2025-10-13T09:10:08Z","timestamp":1760346608025,"version":"3.37.3"},"reference-count":15,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2017,9,25]],"date-time":"2017-09-25T00:00:00Z","timestamp":1506297600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100004442","name":"Narodowym Centrum Nauki","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004442","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100005632","name":"Narodowe Centrum Bada\u0144 i Rozwoju","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100005632","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2017,11]]},"abstract":"<jats:sec><jats:label\/><jats:p>Ichthyosis with confetti (IWC) is a severe congenital genodermatosis characterized by ichthyosiform erythroderma since birth and confetti\u2010like spots of normal skin appearing in childhood as a results of revertant mosaicism. This disorder is caused by mutations in <jats:italic>KRT10<\/jats:italic> or <jats:italic>KRT1 g<\/jats:italic>enes. We report a 16\u2010year\u2010old boy who presented ichthyosiform erythroderma with severe desquamation since birth and gradually worsening psycho\u2010neurological symptoms (mental retardation, ataxia, dystonia, hypoacusis). The patient conspicuously lacked typical confetti\u2010like spots at the age of 16. The molecular diagnostics by the whole exome sequencing showed a novel de novo (c.1374\u20102A&gt;C) mutation in the <jats:italic>KRT10<\/jats:italic> gene responsible for the development of IWC (<jats:italic>KRT10<\/jats:italic> defect was confirmed by immunofluorescent study). Concurrently, the m.14484T&gt;C mutation in mitochondrial <jats:italic>MTND6<\/jats:italic> gene (characteristic for Leber's hereditary optic neuropathy or LHON) was detected in patient, his mother and brother. LHON causes frequent inherited blindness typically appearing during young adult life whose expression can be triggered by additional factors such as smoking or alcohol exposure. We speculate the effects of <jats:italic>KRT10<\/jats:italic> and LHON mutations influence each other\u2014skin inflammatory reaction due to severe ichthyosis might trigger the development of psychoneurological abnormalities whereas the mitochondrial mutation may reduce revertant mosaicism phenomenon resulting in the lack of confetti\u2010like spots characteristic for IWC. However, based on a single case we should be cautious about attributing phenotypes to digenic mechanisms without functional data.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38403","type":"journal-article","created":{"date-parts":[[2017,9,25]],"date-time":"2017-09-25T06:13:47Z","timestamp":1506320027000},"page":"3093-3097","source":"Crossref","is-referenced-by-count":6,"title":["Coexistence of mutations in keratin 10 (KRT10) and the mitochondrial genome in a patient with ichthyosis with confetti and Leber's hereditary optic neuropathy"],"prefix":"10.1002","volume":"173","author":[{"given":"Agnieszka","family":"Kalinska\u2010Bienias","sequence":"first","affiliation":[{"name":"Department of Dermatology and Immunodermatology Medical University of Warsaw Warsaw Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Agnieszka","family":"Pollak","sequence":"additional","affiliation":[{"name":"Department of Genetics Institute of Physiology and Pathology of Hearing Warsaw Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cezary","family":"Kowalewski","sequence":"additional","affiliation":[{"name":"Department of Dermatology and Immunodermatology Medical University of Warsaw Warsaw Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Urszula","family":"Lechowicz","sequence":"additional","affiliation":[{"name":"Department of Genetics Institute of Physiology and Pathology of Hearing Warsaw Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Piotr","family":"Stawinski","sequence":"additional","affiliation":[{"name":"Department of Genetics Institute of Physiology and Pathology of Hearing Warsaw Poland"},{"name":"Department of Medical Genetics Medical University of Warsaw Warsaw Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aleksandra","family":"Gergont","sequence":"additional","affiliation":[{"name":"Chair of Children and Adolescents' Neurology University Children's Hospital Jagiellonian University Medical College Krakow Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joanna","family":"Kosinska","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Medical University of Warsaw Warsaw Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ewa","family":"Pronicka","sequence":"additional","affiliation":[{"name":"The Children's Memorial Health Institute Warsaw Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pawel","family":"Kowalski","sequence":"additional","affiliation":[{"name":"The Children's Memorial Health Institute Warsaw Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katarzyna","family":"Wozniak","sequence":"additional","affiliation":[{"name":"Department of Dermatology and Immunodermatology Medical University of Warsaw Warsaw Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6286-5526","authenticated-orcid":false,"given":"Rafal","family":"Ploski","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Medical University of Warsaw Warsaw Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2017,9,25]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2011.10639.x"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1192280"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamadermatol.2014.2525"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.2340\/00015555-1796"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2011.02.014"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-015-0336-4"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.2340\/00015555-2299"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jid.2016.04.023"},{"key":"e_1_2_5_10_1","first-page":"522","article-title":"Congenital reticular ichthyosiform erythroderma","volume":"10","author":"Marghescu S.","year":"1984","journal-title":"Hautarzt"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrg1327"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCRESAHA.114.302662"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamadermatol.2014.2526"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jid.2016.05.109"},{"key":"e_1_2_5_15_1","unstructured":"P. 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