{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,12]],"date-time":"2026-09-12T02:37:44Z","timestamp":1789180664597,"version":"build-2803163510"},"reference-count":15,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2013,4,23]],"date-time":"2013-04-23T00:00:00Z","timestamp":1366675200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2013,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:label\/><jats:p>X\u2010linked reticulate pigmentation disorder with systemic manifestations (XLPDR) is an extremely rare genodermatosis with recessive X\u2010linked inheritance but unknown molecular basis. In males, cutaneous involvement is characterized by reticulate hyperpigmentation of the skin that is associated with a typical facies and severe systemic involvement. In the carrier females, manifestations are apparently limited to the skin with patchy linear hyperpigmentation following the lines of Blaschko that are similar to stage III incontinentia pigmenti. Thus far, only five families affected by this disorder have been described. We report on a new family with clinical features of XLPDR and compare it with those reported in the literature. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.35882","type":"journal-article","created":{"date-parts":[[2013,4,23]],"date-time":"2013-04-23T20:20:47Z","timestamp":1366748447000},"page":"1414-1420","source":"Crossref","is-referenced-by-count":29,"title":["X\u2010linked reticulate pigmentary disorder with systemic manifestations: A new family and review of the literature"],"prefix":"10.1002","volume":"161","author":[{"given":"Lidia","family":"Pezzani","sequence":"first","affiliation":[{"name":"Division of Biology and Genetics, Department of Biomedical Sciences and Biotechnology, Medical Faculty University of Brescia Brescia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michela","family":"Brena","sequence":"additional","affiliation":[{"name":"Center for Inherited Cutaneous Diseases, Department of Pediatric Dermatology, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico di Milano University of Milan Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michele","family":"Callea","sequence":"additional","affiliation":[{"name":"Institute for Maternal and Child Health IRCCS \u201cBurlo Garofolo\u201d Trieste Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marina","family":"Colombi","sequence":"additional","affiliation":[{"name":"Division of Biology and Genetics, Department of Biomedical Sciences and Biotechnology, Medical Faculty University of Brescia Brescia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gianluca","family":"Tadini","sequence":"additional","affiliation":[{"name":"Center for Inherited Cutaneous Diseases, Department of Pediatric Dermatology, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico di Milano University of Milan Milan Italy"},{"name":"Department of Pediatric Clinic 1, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico di Milano University of Milan Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,4,23]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1525-1470.1993.tb00396.x"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1525-1470.2005.22206.x"},{"key":"e_1_2_5_4_1","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1186\/1746-160X-8-S1-P9","article-title":"Oral manifestations in a boy with X\u2010linked reticulate pigmentary disorder","volume":"8","author":"Callea M","year":"2012","journal-title":"Head Face Med"},{"key":"e_1_2_5_5_1","first-page":"102","article-title":"X\u2010linked reticulate pigmentary disorder: Report of a new family","volume":"18","author":"Fernandez\u2010Guarino M","year":"2008","journal-title":"Eur J Dermatol"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1080\/03014460701723912"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0560.2011.01701.x"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320520115"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-008-0498-4"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-4632.2010.04102.x"},{"key":"e_1_2_5_11_1","first-page":"85","article-title":"X\u2010linked reticulate pigmentary layer. 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