{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,7]],"date-time":"2026-02-07T17:08:15Z","timestamp":1770484095203,"version":"3.49.0"},"reference-count":12,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2013,3,28]],"date-time":"2013-03-28T00:00:00Z","timestamp":1364428800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatric Dermatology"],"published-print":{"date-parts":[[2015,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Lipoid proteinosis (<jats:styled-content style=\"fixed-case\">LP<\/jats:styled-content>) is a rare autosomal recessive genodermatosis caused by mutations in extracellular matrix protein 1 (<jats:styled-content style=\"fixed-case\">ECM<\/jats:styled-content>1) that involves deposition of basement membrane\u2013like material in the skin and other organs. Epidermodysplasia verruciformis (<jats:styled-content style=\"fixed-case\">EV<\/jats:styled-content>) is also a rare autosomal recessive genodermatosis involving susceptibility to human papillomavirus (<jats:styled-content style=\"fixed-case\">HPV<\/jats:styled-content>) infections and squamous cell carcinoma, caused in most cases by homozygous mutations in <jats:styled-content style=\"fixed-case\">EVER<\/jats:styled-content>1 or <jats:styled-content style=\"fixed-case\">EVER<\/jats:styled-content>2. We describe a case of <jats:styled-content style=\"fixed-case\">EV<\/jats:styled-content> in a patient with <jats:styled-content style=\"fixed-case\">LP<\/jats:styled-content> and discuss the pathophysiology. A 3\u2010year\u2010old Lebanese girl presented with hoarseness, beaded papules along the eyelid margins, waxy papules and plaques on her head and neck, and lichenoid verrucous papules on the forearms and hands. Histopathology of the waxy papules exhibited deposition of periodic acid Schiff\u2013positive basement membrane\u2013like material in the superficial dermis, characteristic of <jats:styled-content style=\"fixed-case\">LP<\/jats:styled-content>. The verruca plana\u2013like lesions exhibited acanthosis and enlarged keratinocytes with pale blue\u2010grey cytoplasm and a perinuclear halo, consistent with verrucae and <jats:styled-content style=\"fixed-case\">EV<\/jats:styled-content>. Polymerase chain reaction amplification and sequencing of <jats:styled-content style=\"fixed-case\">ECM<\/jats:styled-content>1, <jats:styled-content style=\"fixed-case\">EVER<\/jats:styled-content>1, and <jats:styled-content style=\"fixed-case\">EVER<\/jats:styled-content>2 demonstrated a homozygous point mutation, c.389C&gt;T (p.Thr130Met), in exon 6 of <jats:styled-content style=\"fixed-case\">ECM<\/jats:styled-content>1 and a heterozygous point mutation, c.917 A&gt;T (p.Asn306Ile), in exon 8 in <jats:styled-content style=\"fixed-case\">EVER<\/jats:styled-content>2, known to cause <jats:styled-content style=\"fixed-case\">EV<\/jats:styled-content> in homozygous patients. The homozygous point mutation c.389C&gt;T in <jats:styled-content style=\"fixed-case\">ECM<\/jats:styled-content>1 may be a novel mutation causing <jats:styled-content style=\"fixed-case\">LP<\/jats:styled-content>. Verruca plana\u2013like lesions seen in <jats:styled-content style=\"fixed-case\">LP<\/jats:styled-content> appear to represent a form of acquired <jats:styled-content style=\"fixed-case\">EV<\/jats:styled-content>. In this patient, a heterozygous mutation in <jats:styled-content style=\"fixed-case\">EVER<\/jats:styled-content>2 at c.917 A&gt;T may also have conferred susceptibility to <jats:styled-content style=\"fixed-case\">HPV<\/jats:styled-content> infection.<\/jats:p>","DOI":"10.1111\/pde.12124","type":"journal-article","created":{"date-parts":[[2013,3,28]],"date-time":"2013-03-28T10:07:57Z","timestamp":1364465277000},"page":"118-121","source":"Crossref","is-referenced-by-count":7,"title":["Epidermodysplasia Verruciformis in Lipoid Proteinosis: Case Report and Discussion of Pathophysiology"],"prefix":"10.1111","volume":"32","author":[{"given":"Catherine","family":"O'Blenes","sequence":"first","affiliation":[{"name":"Division of Clinical Dermatology and Cutaneous Science Halifax Nova Scotia Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sylvia","family":"Pasternak","sequence":"additional","affiliation":[{"name":"Department of Pathology Dalhousie University Halifax Nova Scotia Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrew","family":"Issekutz","sequence":"additional","affiliation":[{"name":"Division of Immunology Dalhousie University Halifax Nova Scotia Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jane","family":"Gillis","sequence":"additional","affiliation":[{"name":"Maritime Medical Genetics Services IWK Health Centre Halifax Nova Scotia Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dhiman","family":"Chowdhury","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Halifax Nova Scotia Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura","family":"Finlayson","sequence":"additional","affiliation":[{"name":"Division of Clinical Dermatology and Cutaneous Science Halifax Nova Scotia Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2013,3,28]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1523-1747.2003.12073.x"},{"key":"e_1_2_4_3_1","volume-title":"Weedon's skin pathology","author":"Weedon D","year":"2009"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0625.2007.00608.x"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2230.2002.01143.x"},{"key":"e_1_2_4_6_1","first-page":"75","article-title":"Lipoid proteinosis with dwarfism","volume":"28","author":"Chakrabarti K","year":"1991","journal-title":"Indian Pediatr"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.2340\/00015555-0292"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1346-8138.2005.tb00837.x"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1159\/000322536"},{"key":"e_1_2_4_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2008.08.035"},{"key":"e_1_2_4_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1525-1470.2008.00853.x"},{"key":"e_1_2_4_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2010.12.011"},{"key":"e_1_2_4_13_1","doi-asserted-by":"publisher","DOI":"10.1128\/JVI.77.24.13125-13135.2003"}],"container-title":["Pediatric Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fpde.12124","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pde.12124","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,1]],"date-time":"2023-10-01T20:53:01Z","timestamp":1696193581000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/pde.12124"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,3,28]]},"references-count":12,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2015,1]]}},"alternative-id":["10.1111\/pde.12124"],"URL":"https:\/\/doi.org\/10.1111\/pde.12124","archive":["Portico"],"relation":{},"ISSN":["0736-8046","1525-1470"],"issn-type":[{"value":"0736-8046","type":"print"},{"value":"1525-1470","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,3,28]]}}}