{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,11]],"date-time":"2026-09-11T15:35:32Z","timestamp":1789140932117,"version":"build-2803163510"},"reference-count":20,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2018,2,1]],"date-time":"2018-02-01T00:00:00Z","timestamp":1517443200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81472867"],"award-info":[{"award-number":["81472867"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003395","name":"Shanghai Municipal Education Commission","doi-asserted-by":"publisher","award":["20161417"],"award-info":[{"award-number":["20161417"]}],"id":[{"id":"10.13039\/501100003395","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Acad Dermatol Venereol"],"published-print":{"date-parts":[[2018,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (<jats:styled-content style=\"fixed-case\">CHILD<\/jats:styled-content>) syndrome is a rare X\u2010linked dominant disorder characterized by peculiar cutaneous presentations and ipsilateral skeletal abnormalities. <jats:styled-content style=\"fixed-case\">CHILD<\/jats:styled-content> syndrome is caused by mutations in <jats:italic><jats:styled-content style=\"fixed-case\">NSDHL<\/jats:styled-content><\/jats:italic> gene, which involves in cholesterol synthesis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Objectives<\/jats:title><jats:p>To verify the diagnosis of <jats:styled-content style=\"fixed-case\">CHILD<\/jats:styled-content> syndrome and seek effective pathogenesis\u2010based therapy with little side\u2010effects.<\/jats:p><\/jats:sec><jats:sec><jats:title>Method<\/jats:title><jats:p>We comprehensively evaluated the patient's conditions. Pathological biopsy was performed in the lesion location. Genetic tests and real\u2010time quantitative <jats:styled-content style=\"fixed-case\">PCR<\/jats:styled-content> were conducted to further confirm the diagnosis. The topical application of a mixed lotion containing 2% simvastatin and 2% cholesterol to lesion areas based on the pathogenesis as well as the literature review.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We diagnosed a rare and typical case of <jats:styled-content style=\"fixed-case\">CHILD<\/jats:styled-content> syndrome co\u2010occurring with multiple <jats:styled-content style=\"fixed-case\">VX<\/jats:styled-content>\u2010like lesions. The gene mutation is a large deletion of exon 3 and 4 of the <jats:italic><jats:styled-content style=\"fixed-case\">NSDHL<\/jats:styled-content><\/jats:italic> gene, which was discovered and reported for the first time in <jats:styled-content style=\"fixed-case\">CHILD<\/jats:styled-content> syndrome. The skin lesions, including the verruciform plaques and <jats:styled-content style=\"fixed-case\">VX<\/jats:styled-content>\u2010like lesions, improved obviously after treatment.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Multiple exons deletions or microdeletion was not rare in <jats:styled-content style=\"fixed-case\">CHILD<\/jats:styled-content> syndrome. Classical Sanger sequencing may not be useful enough to find all kinds of mutations. Next\u2010generation sequencing may be more effective. It is important to conduct genetic counselling to prevent more serious defects in descendants. The excellent therapeutic effect on <jats:styled-content style=\"fixed-case\">CHILD<\/jats:styled-content> syndrome resulted from the topical treatment with simvastatin\/cholesterol provides a proof\u2010of\u2010concept for other topical pathogenesis\u2010based therapies for skin disease.<\/jats:p><\/jats:sec>","DOI":"10.1111\/jdv.14788","type":"journal-article","created":{"date-parts":[[2018,1,17]],"date-time":"2018-01-17T07:15:49Z","timestamp":1516173349000},"page":"1209-1213","source":"Crossref","is-referenced-by-count":19,"title":["<scp>CHILD<\/scp> syndrome mimicking verrucous nevus in a Chinese patient responded well to the topical therapy of compound of simvastatin and cholesterol"],"prefix":"10.1111","volume":"32","author":[{"given":"X.","family":"Yu","sequence":"first","affiliation":[{"name":"Department of Dermatology Xinhua Hospital Shanghai Jiaotong University School of Medicine Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Dermatology Xinhua Hospital Shanghai Jiaotong University School of Medicine Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Y.","family":"Gu","sequence":"additional","affiliation":[{"name":"Department of Dermatology Xinhua Hospital Shanghai Jiaotong University School of Medicine Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"Deng","sequence":"additional","affiliation":[{"name":"Department of Dermatology Xinhua Hospital Shanghai Jiaotong University School of Medicine Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Z.","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Dermatology Shanghai First People<sup>'<\/sup>s Hospital Shanghai Jiaotong University of Medicine Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Bao","sequence":"additional","affiliation":[{"name":"Department of Radiology Xinhua Hospital Shanghai Jiaotong University School of Medicine Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Dermatology Xinhua Hospital Shanghai Jiaotong University School of Medicine Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Z.","family":"Yao","sequence":"additional","affiliation":[{"name":"Department of Dermatology Xinhua Hospital Shanghai Jiaotong University School of Medicine Shanghai 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