{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,5]],"date-time":"2025-11-05T14:20:50Z","timestamp":1762352450206},"reference-count":30,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2015,10,13]],"date-time":"2015-10-13T00:00:00Z","timestamp":1444694400000},"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":[[2015,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Congenital hemidysplasia with ichthyosiform nevus and limb defects (<jats:styled-content style=\"fixed-case\">CHILD<\/jats:styled-content>) syndrome is an X\u2010linked autosomal dominant disorder characterized by unilateral congenital hemidysplasia with ichthyosiform erythroderma and ipsilateral limb defects caused by a mutation in the gene encoding <jats:styled-content style=\"fixed-case\">NAD<\/jats:styled-content>[P]H steroid dehydrogenase\u2010like protein (<jats:styled-content style=\"fixed-case\">NSDHL<\/jats:styled-content>) at Xq28. The histopathologic hallmark of skin lesions in <jats:styled-content style=\"fixed-case\">CHILD<\/jats:styled-content> syndrome is psoriasiform epidermis with hyperkeratosis and parakeratosis, and its most striking feature affecting the upper dermis is filling of the papillary dermis with foam cells. Here we present the case of a 9\u2010year\u2010old Chinese girl born with the typical clinical features of <jats:styled-content style=\"fixed-case\">CHILD<\/jats:styled-content> syndrome. Histologic and immunohistochemical evaluation of the skin lesions confirmed the diagnosis and led to identification of a heterozygous point mutation in exon 8 of the <jats:italic><jats:styled-content style=\"fixed-case\">NSDHL<\/jats:styled-content><\/jats:italic> gene. In addition, we provide a literature review of 26 unrelated <jats:styled-content style=\"fixed-case\">CHILD<\/jats:styled-content> syndrome patients from different countries, caused by 20 unique gene mutations occurring throughout the entire <jats:italic><jats:styled-content style=\"fixed-case\">NSDHL<\/jats:styled-content><\/jats:italic> gene, to promote understanding and provide a more comprehensive description of this unusual disorder.<\/jats:p>","DOI":"10.1111\/pde.12701","type":"journal-article","created":{"date-parts":[[2015,10,13]],"date-time":"2015-10-13T19:48:02Z","timestamp":1444765682000},"source":"Crossref","is-referenced-by-count":12,"title":["<scp>CHILD<\/scp> Syndrome: Case Report of a Chinese Patient and Literature Review of the <scp>NAD<\/scp>[P]H Steroid Dehydrogenase\u2010Like Protein Gene Mutation"],"prefix":"10.1111","volume":"32","author":[{"given":"Xiang\u2010bin","family":"Mi","sequence":"first","affiliation":[{"name":"Department of Dermatology Zhujiang Hospital of Southern Medical University Guangzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Miao\u2010xuan","family":"Luo","sequence":"additional","affiliation":[{"name":"Department of Dermatology Zhujiang Hospital of Southern Medical University Guangzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lin\u2010lang","family":"Guo","sequence":"additional","affiliation":[{"name":"Department of Pathology Zhujiang Hospital of Southern Medical University Guangzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tang\u2010de","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Dermatology Zhujiang Hospital of Southern Medical University Guangzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xian\u2010wen","family":"Qiu","sequence":"additional","affiliation":[{"name":"Department of Dermatology Zhujiang Hospital of Southern Medical University Guangzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2015,10,13]]},"reference":[{"key":"e_1_2_3_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1468-3083.2006.02015.x"},{"key":"e_1_2_3_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbalip.2013.09.006"},{"key":"e_1_2_3_4_1","first-page":"651","article-title":"One case of CHILD syndrome","volume":"42","author":"Zhang Y\u2010G","year":"2009","journal-title":"Chin J Dermatol"},{"key":"e_1_2_3_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0190-9622(03)01827-9"},{"key":"e_1_2_3_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1525-1470.2010.01276.x"},{"key":"e_1_2_3_7_1","first-page":"232","article-title":"Brain and cerebellar hemidysplasia in a case with ipsilateral body dysplasia and suspicion of CHILD syndrome","volume":"46","author":"Schmidt\u2010Sidor B","year":"2008","journal-title":"Folia Neuropathol"},{"key":"e_1_2_3_8_1","doi-asserted-by":"crossref","first-page":"6","DOI":"10.5070\/D31PV2R2NH","article-title":"CHILD syndrome with thrombocytosis and congenital dislocation of hip: a case report from India","volume":"16","author":"Chander R","year":"2010","journal-title":"Dermatol Online J"},{"key":"e_1_2_3_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/jclinpath-2013-201770"},{"key":"e_1_2_3_10_1","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.142.3.348"},{"key":"e_1_2_3_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1468-3083.2009.03483.x"},{"key":"e_1_2_3_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.0303-6987.2006.00470.x"},{"key":"e_1_2_3_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20248"},{"key":"e_1_2_3_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/1523-1747.ep12499852"},{"key":"e_1_2_3_15_1","doi-asserted-by":"publisher","DOI":"10.1159\/000086448"},{"key":"e_1_2_3_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(20000214)90:4<339::AID-AJMG15>3.0.CO;2-5"},{"key":"e_1_2_3_17_1","first-page":"48","volume-title":"Clinical dermatology: the CMD case collection","author":"Lambert D","year":"1987"},{"key":"e_1_2_3_18_1","first-page":"590","article-title":"CHILD syndrome. Case report of a rare genetic dermatosis","volume":"44","author":"Peter C","year":"1993","journal-title":"Hautarzt"},{"key":"e_1_2_3_19_1","first-page":"4S92","article-title":"Inactivation non\u2010aleatoire du chromosome X dans le syndrome CHILD","volume":"127","author":"Vabres P","year":"2000","journal-title":"Ann Dermatol Venereol"},{"key":"e_1_2_3_20_1","first-page":"443","article-title":"Inflammatory variable epidermal nevus (atypical I.L.V.E.N.?). 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