{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,11]],"date-time":"2026-09-11T15:34:43Z","timestamp":1789140883097,"version":"build-2803163510"},"reference-count":10,"publisher":"BMJ","issue":"11","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2020,9,21]]},"published-print":{"date-parts":[[2020,11]]},"abstract":"<jats:p>We report a case of a 1-year and 2-month-old girl with clinical features consistent with congenital hemidysplasia with ichthyosis and limb defects syndrome. Sterol analysis from skin flakes revealed increased levels of a mono 4-alpha methyl sterol also seen in plasma as well as the presence of 4-alpha-carboxy-4-methyl-cholest-8(9)-en-3beta-ol and several keto-sterols, which are usually below the limit of detection. This sterol pattern is consistent with abnormal function of the 4-alpha-methylsterol-4-demethylase complex. <jats:italic>NSDHL<\/jats:italic> gene testing revealed the presence of a variant of uncertain significance, c.130G&gt;A (p.Gly44Ser). This missense mutation currently is not included in population databases (ExAC no frequency) and has not been reported in individuals with an <jats:italic>NSDHL<\/jats:italic>-related condition. Parental studies showed that neither parent carries the <jats:italic>NSDHL<\/jats:italic> variant. On this basis, this variant has been reclassified as likely pathogenic. Symptomatic treatment with keratolytic agents, emollients and ketoconazole was initiated.<\/jats:p>","DOI":"10.1136\/bcr-2020-236859","type":"journal-article","created":{"date-parts":[[2020,11,2]],"date-time":"2020-11-02T16:05:28Z","timestamp":1604333128000},"page":"e236859","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":5,"title":["Novel <i>NSDHL<\/i> gene variant for congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) syndrome"],"prefix":"10.1136","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5414-7030","authenticated-orcid":false,"given":"Ebner Bon Gatus","family":"Maceda","sequence":"first","affiliation":[{"name":"Division of Clinical Genetics, Department of Pediatrics, Philippine General Hospital, University of the Philippines Manila, Manila, Philippines"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisa E","family":"Kratz","sequence":"additional","affiliation":[{"name":"Biochemical Genetics Laboratory, Kennedy Krieger Institute, Baltimore, Maryland, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Veronica Marie E","family":"Ramos","sequence":"additional","affiliation":[{"name":"Dermatology, University of the Philippines Manila, Manila, Philippines"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mary Ann R","family":"Abacan","sequence":"additional","affiliation":[{"name":"Division of Clinical Genetics, Department of Pediatrics, Philippine General Hospital, University of the Philippines Manila, Manila, Philippines"},{"name":"Institute of Human Genetics, National Institutes of Health, University of the Philippines Manila, Manila, Philippines"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2020,11,2]]},"reference":[{"key":"2025082710521890000_13.11.e236859.1","doi-asserted-by":"crossref","first-page":"75R","DOI":"10.1093\/hmg\/ddg072","article-title":"Disorders of cholesterol biosynthesis: prototypic metabolic malformation syndromes","volume":"12 Spec No 1","author":"Herman","year":"2003","journal-title":"Hum Mol Genet"},{"key":"2025082710521890000_13.11.e236859.2","doi-asserted-by":"publisher","DOI":"10.1194\/jlr.R009548"},{"key":"2025082710521890000_13.11.e236859.3","doi-asserted-by":"publisher","DOI":"10.1172\/JCI200216386"},{"key":"2025082710521890000_13.11.e236859.4","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.024448"},{"key":"2025082710521890000_13.11.e236859.5","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(20000214)90:4<328::AID-AJMG13>3.0.CO;2-F"},{"key":"2025082710521890000_13.11.e236859.6","unstructured":"Bajawi SM , Jafarri SA , Buraik MA , et al . Pathgenesis-based therapy: cutaneous abnormalities of child syndrome successfully treated with topical simvastatin monotherapy."},{"key":"2025082710521890000_13.11.e236859.7","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1016\/j.bbalip.2013.09.006","article-title":"The role of abnormalities in the distal pathway of cholesterol synthesis in the congenital Hemidysplasia with ichthyosiform erythroderma and limb defects (child) syndrome","volume":"1841","author":"Seeger","year":"2014","journal-title":"Biochim Biophys Acta"},{"key":"2025082710521890000_13.11.e236859.8","doi-asserted-by":"crossref","unstructured":"Asch S , Sugarman J . Epidermal nevus syndromes. Handbook of clinical neurology. Neurocutaneous Syndromes 2015;132.","DOI":"10.1016\/B978-0-444-62702-5.00022-6"},{"key":"2025082710521890000_13.11.e236859.9","doi-asserted-by":"crossref","first-page":"1007","DOI":"10.2340\/00015555-2143","article-title":"Large deletions in the Nsdhl gene in two patients with child syndrome","volume":"95","author":"Yang","year":"2015","journal-title":"Acta Derm Venereol"},{"key":"2025082710521890000_13.11.e236859.10","doi-asserted-by":"crossref","first-page":"91","DOI":"10.2340\/00015555-1859","article-title":"Child syndrome: effective treatment of ichthyosiform naevus with oral and topical ketoconazole","volume":"95","author":"Liu","year":"2015","journal-title":"Acta Derm Venereol"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2020-236859","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T17:52:23Z","timestamp":1756317143000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2020-236859"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,11]]},"references-count":10,"journal-issue":{"issue":"11","published-online":{"date-parts":[[2020,11,2]]},"published-print":{"date-parts":[[2020,11]]}},"alternative-id":["10.1136\/bcr-2020-236859"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2020-236859","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,11]]}}}