{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T12:23:08Z","timestamp":1791894188779,"version":"4.3.4"},"reference-count":15,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2018,2,2]],"date-time":"2018-02-02T00:00:00Z","timestamp":1517529600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100007688","name":"American University of Beirut","doi-asserted-by":"publisher","award":["MPP"],"award-info":[{"award-number":["MPP"]}],"id":[{"id":"10.13039\/100007688","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2018,3]]},"abstract":"<jats:sec><jats:label\/><jats:p>Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects (CHILD syndrome) is a rare X\u2010linked dominant genodermatosis caused by mutations in the NAD(P) dependent steroid dehydrogenase\u2010like protein gene. Its defect leads to accumulation of toxic metabolic intermediates upstream from the pathway block and to the deficiency of bulk cholesterol, probably leading to altered keratinocyte membrane function, resulting in the phenotype seen in CHILD syndrome. Symptomatic treatment using emollients and retinoids to reduce scaling has long been used until recently, whereby new therapeutic means based on the pathogenesis\u2010targeted therapy have been developed. We subsequently chose to use the same pathogenesis\u2010based therapy using a 2% cholesterol and 2% lovastatin cream with or without glycolic acid in two of our patients. Improvement in CHILD skin lesions was seen as early as 4 weeks after initiation. The addition of glycolic acid helped improve the penetrance of the cholesterol and lovastatin cream into the thick waxy scales. Our study confirms the efficacy of the pathogenesis\u2010targeted therapy and introduces the possibility of modifying its formula by adding glycolic acid in order to improve the treatment.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38619","type":"journal-article","created":{"date-parts":[[2018,2,2]],"date-time":"2018-02-02T05:42:36Z","timestamp":1517550156000},"page":"733-738","source":"Crossref","is-referenced-by-count":28,"title":["CHILD syndrome: A modified pathogenesis\u2010targeted therapeutic approach"],"prefix":"10.1002","volume":"176","author":[{"given":"Christina","family":"Bergqvist","sequence":"first","affiliation":[{"name":"Department of Dermatology American University of Beirut Beirut Lebanon"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bilal","family":"Abdallah","sequence":"additional","affiliation":[{"name":"Private Practice Chehim 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