Abstract:
:We describe an 11-year-old girl with PLACK Syndrome (peeling skin, leukonychia, acral punctate keratosis, cheilitis, and knuckle pads), who was found to have a novel homozygous variant in CAST, the pathogenicity of which was confirmed using blood-derived RNA. There is no established treatment for PLACK syndrome. However, we demonstrate for the first time that this condition is associated with low levels of vitamin A and essential fatty acids, which prompted us to consider a potential treatment strategy. Indeed, we initiated this patient on intravenous lipid infusion (Vitalipid®; an emulsion of fat-soluble vitamins and lipofundin-MCT/LCT 20%) and the response was dramatic. Following the fourth monthly course of treatment, pruritis disappeared and the skin lesions showed remarkable objective improvement. PLACK syndrome is a very rare genodermatosis and only six families have been described to date with pathogenic CAST variants. This is the first report of an objective response to a therapeutic agent, which suggests that PLACK is a potentially treatable condition. The remarkable response we report and the relative safety of the intervention should prompt healthcare providers who care for PLACK syndrome patients to explore this as a potential treatment strategy in future studies.
journal_name
Clin Genetjournal_title
Clinical geneticsauthors
Sawan ZA,Almehaidib A,Binamer Y,Monies D,Alsaleem KA,Aldekhail W,Alkuraya FS,Abanemai Mdoi
10.1111/cge.13919subject
Has Abstractpub_date
2021-01-07 00:00:00eissn
0009-9163issn
1399-0004pub_type
杂志文章abstract::An unusual variant of chromosome 6 was shown to be a dic(6) by use of the chromosome specific alphoid probe, p308. The use of biotinylated repeat probes provides a rapid procedure for the resolution of some cytogenetic abnormalities. ...
journal_title:Clinical genetics
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abstract:BACKGROUND:Array-comparative genomic hybridization (array-CGH) is a widely used technique to detect copy number variants (CNVs) associated with developmental delay/intellectual disability (DD/ID). AIMS:Identification of genomic disorders in DD/ID. MATERIALS AND METHODS:We performed a comprehensive array-CGH investiga...
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pub_type: 杂志文章,评审
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更新日期:2020-01-01 00:00:00
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journal_title:Clinical genetics
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更新日期:2013-01-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
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更新日期:2018-03-01 00:00:00
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更新日期:2014-01-01 00:00:00
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更新日期:2013-04-01 00:00:00
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pub_type: 杂志文章
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更新日期:2009-07-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:
更新日期:1977-10-01 00:00:00
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journal_title:Clinical genetics
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更新日期:1980-08-01 00:00:00
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更新日期:2014-11-01 00:00:00
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更新日期:2010-08-01 00:00:00