PLACK syndrome is potentially treatable with intralipids.
Clin Genet
; 99(4): 572-576, 2021 04.
Article
em En
| MEDLINE
| ID: mdl-33410500
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.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Fosfolipídeos
/
Dermatopatias Genéticas
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Óleo de Soja
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Hipopigmentação
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Dermatite Esfoliativa
/
Doenças da Unha
Tipo de estudo:
Etiology_studies
Limite:
Child
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Female
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Humans
Idioma:
En
Revista:
Clin Genet
Ano de publicação:
2021
Tipo de documento:
Article