PLACK syndrome is potentially treatable with intralipids
| Autor: | Yousef Binamer, Zinab A. Sawan, Khalid Alsaleem, Ali Al-Mehaidib, Mohammed Abanemai, Dorota Monies, Wajeeh Aldekhail, Fowzan S. Alkuraya |
|---|---|
| Rok vydání: | 2020 |
| Předmět: |
0301 basic medicine
medicine.medical_specialty 030105 genetics & heredity Knuckle pads 03 medical and health sciences Consanguinity Nail Diseases Blister Genetics medicine Humans Child Infusions Intravenous Objective response Genetics (clinical) Phospholipids Punctate keratosis Hypopigmentation business.industry Pruritus Calcium-Binding Proteins Remission Induction Genodermatosis Skin Diseases Genetic Keratosis Syndrome medicine.disease Dermatology Pedigree Soybean Oil Vitamin A deficiency Peeling skin syndrome 030104 developmental biology Treatment Outcome Cheilitis Leukonychia Emulsions Female Lipid infusion business Dermatitis Exfoliative |
| Zdroj: | Clinical geneticsREFERENCES. 99(4) |
| ISSN: | 1399-0004 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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