PLACK syndrome is potentially treatable with intralipids

Clin Genet. 2021 Apr;99(4):572-576. doi: 10.1111/cge.13919. Epub 2021 Jan 20.


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.

Keywords: CAST; PLACK syndrome; essential fatty acid; intravenous lipid emulsion; loss of function; peeling skin syndrome; vitamin a deficiency.

Publication types

  • Case Reports

MeSH terms

  • Blister / etiology
  • Calcium-Binding Proteins / genetics
  • Cheilitis / drug therapy
  • Cheilitis / genetics
  • Child
  • Consanguinity
  • Dermatitis, Exfoliative / drug therapy*
  • Dermatitis, Exfoliative / genetics
  • Emulsions / administration & dosage
  • Emulsions / therapeutic use
  • Female
  • Humans
  • Hypopigmentation / drug therapy*
  • Hypopigmentation / genetics
  • Infusions, Intravenous
  • Keratosis / drug therapy
  • Keratosis / genetics
  • Nail Diseases / congenital*
  • Nail Diseases / drug therapy
  • Nail Diseases / genetics
  • Pedigree
  • Phospholipids / administration & dosage
  • Phospholipids / therapeutic use*
  • Pruritus / drug therapy
  • Pruritus / genetics
  • Remission Induction
  • Skin Diseases, Genetic / drug therapy*
  • Skin Diseases, Genetic / genetics
  • Soybean Oil / administration & dosage
  • Soybean Oil / therapeutic use*
  • Syndrome
  • Treatment Outcome


  • CAST protein, human
  • Calcium-Binding Proteins
  • Emulsions
  • Phospholipids
  • soybean oil, phospholipid emulsion
  • Soybean Oil

Supplementary concepts

  • Leukonychia totalis
  • Peeling Skin Syndrome