Severe congenital ichthyosiform dermatosis in CHIME syndrome successfully treated with ixekizumab

Pediatr Dermatol. 2024 Nov-Dec;41(6):1166-1169. doi: 10.1111/pde.15648. Epub 2024 May 21.

Abstract

Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability, conductive hearing loss, and epilepsy (CHIME) syndrome is a rare autosomal recessive neuroectodermal disorder caused by PIGL gene mutations. There is emerging literature to support the use of interleukin-17 (IL-17) antagonists in the treatment of certain ichthyosiform dermatoses. Here, we report a case of severe ichthyosiform dermatosis in a child with CHIME syndrome who was recalcitrant to multiple topical medications and dupilumab. This is the first reported case of successful treatment of congenital ichthyosiform dermatosis in a CHIME syndrome patient with ixekizumab, an IL-17A antagonist.

Keywords: CHIME syndrome; IL‐17 antagonist; congenital ichthyosis; dupilumab; ichthyosiform dermatosis; ixekizumab.

Publication types

  • Case Reports

MeSH terms

  • Antibodies, Monoclonal, Humanized* / therapeutic use
  • Dermatologic Agents / therapeutic use
  • Female
  • Heart Defects, Congenital / complications
  • Heart Defects, Congenital / drug therapy
  • Humans
  • Ichthyosiform Erythroderma, Congenital / complications
  • Ichthyosiform Erythroderma, Congenital / drug therapy
  • Ichthyosiform Erythroderma, Congenital / genetics
  • Intellectual Disability / complications
  • Intellectual Disability / drug therapy
  • Interleukin-17 / antagonists & inhibitors
  • Male

Substances

  • Antibodies, Monoclonal, Humanized
  • ixekizumab
  • Dermatologic Agents
  • Interleukin-17