Evaluation of neurodevelopmental symptoms in 10 cases of neonatal ichthyosis and sclerosing cholangitis syndrome

Pediatr Dermatol. 2022 Jul;39(4):590-593. doi: 10.1111/pde.14976. Epub 2022 Mar 18.

Abstract

Neonatal ichthyosis and sclerosing cholangitis (NISCH) syndrome is an extremely rare entity with only 19 patients described in the literature. We report an extended family with the disorder and investigate the association of neurodevelopmental symptoms. Patients with CLDN1 mutations, and specifically « the Moroccan» c.200_201delTT deletion, may be an increased risk for neurodevelopmental symptoms such as learning disabilities, mental retardation, and language delay.

Keywords: CLDN1; NISCH syndrome; ichthyosis; neurodevelopmental; sclerosing cholangitis.

Publication types

  • Case Reports

MeSH terms

  • Alopecia
  • Cholangitis, Sclerosing* / complications
  • Cholangitis, Sclerosing* / diagnosis
  • Cholangitis, Sclerosing* / genetics
  • Claudin-1 / deficiency
  • Claudin-1 / genetics
  • Humans
  • Ichthyosis* / complications
  • Ichthyosis* / diagnosis
  • Ichthyosis* / genetics
  • Ichthyosis, Lamellar* / complications
  • Infant, Newborn
  • Leukocyte Disorders* / complications
  • Leukocyte Disorders* / genetics
  • Syndrome

Substances

  • Claudin-1

Supplementary concepts

  • Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis