Dental Abnormalities in Congenital Ichthyoses: Case Report and Review of the Literature

Pediatr Dermatol. 2025 Mar-Apr;42(2):305-310. doi: 10.1111/pde.15841. Epub 2024 Dec 10.

Abstract

We describe a 1-day old female with features of keratitis-ichthyosis-deafness (KID) syndrome and natal teeth. Genetic analysis confirmed GJB2 263C and A88V de novo pathogenic variants consistent with KID syndrome. Natal teeth were promptly extracted to avoid the risk of aspiration. This review describes subsets of ichthyoses that have been reported in association with dental anomalies, highlighting the need for early dental referral and importance of long-term follow-up.

Keywords: congenital; ectodermal dysplasia; hereditary; ichthyosis; natal teeth; neonatal diseases and abnormalities; tooth abnormalities.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Connexin 26 / genetics
  • Connexins / genetics
  • Deafness
  • Female
  • Humans
  • Ichthyosis* / complications
  • Ichthyosis* / genetics
  • Infant, Newborn
  • Keratitis* / complications
  • Keratitis* / diagnosis
  • Keratitis* / genetics
  • Natal Teeth* / abnormalities
  • Natal Teeth* / surgery
  • Tooth Abnormalities* / etiology
  • Tooth Abnormalities* / genetics

Substances

  • Connexin 26
  • GJB2 protein, human
  • Connexins

Supplementary concepts

  • Keratitis-Ichthyosis-Deafness Syndrome
  • Keratitis, Ichthyosis, and Deafness (KID) Syndrome