Genetic variant in the NSDHL gene in a cat with multiple congenital lesions resembling inflammatory linear verrucous epidermal nevi

Vet Dermatol. 2019 Feb;30(1):64-e18. doi: 10.1111/vde.12699. Epub 2018 Nov 25.


Background: The feline counterpart of human inflammatory linear verrucous epidermal nevus (ILVEN) has been described; however, the possible underlying developmental defect has not been investigated.

Objective: To report a case of multiple ILVEN-like lesions in a cat with a genetic variant in the NSDHL gene.

Animals: A 2-year-old, female, domestic short hair cat with a history of multiple alopecic, verrucous, hyperpigmented and erythematous skin lesions, following Blaschko's lines on the head, the limbs, the trunk and paw pads.

Methods and results: According to the clinical and histopathological findings, a diagnosis of multiple ILVEN-like lesions was made. Genetic investigation revealed a heterozygous missense variant in the X-chromosomal NSDHL gene predicted to lead to a loss-of-function of the NSDHL protein.

Conclusions and clinical importance: To the best of the authors' knowledge, this is the first case of feline ILVEN-like lesions in which a genetic cause has been proposed. Future studies to establish a causal relationship between NSDHL variants and skin lesions might lead to pathogenesis-directed treatments.

Publication types

  • Case Reports

MeSH terms

  • 3-Hydroxysteroid Dehydrogenases / genetics*
  • Animals
  • Cat Diseases / congenital
  • Cat Diseases / genetics*
  • Cat Diseases / pathology
  • Cats
  • Female
  • Genes / genetics
  • Heterozygote
  • Mutation, Missense / genetics
  • Nevus / congenital
  • Nevus / genetics
  • Nevus / pathology
  • Nevus / veterinary*
  • Skin / pathology
  • Skin Neoplasms / congenital
  • Skin Neoplasms / genetics
  • Skin Neoplasms / pathology
  • Skin Neoplasms / veterinary*


  • 3-Hydroxysteroid Dehydrogenases

Associated data

  • GENBANK/XM_004000985
  • GENBANK/XP_004001034