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

De Lucia, Michela; Bauer, Anina; Spycher, Melina; Jagannathan, Vidya; Romano, Erica; Welle, Monika Maria; Leeb, Tosso (2019). Genetic variant in the NSDHL gene in a cat with multiple congenital lesions resembling inflammatory linear verrucous epidermal nevi. Veterinary dermatology, 30(1), 64-e18. Blackwell Science 10.1111/vde.12699

Text Lucia_et_al-2019-Veterinary_Dermatology.pdf - Published Version Restricted to registered users only Available under License Publisher holds Copyright. Download (869kB)

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.

Interest & Impact

Downloads

4 since deposited on 31 May 2019
0 in the past 12 months

Citations

5 Citations in Web of Science ®
6 Citations in Scopus

Search

in Google Scholar™

Services

Actions (login required)

Edit item

Actions (login required)

Edit item