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

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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.

Item Type:

Journal Article (Further Contribution)

Division/Institute:

05 Veterinary Medicine > Department of Clinical Research and Veterinary Public Health (DCR-VPH) > Institute of Genetics
05 Veterinary Medicine > Research Foci > DermFocus
05 Veterinary Medicine > Department of Infectious Diseases and Pathobiology (DIP) > Institute of Animal Pathology
05 Veterinary Medicine > Department of Clinical Research and Veterinary Public Health (DCR-VPH)

UniBE Contributor:

Bauer, Anina; Jagannathan, Vidya; Welle, Monika Maria and Leeb, Tosso

Subjects:

500 Science > 590 Animals (Zoology)
600 Technology > 630 Agriculture
500 Science > 570 Life sciences; biology

ISSN:

0959-4493

Publisher:

Blackwell Science

Language:

English

Submitter:

Achim Braun Parham

Date Deposited:

31 May 2019 13:15

Last Modified:

31 May 2019 13:24

Publisher DOI:

10.1111/vde.12699

PubMed ID:

30474267

BORIS DOI:

10.7892/boris.127542

URI:

https://boris.unibe.ch/id/eprint/127542

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