Peer-reviewed veterinary case report
Cat with multiple birthmark-like skin lesions linked to NSDHL gene
By De Lucia, Michela et al.·Published in Veterinary dermatology·2019·San Marco Veterinary Clinic, Italy·View original on PubMed →
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Original publication title: Genetic variant in the NSDHL gene in a cat with multiple congenital lesions resembling inflammatory linear verrucous epidermal nevi.
- Species:
- cat
Plain-English summary
A 2-year-old female domestic short hair cat was brought in for multiple skin lesions that were hairless, raised, darkened, and red, following specific patterns on her body. After examining her skin and conducting tests, the vet diagnosed her with multiple lesions similar to a human skin condition called inflammatory linear verrucous epidermal nevus (ILVEN). Genetic testing revealed a variant in a gene that likely caused these skin issues. While this case is unique, it suggests that future treatments could be developed based on the genetic cause of these lesions.
People also search for: cat skin lesions treatment · cat inflammatory skin condition · genetic skin problems in cats
Abstract
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.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/30474267/