Genetic variant in the NSDHL gene in a cat with multiple congenital lesions resembling inflammatory linear verrucous epidermal nevi
| Autor: | Vidya Jagannathan, Erica Romano, Michela De Lucia, Anina Bauer, Tosso Leeb, Melina Spycher, Monika Maria Welle |
|---|---|
| Rok vydání: | 2018 |
| Předmět: |
Mutation
Pathology medicine.medical_specialty General Veterinary 040301 veterinary sciences business.industry Domestic Short Hair Cat Heterozygote advantage 04 agricultural and veterinary sciences medicine.disease medicine.disease_cause 3. Good health 0403 veterinary science 030207 dermatology & venereal diseases 03 medical and health sciences 0302 clinical medicine NSDHL gene Inflammatory linear verrucous epidermal nevus medicine Nevus Missense mutation business Gene |
| Zdroj: | Veterinary Dermatology. 30:64-e18 |
| ISSN: | 0959-4493 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Plný text