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

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

Journal

Veterinary dermatology
ISSN: 1365-3164
Titre abrégé: Vet Dermatol
Pays: England
ID NLM: 9426187

Informations de publication

Date de publication:
Feb 2019
Historique:
accepted: 13 10 2018
pubmed: 27 11 2018
medline: 25 1 2019
entrez: 27 11 2018
Statut: ppublish

Résumé

The feline counterpart of human inflammatory linear verrucous epidermal nevus (ILVEN) has been described; however, the possible underlying developmental defect has not been investigated. To report a case of multiple ILVEN-like lesions in a cat with a genetic variant in the NSDHL gene. 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. 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. 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.

Sections du résumé

BACKGROUND 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 OBJECTIVE
To report a case of multiple ILVEN-like lesions in a cat with a genetic variant in the NSDHL gene.
ANIMALS METHODS
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 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 CONCLUSIONS
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.

Identifiants

DOI: 10.1111/vde.12699 PMID: 30474267
pubmed: 30474267
doi: 10.1111/vde.12699
doi:

Substances chimiques

3-Hydroxysteroid Dehydrogenases EC 1.1.-

Banques de données

GENBANK
['XM_004000985', 'XP_004001034']

Types de publication

Case Reports

Langues

eng

Sous-ensembles de citation

IM

Pagination

64-e18

Subventions

Organisme : Swiss National Science Foundation
ID : CRSII3_160738

Informations de copyright

© 2018 ESVD and ACVD.

Auteurs

Michela De Lucia (M)

San Marco Veterinary Clinic, Via Sorio 114/C, 35141, Padova, Italy.
San Marco Veterinary Laboratory, Via Sorio 114/C, 35141, Padova, Italy.

Anina Bauer (A)

Institute of Genetics, Vetsuisse Faculty, University of Bern, Länggassstrasse 120, 3001, Bern, Switzerland.
Dermfocus, Vetsuisse Faculty, University of Bern, 3001, Bern, Switzerland.

Melina Spycher (M)

Institute of Genetics, Vetsuisse Faculty, University of Bern, Länggassstrasse 120, 3001, Bern, Switzerland.
Dermfocus, Vetsuisse Faculty, University of Bern, 3001, Bern, Switzerland.

Vidhya Jagannathan (V)

Institute of Genetics, Vetsuisse Faculty, University of Bern, Länggassstrasse 120, 3001, Bern, Switzerland.
Dermfocus, Vetsuisse Faculty, University of Bern, 3001, Bern, Switzerland.

Erica Romano (E)

Veterinary Hospital Gregorio VII, Piazza di Villa Carpegna 52, 00165, Rome, Italy.

Monika Welle (M)

Dermfocus, Vetsuisse Faculty, University of Bern, 3001, Bern, Switzerland.
Institute of Animal Pathology, Vetsuisse Faculty, University of Bern, 3001, Bern, Switzerland.

Tosso Leeb (T)

Institute of Genetics, Vetsuisse Faculty, University of Bern, Länggassstrasse 120, 3001, Bern, Switzerland.
Dermfocus, Vetsuisse Faculty, University of Bern, 3001, Bern, Switzerland.

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Classifications MeSH

questionsmedicales.fr › Enzymes et coenzymes › Enzymes › Oxidoreductases › Alcohol oxidoreductases › Hydroxysteroid dehydrogenases › 3-Hydroxysteroid dehydrogenases › Genetic variant in the NSDHL gene in a cat...
questionsmedicales.fr › Eucaryotes › Animaux › Genetic variant in the NSDHL gene in a cat...
questionsmedicales.fr › Maladies de l'animal › Maladies des chats › Genetic variant in the NSDHL gene in a cat...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Carnivora › Feliformia › Felidae › Felis › Chats › Genetic variant in the NSDHL gene in a cat...
questionsmedicales.fr › Phénomènes génétiques › Structures génétiques › Génome › Composants de génome › Gènes › Genetic variant in the NSDHL gene in a cat...
questionsmedicales.fr › Phénomènes génétiques › Génotype › Hétérozygote › Genetic variant in the NSDHL gene in a cat...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Mutation faux-sens › Genetic variant in the NSDHL gene in a cat...
questionsmedicales.fr › Tumeurs › Tumeurs par type histologique › Naevus et mélanomes › Naevus › Genetic variant in the NSDHL gene in a cat...
questionsmedicales.fr › Système tégumentaire › Peau › Genetic variant in the NSDHL gene in a cat...
questionsmedicales.fr › Maladies de la peau et du tissu conjonctif › Maladies de la peau › Tumeurs cutanées › Genetic variant in the NSDHL gene in a cat...