Michela De Lucia1,2, Anina Bauer3,4, Melina Spycher3,4, Vidhya Jagannathan3,4, Erica Romano5, Monika Welle4,6, Tosso Leeb3,4. 1. San Marco Veterinary Clinic, Via Sorio 114/C, 35141, Padova, Italy. 2. San Marco Veterinary Laboratory, Via Sorio 114/C, 35141, Padova, Italy. 3. Institute of Genetics, Vetsuisse Faculty, University of Bern, Länggassstrasse 120, 3001, Bern, Switzerland. 4. Dermfocus, Vetsuisse Faculty, University of Bern, 3001, Bern, Switzerland. 5. Veterinary Hospital Gregorio VII, Piazza di Villa Carpegna 52, 00165, Rome, Italy. 6. Institute of Animal Pathology, Vetsuisse Faculty, University of Bern, 3001, Bern, Switzerland.
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.
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.
Authors: Isabel Hernandez; Jessica J Hayward; Jeff A Brockman; Michelle E White; Lara Mouttham; Elizabeth A Wilcox; Susan Garrison; Marta G Castelhano; John P Loftus; Filipe Espinheira Gomes; Cheryl Balkman; Marjory B Brooks; Nadine Fiani; Marnin Forman; Tom Kern; Bruce Kornreich; Eric C Ledbetter; Santiago Peralta; Angela M Struble; Lisa Caligiuri; Elizabeth Corey; Lin Lin; Julie Jordan; Danny Sack; Adam R Boyko; Leslie A Lyons; Rory J Todhunter Journal: Front Vet Sci Date: 2022-06-16