De Lucia Michela, Bauer Anina, Spycher Melina, Jagannathan Vidhya, Romano Erica, Welle Monika, Leeb Tosso
San Marco Veterinary Clinic, Via Sorio 114/C, 35141, Padova, Italy.
San Marco Veterinary Laboratory, Via Sorio 114/C, 35141, Padova, Italy.
Vet Dermatol. 2019 Feb;30(1):64-e18. doi: 10.1111/vde.12699. Epub 2018 Nov 25.
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.
人类炎症性线状疣状表皮痣（ILVEN）的猫科对应物已被描述；然而，其潜在的发育缺陷尚未得到研究。
报告一例患有NSDHL基因变异的猫出现多个ILVEN样病变的病例。
一只2岁的雌性家养短毛猫，有多个脱发、疣状、色素沉着和红斑性皮肤病变的病史，病变沿头部、四肢、躯干和爪垫的布拉斯科线分布。
根据临床和组织病理学检查结果，诊断为多个ILVEN样病变。基因检测发现X染色体NSDHL基因存在杂合错义变异，预计会导致NSDHL蛋白功能丧失。
据作者所知，这是首例提出遗传病因的猫科ILVEN样病变病例。未来关于NSDHL变异与皮肤病变之间因果关系的研究可能会带来针对发病机制的治疗方法。
