Badial Peres R, Oliveira-Filho José P, Pantoja José Carlos F, Moreira José C L, Conceição Lissandro G, Borges Alexandre S
Department of Veterinary Clinical Science, School of Veterinary Medicine and Animal Science, UNESP - Univ Estadual Paulista, Botucatu, São Paulo, Brazil.
Vet Dermatol. 2014 Dec;25(6):547-54, e95-6. doi: 10.1111/vde.12145. Epub 2014 Jun 25.
Hereditary equine regional dermal asthenia (HERDA) is an autosomal recessive disorder affecting quarter horses (QHs); affected horses exhibit characteristic skin abnormalities related to abnormal collagen biosynthesis.
HYPOTHESIS/OBJECTIVES: To characterize the thickness and morphological abnormalities of the skin of HERDA-affected horses and to determine the interobserver agreement and the diagnostic accuracy of histopathological examination of skin biopsies from horses with HERDA.
Six affected QHs, confirmed by DNA testing, from a research herd and five unaffected QHs from a stud farm.
The skin thickness in 25 distinct body regions was measured on both sides in all affected and unaffected horses. Histopathological and ultrastructural evaluation of skin biopsies was performed.
The average skin thickness in all of the evaluated regions was thinner in the affected horses. A statistically significant difference between skin thickness of the affected and unaffected animals was observed only when the average magnitude of difference was ≥38.7% (P = 0.038). The interobserver agreement for the histopathological evaluation was fair to substantial. The histopathological sensitivity for the diagnosis of HERDA was dependent on the evaluator and ranged from 73 to 88%, whereas the specificity was affected by the region sampled and ranged from 35 to 75%.
Despite the regional pattern of the cutaneous signs, skin with decreased thickness was not regionally distributed in the HERDA-affected horses. Histopathological evaluation is informative but not conclusive for establishing the diagnosis. Samples of skin from the neck, croup or back are useful for diagnosis of HERDA. However, the final diagnosis must be confirmed using molecular testing.
遗传性马属动物区域性皮肤无力症（HERDA）是一种常染色体隐性疾病，影响美国夸特马（QHs）；患病马匹表现出与异常胶原蛋白生物合成相关的特征性皮肤异常。
假设/目标：描述HERDA患病马匹皮肤的厚度和形态异常，并确定观察者间的一致性以及对HERDA患病马匹皮肤活检组织病理学检查的诊断准确性。
来自一个研究畜群的6匹经DNA检测确诊的患病夸特马和来自一个种马场的5匹未患病夸特马。
在所有患病和未患病马匹的两侧测量25个不同身体部位的皮肤厚度。对皮肤活检组织进行组织病理学和超微结构评估。
在所有评估区域中，患病马匹的平均皮肤厚度较薄。仅当平均差异幅度≥38.7%时，患病和未患病动物的皮肤厚度才观察到统计学上的显著差异（P = 0.038）。组织病理学评估的观察者间一致性为中等至高度。HERDA诊断的组织病理学敏感性取决于评估者，范围为73%至88%，而特异性受取样区域影响，范围为35%至75%。
尽管皮肤体征呈区域性分布，但HERDA患病马匹中皮肤厚度降低的情况并非区域性分布。组织病理学评估对诊断有参考价值但不具有决定性。取自颈部、臀部或背部的皮肤样本对HERDA诊断有用。然而，最终诊断必须通过分子检测来确认。
