BACKGROUND An unusual presentation of skin disease was identified in two related neonatal Pedigree Limousin calves presented to University Veterinary Hospital, University College Dublin, following detailed post mortem examination a diagnosis of dermatosparaxis was made. Dermatosparaxis in animals or Ehlers Danlos Syndrome, which is the analogous condition seen in humans, is a connective tissue disorder characterised by extreme skin fragility. To the authors' knowledge this is the first report of such a diagnosis in the Limousin breed and the features of this lethal phenotype were severe in comparison to previous reports of the condition. CASE PRESENTATION Two calves, which were full siblings, a pedigree Limousin bull (Calf A) and pedigree Limousin heifer (Calf B) were examined clinically after presenting collapsed since birth, both had grossly abnormal skin with multiple skin fissures visible and both calves were subsequently euthanised. Both calves underwent gross post mortem examination, after which histological samples were reviewed and electron microscopical examination of selected skin samples was carried out. Histological features of dysplastic dermal collagen were identified. The diagnosis of dermatosparaxis in the Limousin breed was confirmed. Genetic testing was conducted to determine if the current cases had the same mutation as has previously been described in Belgian Blue cattle. Some common parentage was traced but genetic testing did not show a similar mutation to that previously described in cattle. The specific genetic cause in this case is unknown. CONCLUSIONS This is the first report of dermatosparaxis in the Limousin and the presentation of the dermatosparaxis phenotype has some noteworthy features thus further genetic testing is required to pinpoint the causative mutation or other genetic defect. Given the popularity of the breed and the lethal nature of the phenotype in this case it is important to raise awareness of the condition.

中文翻译：

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在两个利木赞小牛的皮肤角par病。

背景技术在详细的尸检后，对皮肤角axis病进行了诊断，在都柏林大学学院的大学兽医医院的两只相关的新生儿家谱利穆赞犊牛中鉴定出皮肤病的异常表现。动物中的皮肤角膜剥落症或埃勒斯·丹洛斯综合症（Ehlers Danlos Syndrome）是一种与人类相似的病症，是一种结缔组织疾病，其特征是皮肤极度脆弱。据作者所知，这是利穆赞品种中这种诊断的第一份报告，并且与该病的先前报道相比，这种致死表型的特征很严重。病例介绍自出生以来就表现出塌陷的情况，临床上检查了两个小牛，它们是全兄弟姐妹，一个系谱的利穆赞公牛（犊牛A）和一个系谱的利穆赞小母牛（犊牛B），双方的皮肤均严重异常，可见多处皮肤裂痕，且两只小牛均被安乐死。两只小牛均进行大体验尸检查，然后检查组织学样本并对选定的皮肤样本进行电子显微镜检查。鉴定了发育不良的真皮胶原的组织学特征。证实了利木赞品种的皮肤松弛症的诊断。进行了基因测试，以确定当前病例是否具有与比利时蓝牛先前描述的相同的突变。追溯到一些普通的亲缘关系，但基因测试未显示与先前在牛中描述的突变类似的突变。在这种情况下，具体的遗传原因是未知的。结论这是Limousin中皮肤稀疏症的首次报道，并且皮肤稀疏性表型的表现具有一些值得注意的特征，因此需要进一步的基因测试以查明原因突变或其他遗传缺陷。在这种情况下，鉴于该品种的受欢迎程度和表型的致命性质，重要的是提高对这种状况的认识。