Monthoux Chloé, de Brot Simone, Jackson Michelle, Bleul Ulrich, Walter Jasmin
Clinic of Reproductive Medicine, Vetsuisse Faculty, University of Zurich, Winterthurerstrasse 260, 8057, Zurich, Switzerland.
Institute of Veterinary Pathology, Vetsuisse Faculty, University of Zurich, Winterthurerstrasse 260, 8057, Zurich, Switzerland.
BMC Vet Res. 2015 Jan 31;11:12. doi: 10.1186/s12917-015-0318-8.
Skin malformations that resembled manifestations of Ehlers-Danlos-Syndrome were described in a variety of domestic animals during the last century as cutis hyperelastica, hyperelastosis cutis, dermatosparaxis, dermal/collagen dysplasia, dermal/cutaneous asthenia or Ehlers-Danlos-like syndrome/s. In 2007, the mutation responsible for Hereditary Equine Regional Dermal Asthenia (HERDA) in Quarter Horses was discovered. Several case reports are available for similar malformations in other breeds than Quarter Horses (Draught Horses, Arabians, and Thoroughbreds) including four case reports for Warmblood horses. Since 2013, a genetic test for the Warmblood Fragile Foal Syndrome Type 1 (WFFS), interrogating the causative point mutation in the equine procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 (PLOD1, or lysyl hydroxylase 1) gene, has become available. Only limited data are available on the occurrence rate and clinical characteristics of this newly detected genetic disease in horses. In humans mutations in this gene are associated with Ehlers-Danlos Syndrome Type VI (kyphoscoliotic form).
This is the first report describing the clinical and histopathological findings in a foal confirmed to be homozygous positive for WFFS. The Warmblood filly was born with very thin, friable skin, skin lesions on the legs and the head, and an open abdomen. These abnormalities required euthanasia just after delivery. Histologic examination revealed abnormally thin dermis, markedly reduced amounts of dermal collagen bundles, with loosely orientation and abnormally large spaces between deep dermal fibers.
WFFS is a novel genetic disease in horses and should be considered in cases of abortion, stillbirth, skin lesions and malformations of the skin in neonatal foals. Genetic testing of suspicious cases will contribute to evaluate the frequency of occurrence of clinical WFFS cases and its relevance for the horse population.
上个世纪，在各种家畜中描述了类似埃勒斯-当洛综合征表现的皮肤畸形，如皮肤弹性过度、皮肤弹性亢进、皮肤松解症、真皮/胶原发育异常、真皮/皮肤无力或埃勒斯-当洛样综合征。2007年，发现了导致美国 Quarter 马遗传性马区域性皮肤无力（HERDA）的突变。除 Quarter 马外，其他品种（挽马、阿拉伯马和纯种马）也有类似畸形的病例报告，其中包括四例温血马的病例报告。自2013年以来，一种针对温血马脆弱幼驹综合征1型（WFFS）的基因检测方法问世，该检测方法可检测马原胶原蛋白赖氨酸2-氧代戊二酸5-双加氧酶1（PLOD1，或赖氨酰羟化酶1）基因中的致病点突变。关于这种新发现的马遗传疾病的发生率和临床特征，仅有有限的数据。在人类中，该基因的突变与埃勒斯-当洛综合征VI型（脊柱后侧凸型）有关。
这是第一份描述确诊为WFFS纯合阳性的幼驹临床和组织病理学检查结果的报告。这匹温血小母马出生时皮肤非常薄且脆弱，腿部和头部有皮肤病变，腹部开放性。这些异常情况导致其出生后不久就实施了安乐死。组织学检查显示真皮异常薄，真皮胶原束数量明显减少，排列松散，深层真皮纤维之间间隙异常大。
WFFS是马的一种新型遗传疾病，在流产、死产、新生幼驹皮肤病变和畸形病例中应予以考虑。对可疑病例进行基因检测将有助于评估临床WFFS病例的发生频率及其在马群中的相关性。
