Minor R R, Lein D H, Patterson D F, Krook L, Porter T G, Kane A C
J Am Vet Med Assoc. 1983 Jan 15;182(2):142-8.
Two unrelated mixed-breed dogs were donated for studies of their fragile, hyperextensible skin. Breeding of these dogs to bitches with normal skin showed that half of their male and female offspring also had fragile, hyperextensible skin, indicating that the defect was transmitted as an autosomal dominant trait in both dogs. Electron microscopy showed distinct abnormalities in the packing of collagen into fibrils and fibers in affected skin. These packing defects in dermal collagen were identical in related dogs, but were slightly different in unrelated animals. A clinical test, the skin extensibility index, was used to quantitate the extensibility of affected and unaffected skin. This index ranged from 8% to 15% in normal dogs and from 17% to 25% in newborn pups and adult dogs with collagen packing defects. The tensile strength of dorsolateral thoracic skin of affected pups was only 5% to 10% of that of matched specimens of paired littermates. The hyperextensibility and fragility of skin were the only clinical signs, but radiographic and microradiographic studies revealed subclinical involvement of bone.
两只无亲缘关系的混种犬被捐赠用于研究其脆弱、过度伸展的皮肤。将这些犬与皮肤正常的母犬交配,结果显示它们的雄性和雌性后代中有一半也患有脆弱、过度伸展的皮肤,这表明该缺陷在两只犬中均作为常染色体显性性状遗传。电子显微镜检查显示,患病皮肤中胶原蛋白聚合成原纤维和纤维的过程存在明显异常。相关犬的真皮胶原蛋白中的这些堆积缺陷是相同的,但在无亲缘关系的动物中略有不同。一种临床测试,即皮肤伸展性指数,被用于量化患病和未患病皮肤的伸展性。正常犬的该指数范围为8%至15%,患有胶原蛋白堆积缺陷的新生幼犬和成年犬的该指数范围为17%至25%。患病幼犬背外侧胸部皮肤的抗张强度仅为同窝配对对照样本的5%至10%。皮肤的过度伸展性和脆弱性是唯一的临床症状,但X射线和微射线摄影研究显示骨骼存在亚临床病变。