临床,生物化学,组织学,据报道,有5只相关的雌性罗威纳犬的超微结构异常,患有遗传性角质化疾病。五只狗中的三只也有多个非皮肤先天性缺陷。皮肤异常包括全身性,过度角化,可变的色素斑块,其中一只狗沿着布拉斯科线分布。在所有皮肤标本的组织病理学检查中,观察到中度至重度角化不全,涉及滤泡性漏斗状和孔和局灶性角化角化,棘突细胞空泡化。在两只狗中补充口服锌,在一只狗中补充维生素A酒精和骨化三醇不会导致角化过度病变的临床或组织学改善。狗的这种角质化疾病类似于遵循Blaschko路线的人类角质化疾病。布拉斯科的线条在脊柱上呈V形,腹部呈S形,和四肢上的轴向分布。没有相关的雄性狗受到影响,暗示了X连锁的显性遗传模式。这种遗传性DOC的许多特征对应于人类病症CHILD综合征。
The clinical, biochemical, histological, or ultrastructural abnormalities of five related female Rottweiler dogs with a hereditary disorder of cornification are reported. Three of the five dogs also had multiple noncutaneous congenital defects. Cutaneous abnormalities included generalized, hyperkeratotic, variably pigmented plaques, which in one dog were distributed along Blaschko\'s lines. Moderate to severe parakeratosis involving the follicular infundibula and ostia and focal orthokeratosis with variable vacuolation of spinous cells was observed on histopathologic examination of all skin specimens. Supplementation with oral zinc in two dogs and vitamin A alcohol and calcitriol in one dog did not result in clinical or histological improvement of the hyperkeratotic lesions. This disorder of cornification in dogs is similar to human disorders of cornification that follow the lines of Blaschko. Blaschko\'s lines follow a V-shape over the spine, an S-shape on the abdomen, and an axial distribution on the limbs. No related male dogs were affected, suggesting an X-linked dominant mode of inheritance. Many features of this hereditary DOC correspond to the human condition CHILD syndrome.