Hartley Claudia, Donaldson David, Smith Ken C, Henley William, Lewis Tom W, Blott Sarah, Mellersh Cathryn, Barnett Keith C
Unit of Comparative Ophthalmology, Centre for Small Animal Studies, Animal Health Trust, Lanwades Park, Kentford, Newmarket, Suffolk CB8 7UU, UK.
Vet Ophthalmol. 2012 Sep;15(5):315-26. doi: 10.1111/j.1463-5224.2011.00986.x. Epub 2011 Dec 29.
The clinical presentation and progression (over 9 months to 13 years) of congenital keratoconjunctivitis sicca and ichthyosiform dermatosis (CKCSID) in the Cavalier King Charles spaniel dog are described for six new cases and six previously described cases. Cases presented with a congenitally abnormal (rough/curly) coat and signs of KCS from eyelid opening. Persistent scale along the dorsal spine and flanks with a harsh frizzy and alopecic coat was evident in the first few months of life. Ventral abdominal skin was hyperpigmented and hyperkeratinized in adulthood. Footpads were hyperkeratinized from young adulthood with nail growth abnormalities and intermittent sloughing. Long-term follow-up of cases (13/25) is described. Immunomodulatory/lacrimostimulant treatment had no statistically significant effect on Schirmer tear test results, although subjectively, this treatment reduced progression of the keratitis. Histopathological analysis of samples (skin/footpads/lacrimal glands/salivary glands) for three new cases was consistent with an ichthyosiform dermatosis, with no pathology of the salivary or lacrimal glands identified histologically. Pedigree analysis suggests the syndrome is inherited by an autosomal recessive mode.
本文描述了6例新病例及6例既往报道病例中，骑士查理王小猎犬先天性干燥性角结膜炎和鱼鳞病样皮肤病（CKCSID）的临床表现及病程（9个月至13年）。病例自睁眼起即表现出先天性异常（粗糙/卷曲）的被毛以及干眼综合征的体征。在出生后的头几个月，可见沿背部脊柱和胁腹持续存在鳞屑，被毛粗糙卷曲且脱毛。成年后，腹部腹侧皮肤色素沉着过度且角化过度。成年早期脚垫角化过度，伴有指甲生长异常和间歇性脱落。文中描述了对病例（25例中的13例）的长期随访情况。免疫调节/催泪刺激治疗对泪液分泌试验结果无统计学显著影响，不过从主观感受来看，该治疗减缓了角膜炎的进展。对3例新病例的样本（皮肤/脚垫/泪腺/唾液腺）进行组织病理学分析，结果与鱼鳞病样皮肤病相符，组织学检查未发现唾液腺或泪腺存在病变。系谱分析表明，该综合征以常染色体隐性模式遗传。
