Clinical observation of familial cases of congenital ichthyosis

Nailya R. Pimenova, E. Kashirskaya, A. Alekseeva
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Abstract

Background. Ichthyosis is a group of rare genetic diseases with a wide phenotypic spectrum, characterized most often by generalized hyperkeratinization and desquamation with variable erythema [1]. In most cases, the diagnosis is established immediately after birth on the basis of clinical data. The basis of treatment is correct skin care, regular moisturizing, prevention of infection. Case Reports. The article describes clinical cases of congenital ichthyosis in two boys from the same family born 8 years apart. At the time of birth, both children had similar clinical signs and the disease progression types. Conclusion. Children in this family showed a genetically similar form of congenital ichthyosis. Due to timely initiation of complex treatment and correct skin care, there was a significant favourable evolution.
先天性鱼鳞病家族性临床观察
背景。鱼鳞病是一组罕见的遗传性疾病,具有广泛的表型谱,最常见的特征是广泛性角化过度和脱屑伴变异性红斑[1]。在大多数情况下,诊断是在出生后立即根据临床资料确定的。治疗的基础是正确护肤,定期补水,预防感染。案例报告。本文描述了两名来自同一家庭的男孩的先天性鱼鳞病的临床病例,他们出生时相隔8年。出生时,两患儿的临床症状和疾病进展类型相似。结论。这个家庭的孩子表现出遗传上相似的先天性鱼鳞病。由于及时开始复杂的治疗和正确的皮肤护理,有一个显著的有利的演变。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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