先天性鱼鳞病患者并发椎管外骨质增生和骨质疏松。

Q3 Medicine
N. Torkamani, P. Phal, R. Savarirayan, P. Simm, G. Varigos, J. Wark
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引用次数: 2

摘要

鱼鳞样皮肤病是指一组以角化障碍为基础的疾病(1)。这些疾病在出生时出现,导致皮肤普遍干燥,鳞片状,没有任何炎症。根据其临床表现和遗传方式,鱼鳞病有几种类型。最常见的类型有:寻常型鱼鳞病、x连锁隐性鱼鳞病、表皮松解性角化过度症(大疱性)、板层性鱼鳞病和非大疱性鱼鳞样红皮病。板层状鱼鳞病以常染色体隐性遗传模式遗传,表现出遗传异质性,最严重的类型是由于转谷氨酰胺酶-1基因突变。这种情况在出生时出现皮肤变化,这种情况被称为胶体婴儿。最初,角质层是光滑的,看起来好像被玻璃纸覆盖着。这一层在出生几天后被丢弃,留下全身发炎和鳞片状的外观。这一阶段皮肤紧绷,可能导致外翻,进食困难和温度调节困难。板层状鱼鳞病的特征是板状鳞片,这种鳞片会持续一生,严重影响患者的生活质量(2)。我们在此报告一例因严重的先天性板层状鱼鳞病而服用阿维a蛋白20年的患者,并发多发性椎管外骨质疏松症,并伴有明显的骨质疏松症和维生素D缺乏。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Concomitant extraspinal hyperostosis and osteoporosis in a patient with congenital ichthyosis.
Ichthyosiform dermatosis is a term referred to a group of disorders that have as their basis a disorder of keratinization (1). These conditions which are present at birth result in a generalized dry, scaly skin without any inflammation. There are several types of ichthyosis based on their clinical presentation and mode of inheritance. The most common types are: ichthyosis vulgaris, X-linked recessive ichthyosis, epidermolytic hyperkeratosis (bullous), lamellar ichthyosis and non-bullous ichthyosiform erythroderma. Lamellar ichthyosis, which is inherited in an autosomal recessive pattern, shows genetic heterogeneity with the most severe type being due to mutations in the transglutaminase-1 gene. This condition presents with skin changes at birth and cases are referred to as collodion babies. Initially, the stratum corneum is smooth and appears as though it is covered with cellophane. This layer is discarded a few days after birth, leaving a generalized inflamed and scaly appearance. The skin is tight at this stage and may cause ectropion, and difficulties in feeding and temperature regulation. Lamellar ichthyosis is characterized by plate-like scales that last for life and can significantly impact the patient's quality of life (2). We report here a case of multiple extraspinal hyperostoses concomitant with marked osteoporosis and vitamin D deficiency in a patient taking acitretin for 20 years due to severe congenital lamellar ichthyosis.
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来源期刊
Clinical Cases in Mineral and Bone Metabolism
Clinical Cases in Mineral and Bone Metabolism ENDOCRINOLOGY & METABOLISM-
CiteScore
2.60
自引率
0.00%
发文量
0
期刊介绍: The Journal encourages the submission of case reports and clinical vignettes that provide new and exciting insights into the pathophysiology and characteristics of disorders related to skeletal function and mineral metabolism and/or highlight pratical diagnostic and /or therapeutic considerations.
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