[Elastosis perforans serpiginosa with vitamin A deficiency in a child with trisomy 21].
[Elastosis perforans serpiginosa with vitamin A deficiency in a child with trisomy 21].
复制标题
[21 三体儿童伴有维生素 A 缺乏的穿孔弹性纤维变性]。
DOI：
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发表时间：
1996
期刊：
影响因子：
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通讯作者：
G. Lorette
中科院分区：
文献类型：
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作者：
V. Jan;J. Saugier;B. Arbeille;C. Maurage;A. Callens;G. Lorette
介绍
蛇形穿通性弹性组织变性常发生于21三体。我们报告一个病例，维生素缺乏可能导致皮肤病变的发展。
病例报告
一个11岁的女孩与三体21开发丘疹角化疹与线性蜿蜒分布，主要涉及下肢。超微结构观察可见大量弹性纤维穿过表皮，基底膜消失。该患者还存在房室管完全通畅，伴左心室和心脏肝脏发育不全。血清维生素A水平较低（0.56 μ mol/l，正常> 1.55）。阿维A的处方剂量为0.5 mg/kg/天，但尽管临床症状明显改善，但由于肝酶水平升高，2个月后不得不停用。
讨论
在一个21三体患儿中观察到的蛇形穿通性弹性组织变性和维生素A缺乏之间的联系，从未被其他人报道过。维生素A缺乏可加重皮肤损害。在我们的病例中，维生素A缺乏和心源性肝病之间可能存在关系。维生素A对弹性组织的角膜调节作用还不太为人所知。类维生素A治疗提供了临床改善，但由于肝毒性不得不停止。肠胃外维生素A将是一个有趣的替代品，但副作用的风险理论上将大于口服类维生素A。
INTRODUCTION
Elastosis perforans serpiginosa frequently occurs in trisomy 21. Usually no cause is found. We report a case in which vitamin deficiency may have contributed to the development of skin lesions.
CASE REPORT
A 11-year-old girl with trisomy 21 developed papulokeratosic eruptions with a linear serpiginous distribution, predominantly involving the lower limbs. On ultrastructure examination, numerous elastic fibers penetrated the epiderma and the baseline membrane had disappeared. The patient also had a totally patent atrioventricular canal with hypoplasia of the left ventricle and cardiac liver. Serum vitamin A level was low (0.56 mumol/l, normal > 1.55). Acitretine was prescribed at the dose of 0.5 mg/kg/day but had to be stopped 2 months later due to elevated liver enzyme levels despite a clear clinical improvement.
DISCUSSION
This association between elastosis perforans serpiginosa and vitamin A deficiency, observed here in a child with trisomy 21, has never been reported by others. Vitamin A deficiency might aggravate the skin lesions. In our case, there was probably a relationship between the vitamin A deficiency and the cardiogenic liver disease. The keratoregulatory effect of vitamin A on elastic tissue is less well known. Treatment with retinoids provided clinical improvement but had to be stopped due to hepatotoxicity. Parenteral vitamin A would be an interesting alternative but the risk of side effects would theoretically be greater than with oral retinoids.