Syndactyly/brachyphalangy and nail dysplasias as marker lesions for sclerosteosis
Syndactyly/brachyphalangy and nail dysplasias as marker lesions for sclerosteosis
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DOI：
10.1159/000051649
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发表时间：
2001-01-01
期刊：
影响因子：
3.4
通讯作者：
Hauser, V
中科院分区：
文献类型：
--
作者：
Itin, PH;Keserü, B;Hauser, V
硬化症是一种常染色体隐性遗传的全身性皮质骨肥厚症（MIM 239100）。硬化症主要是成骨细胞过度活跃的疾病，不存在代谢异常。除了全身性骨骼改变外，食指和中指的不对称皮肤并指畸形也是特征性的。在许多情况下，这种并指畸形与指甲发育不良有关，因此皮肤科医生应该认识到这种临床发现是这种实体的可能标志。我们报告一位36岁的希腊裔女性，自出生以来就有手指和指甲发育不良和面部不对称。患者因痉挛性和共济失调性步态障碍加重而在神经科病房住院。体格检查发现许多神经系统问题，由骨压迫神经引起。此外，患者的手指明显变形，两侧第二手指发育不全。指甲发育不良，尤其是在两个食指上。所有关于代谢性疾病的实验室检查结果均正常。已经表明，硬化症在临床和X线影像学上与货车-布赫姆病非常相似。通过使用高度多态性微卫星的全基因组搜索，已将导致货车Buchem病的基因定位于17 q12-q21，并且Balemans等人（1999）将硬化性骨病的基因座定位于相同区域，为等位性假说提供遗传支持。皮肤科医生应该能够解释这种并指畸形与指甲畸形作为一个可能的提示诊断硬化症的患者骨肥厚的特点。版权所有（C）2001 S. Karger AG，巴塞尔。
Sclerosteosis describes an autosomal recessive form of hyperostosis corticallis generalisata (MIM 239100). Sclerosteosis is primarily a disorder of osteoblast hyperactivity and metabolic abnormalities are not present. Besides generalized bone changes the presence of asymmetric cutaneous syndactyly of the index and middle fingers is characteristic. In many cases this syndactyly is associated with nail dysplasia and therefore dermatologists should recognize this clinical finding as a possible marker of this entity. We report on a 36-year-old female of Greek origin who had had finger and nail dysplasias and facial asymmetry since birth. The patient was hospitalized on the Neurology ward because of increasing spastic and ataxic gait disturbances. Physical examination revealed numerous neurological problems resulting from bony compression of nerves. Furthermore the patient had remarkably deformed fingers with hypoplasia of the second finger on both sides. The nails were dysplastic, especially on both index fingers. All laboratory results concerning metabolic diseases were normal. It has been shown that sclerosteosis is clinically and radiographically very similar to van Buchem disease. Through a genome-wide search with a highly polymorphic microsatellite the gene responsible for van Buchem disease has been mapped to 17q12-q21, and Balemans et al. (1999) assigned the locus for sclerosteosis to the same region providing genetic support for the hypothesis of allelism. Dermatologists should be able to interpret such syndactyly associated with nail deformities as a possible hint for the diagnosis of sclerosteosis in patients with hyperostotic features. Copyright (C) 2001 S. Karger AG, Basel.