第二只手指骨质疏松症

Cemal Kural, Bülent Tanrıverdi, E. Erçin, E. Baca, A. Kural
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摘要

该病通常发生在儿童、青少年时期,很少在出生时发病。[1]它可以在任何年龄被诊断出来,并且在两性中同样可见。[2]大约一半的病例在20岁时出现症状和体征。[1]虽然这种疾病在生长期间进展迅速,但当生长停止时,它会减慢。皮质线状骨质增生是髓管和骨膜的扩大,类似于受影响骨的典型“融蜡”外观。骨质增生常伴有邻近结缔组织增生和异常。[2]该病可导致四肢生长障碍、关节强直、运动受限。黑骨化症是一种罕见的累及骨骼系统的疾病。这种疾病通常表现为长骨弯曲和疼痛,其病因尚不清楚。我们报告一名20岁的男性患者,因在过去几年中变得更加明显的手部食指畸形和疼痛而入院。放射学观察到第二指骨和掌骨强烈的硬化和皮质增厚。放射学评估的畸形,髓质“流动的蜡烛蜡”图像,以及进一步的实验室检查使我们能够诊断出患者患有一种罕见的疾病——骨质疏松症。该患者接受保守治疗,在过去三年中一直定期接受随访检查,目前仍在保守随访。在这个病例中,我们详细介绍了一个罕见疾病的病例,这是最罕见的手部受累。
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Melorheostosis on the second finger of the hand
The disease onset is often in childhood, adolescence, and rarely at birth.[1] It can be diagnosed at any age, and it is seen equally in both sexes.[2] About half of the cases present signs and symptoms by the age of 20.[1] While the disease's progression is fast during growth, it slows down when growth stops. Linear hyperostosis of the cortex is the enlargement of the medullary canal and periosteum, which resembles a typical ’melting wax’ appearance of the affected bone. Hyperostosis is often accompanied by hyperplasia and abnormalities in adjacent connective tissues.[2] This disease may result in growth disturbance in the extremity, joint ankylosis, restricted movement, Melorheostosis is a rare disease with skeletal system involvement. The etiology of the disease, which usually manifests itself with bending and pain in the long bones, is still unknown. We present a 20-year-old male patient admitted to our outpatient clinic with complaints of deformity and pain in the second finger of the hand that had become more evident in the last several years. Intense sclerosing and cortical thickening were observed radiologically in the second phalanges and metacarpal. Deformities in radiological evaluation, ‘flowing candle wax’ image in the medulla, and further laboratory examinations enabled us to diagnose the patient with a rare disease, melorheostosis. The patient, who was treated conservatively, has been attending his follow-up examinations regularly for the last three years and is still being followed up conservatively. In this case, we presented a case of this rare disease, which is the rarest hand involvement, in detail.
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