变形肌综合征:一种罕见的结缔组织不成比例和不对称过度生长的疾病。

Q3 Medicine
Fahad Qaisar, Nauman Ismat Butt, Muhammad Sohail Ajmal Ghoauri, Madiha Azhar, Muhammad Umair Javed, Abdul Samad
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引用次数: 1

摘要

变形肌综合征是一种罕见的疾病,表现为累及骨骼、皮肤、皮下和神经系统的进行性节段性过度生长。我们报告一例24岁的女性,出生时没有明显的异常。从1岁开始,患者出现左上肢和双下肢不对称肿大,导致右指骨肿大,伴桡骨偏移,右大脚趾肿大,左脚外侧偏移,下肢长度不一致,并发脊柱后凸。由于残疾日益严重,过去几年她一直卧床不起。根据病程进展、马赛克分布和病灶散发的临床特征,诊断为变形肌综合征。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Proteus Syndrome: A Rare Disease Of Disproportionate And Asymmetric Overgrowth Of Connective Tissue.

Proteus syndrome is a rare disease manifested by progressive segmental overgrowth involving the skeletal, Cutaneous, subcutaneous, and nervous systems. We report the case of a 24-year-old female who was born with no obvious abnormality at birth. From the age of 1 year, she developed asymmetric enlargement of her left upper limb and bilateral lower limbs leading to enlargement of the right-hand phalanges with radial deviation, enlargement of the right big toe, lateral deviation of left foot, and discrepancy in the length of lower extremities and kyphoscoliosis. She had become bed-bound for the last few years due to increasing disability. She was diagnosed with Proteus syndrome based on clinical features of progressive course, mosaic distribution, and sporadic occurrence of the lesions.

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