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变形综合征:一种罕见的结缔组织过度生长且不成比例和不对称的疾病。

Proteus Syndrome: A Rare Disease Of Disproportionate And Asymmetric Overgrowth Of Connective Tissue.

作者信息

Qaisar Fahad, Butt Nauman Ismat, Ajmal Ghoauri Muhammad Sohail, Azhar Madiha, Javed Muhammad Umair, Samad Abdul

机构信息

Bahawal Victoria Hospital, Quaid-e-Azam Medical College, Bahawalpur-Pakistan.

Azra Naheed Medical College, Superior University Lahore-Pakistan.

出版信息

J Ayub Med Coll Abbottabad. 2023 Feb-Mar;35(1):177-179. doi: 10.55519/JAMC-01-11210.

Abstract

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.

摘要

变形综合征是一种罕见疾病,表现为累及骨骼、皮肤、皮下组织和神经系统的进行性节段性过度生长。我们报告一例24岁女性病例,该患者出生时无明显异常。从1岁起,她出现左上肢和双下肢不对称增大,导致右手指骨增大并向桡侧偏斜、右拇趾增大、左脚向外侧偏斜,以及下肢长度差异和脊柱后凸侧弯。由于残疾日益加重,她在过去几年里一直卧床不起。根据病程进展、镶嵌分布和病变散在发生的临床特征,她被诊断为变形综合征。

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