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罕见皮肤表现的早发型肌萎缩侧索硬化症:病例报告与文献综述

Young-onset Amyotrophic Lateral Sclerosis with Rare Skin Manifestation: Case Report and Literature Review.

作者信息

Qazi Aamna, Malik Farheen, Shafi Lubna, Basar Saqib, Qazi Azka

机构信息

Medicine, Dow University of Health Sciences, Karachi, PAK.

Internal Medicine, Dow University of Health Sciences, Karachi, PAK.

出版信息

Cureus. 2020 Apr 27;12(4):e7844. doi: 10.7759/cureus.7844.

Abstract

Amyotrophic lateral sclerosis (ALS) is one of the most common motor neuron diseases (MND), which presents as muscle weakness, atrophy, spasticity, and, in extreme cases, may result in death due to respiratory failure. ALS has been reported with dermatological conditions such as bullous pemphigoid and decreased collagen. Hyperpigmentation usually occurs due to underlying adrenal or metabolic disorder, but no case of hyperpigmentation has been associated with MND. We report a case of a 25-year-old man who presented with signs of young-onset ALS (progressive weakness of both upper limbs) with hyperpigmentation of limbs. The patient did not have any other underlying etiology, which could have led to the development of hyperpigmentation Biopsy was negative for polymyositis and dermatomyositis. The patient was counseled about the nature of the disease and was advised regular follow-ups.

摘要

肌萎缩侧索硬化症(ALS)是最常见的运动神经元疾病(MND)之一,其表现为肌肉无力、萎缩、痉挛,在极端情况下,可能因呼吸衰竭而死亡。已有报道称ALS与大疱性类天疱疮等皮肤病以及胶原蛋白减少有关。色素沉着过度通常是由潜在的肾上腺或代谢紊乱引起的,但尚无色素沉着过度与MND相关的病例报道。我们报告一例25岁男性患者,其表现为早发性ALS(双上肢进行性无力)的症状并伴有肢体色素沉着过度。该患者没有任何其他可能导致色素沉着过度的潜在病因。活检结果显示多肌炎和皮肌炎均为阴性。已向患者告知该疾病的性质,并建议其定期随访。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3c71/7253073/c53bbc65bfc0/cureus-0012-00000007844-i01.jpg

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