背景:头发显微镜是一种快速,毫不费力的诊断方法,用于日常实践中影响头发的许多疾病。在儿科神经病学实践中,许多疾病都可能伴有毛干疾病。
方法:我们的研究包括有病理性毛发表现的儿童。在光学显微镜下进行毛发的显微镜评估。临床发现,病理性毛干发现,实验室测试,并对患者的最终诊断进行评估。
结果:在我们的研究中,确定了16例具有罕见病理毛发发现的患者。在这16名患者中,九人被诊断出患有巨大的轴索神经病,三个患有格里斯切利综合征,两个患有门克斯病,和两个常染色体隐性隐性毛发疾病。在头发检查中,巨大轴索神经病患者的卷曲和缠结的头发;Griscelli综合征患者的银色金色头发;稀疏,粗糙,Menkes病患者的头发和浅色头发;常染色体隐性隐性毛发患者的毛发减少是显着发现。在光学显微镜下,大多数患者都检测到营养不良的头发。此外,结节性三七的迹象,三重病,发现了PiliTorti.特别是,两名诊断为Griscelli综合征的患者的毛干中的色素沉积和两名Menkes病患者的毛毛torti发现是提示诊断的最重要发现。
结论:在体格检查中检测头发发现并进行光学显微镜评估有助于诊断伴有头发发现的罕见疾病。头发检查应作为身体和神经系统检查的一部分对每个患者进行,无论症状如何。
Hair microscopy is a fast and effortless diagnostic method for many diseases affecting hair in daily practice. Many diseases can present with hair shaft disorders in pediatric neurology practice.
Children with pathological hair findings were included in our study. Microscopic evaluation of the hair was performed under light microscopy. The clinical findings, pathological hair shaft findings, laboratory tests, and final diagnosis of the patients were evaluated.
In our study, 16 patients with rare pathological hair findings were identified. Of these 16 patients, nine were diagnosed with giant axonal neuropathy, three with Griscelli syndrome, two with Menkes disease, and two with autosomal recessive woolly hair disease. In hair inspection, curly and tangled hair in patients with giant axonal neuropathy; silvery blond hair in patients with Griscelli syndrome; sparse, coarse, and light-colored hair in patients with Menkes disease; and hypotrichosis in patients with autosomal recessive woolly hair were remarkable findings. Dystrophic hair was detected in most of the patients on light microscopy. In addition, signs of trichorrhexis nodosa, tricoptylosis, and pili torti were found. In particular, pigment deposition in the hair shaft of two patients diagnosed with Griscelli syndrome and pili torti findings in two patients with Menkes disease were the most important findings suggestingthe diagnosis.
Detection of hair findings in the physical examination and performing light microscopic evaluation facilitates the diagnosis of rare diseases accompanied by hair findings. A hair examination should be performed as a part of physical and neurological examinationson eachpatient regardless of thecomplaint.