小儿X连锁网状色素异常症合并眼球震颤1例报告

A report of a case of pediatric X-linked reticulate pigmentary disorder complicated with nystagmus

X连锁网状色素异常症是一种临床罕见、病因不明的遗传性色素异常性疾病.现报告1例X连锁网状色素异常症合并眼球震颤患者的诊疗过程.患者表现为天生眼球震颤,身体大部分皮肤布满色素沉着斑,色泽较深,面部、手臂、前胸、后背等处存在色素减退斑.病理学结果为表皮角化过度,棘层肥厚,基底层黑素细胞数量正常,部分区域黑素颗粒数量增多;真皮浅层血管周围少数淋巴细胞浸润,过碘酸-雪夫(PAS)染色显示角层内偶见真菌孢子,符合X连锁网状色素异常症合并眼球震颤的特征.

X-linked reticulate pigmentary disorder is an clinically rare hereditary pigmentary abnormal disease with unknown etiology. This paper reports the diagnosis and treatment of a case of X-linked reticular pigmentosis complicated with nystagmus. The main symptoms and signs were nystagmus, most of the skin of body with dark color, and pigmentation spots on the face, arms, chest, back, etc. Pathological results showed hyperkeratosis of the epidermis, hypertrophy of the acanthosis, normal number of melanocytes in the basal layer, and increased number of melanin particles in some areas. A small number of lymphocytes were infiltrated around the superficial vascular layer, and fungal spores were occasionally seen in the horn layer by periodic acid Schiff (PAS) staining, which was consistent with the characteristics of X-linked reticular pigment abnormalities complicated with nystagmus.