A report of a case of pediatric X-linked reticulate pigmentary disorder complicated with nystagmus / 中国中西医结合急救杂志

ABSTRACT

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.