Thrombocytosis and eosinophilia in 32 Chinese neonatal incontinentia pigmenti patients.

Abstract

Abstract Introduction: Incontinentia pigmenti (IP) is a rare X-linked dominant genetic disease that affects ectodermal tissue and is often misdiagnosed in the neonatal period. This study aimed to highlight the sequential clinical features and evaluate the prognosis of 32 neonatal IP patients. Materials and methods A retrospective descriptive analysis was performed using the clinical, blood analytical, pathological, radiological, genetic, and follow-up data of neonatal patients diagnosed with IP from 2010 to 2021 in Xi’an, China. Results Of the 32 patients, two (6.25%) were male. Thirty patients (93.75%) had eosinophilia (eosinophilic granulocyte count: 0.31-19.9⋅109, mean proportion of white blood cells: 20.98 ± 15.21%). Twenty patients (62.5%) had thrombocytosis (thrombocyte count: 139–975⋅109, mean count: 416.76 ± 176.82). Thirty-one patients (96.88%) exhibited the first three cutaneous lesions, characterised by erythema and superficial vesicles on inflammatory bases, in a linear distribution in the first week of age. Thirteen patients (40%) had combined nervous system abnormalities, and nine patients (28.13%) had retinopathy. Twelve patients (37.5%) had a molecular diagnosis and two types of genetic variants were detected in NEMO. Nineteen patients were followed up ranging from after 1 to 44 months. At follow-up, four patients displayed psychomotor retardation, and five patients developed a decrease in vision with astigmatism and amblyopia. Conclusion Thirty patients had eosinophilia, and twenty patients had thrombocytosis. Therefore, we speculate that the mechanism of injury and occlusion in microvessels may be related to platelet aggregation based on the increase in eosinophil cells and the release of inflammatory factors.