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Su, Yufei; Zhang, Huifang; Zou, Zongyi; Ma, Yingge; Zhang, Huiping; Wen, Jun; Li, Hui
International journal of dermatology, August 2023, 2023-Aug, 2023-08-00, 20230801, Volume: 62, Issue: 8Journal Article
Introduction Incontinentia pigmenti (IP) is a rare X‐linked dominant genetic disease affecting ectodermal tissue and often misdiagnosed in the neonatal period. The aim of this study was to highlight sequential clinical features and evaluate prognosis of the 32 neonatal IP patients. Material and methods A retrospective descriptive analysis was performed, using the clinical, blood analytical, pathological, radiological, genetic, and followed‐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 babies (93.75%) had eosinophilia (eosinophilic granulocyte count: 0.31–19.9 × 109, mean proportion of white blood cells: 20.98 ± 15.21%). Twenty babies (62.5%) had thrombocytosis (thrombocyte count: 139–975 × 109, mean count: 416.76 ± 176.82). Thirty‐one babies (96.88%) exhibited the first three cutaneous lesion stages characterized by erythema and superficial vesicles on inflammatory bases in a linear distribution in the first week of age. Thirteen babies (40%) combined nervous system abnormalities, and nine babies (28.13%) had retinopathy. Two types of genetic mutations were detected in the NEMO gene. Nineteen babies were followed up. According to the follow‐up, four babies displayed psychomotor retardation, and five babies developed a decrease in vision with astigmatism and amblyopia. Conclusion It is important that 30 babies (93.75%) had eosinophilia and 20 babies (62.5%) had thrombocytosis. Therefore, we speculate that the mechanism of the injury may be related to the platelet aggregation on the basis of the increase in eosinophil cells and the release of inflammatory factors.
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