AI Article Synopsis

  • - The article discusses a rare case of neonatal incontinentia pigmenti that developed in one male monozygotic twin, who exhibited severe skin lesions and subsequent neurological issues.
  • - The affected infant displayed multiple skin abnormalities, including yellow pustules and hyperpigmentation, alongside significant brain damage revealed by imaging tests, leading to poor health outcomes.
  • - Genetic tests showed no common mutations in the parents, and the unaffected twin remained healthy, highlighting the complexity and rarity of this condition, as well as the need for better awareness and treatment approaches.

Article Abstract

Background: This article reports a case of neonatal incontinentia pigmenti onset in only one male monozygotic twin with characteristic skin lesions after birth followed by severe cerebrovascular lesions.

Case Presentation: A male infant, the first of monozygotic twins, was born with multiple yellow pustules all over his body, repeated new herpes at different sites during the course of the disease, aggravated by fusion, warty crusts, and hyperpigmentation; biopsy pathology suggested eosinophilic spongiform edema of the skin. Peripheral blood eosinophils were significantly elevated, and brain magnetic resonance imaging revealed diffuse multiple cystic and lamellar abnormal signal areas in the left frontal and parietal lobes. On day 30, the infant showed neurological symptoms, such as poor response and apnea, and an emergency cranial computed tomography scan revealed abnormal changes in the left cerebral hemisphere and bilateral cerebellum. After admission, he was given a potassium permanganate bath and topical mupirocin for 1 month, and the skin abnormalities improved. He was treated with mechanical ventilation and vasoactive drugs for 2 days after the cerebrovascular accident, and died the same day after the parents chose hospice care. No deletion variants or point mutations were detected in subsequent genetic tests, and chromosomal copy number variation tests revealed different degrees of chimeric duplications and deletions in different regions of chromosomes Y and 3. The parents were healthy, and his twin brother had normal growth and development with no abnormalities at multiple follow-up visits.

Conclusion: Neonatal incontinentia pigmenti in only one male monozygotic twin is extremely rare and the genetic diagnosis is challenging. Awareness of the combined cerebrovascular lesions needs to be enhanced, and potential prevention and treatment methods need to be explored to improve the prognosis.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11144854PMC
http://dx.doi.org/10.3389/fped.2024.1338054DOI Listing

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