Incontinentia Pigmenti: A Rare Case of Survival of a Male Infant

色素失禁:男婴幸存的罕见病例

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Abstract

This case describes a seven-month-old male infant with incontinentia pigmenti (IP), a rare X-linked dominant disorder that is typically lethal in male fetuses. The infant presented with blaschkoid hyperpigmentation but showed no neurologic, dental, or ocular abnormalities. Genetic testing revealed a normal karyotype without IKBKG (inhibitor of nuclear factor kappa B kinase regulatory subunit gamma) mutations, suggesting possible somatic mosaicism, a rare survival mechanism in male patients with IP. This case underscores the rarity of IP in male infants and highlights the need for multidisciplinary follow-up to monitor potential extracutaneous involvement. These findings contribute to the limited understanding of male presentations of IP and their clinical management.

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