A Fulminant Case of Incontinentia Pigmenti Presenting With Early Neuro-Ophthalmologic Manifestations

一例暴发性色素失禁症伴早期神经眼科表现

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Abstract

Incontinentia pigmenti (IP) is a rare, X-linked dominant, multisystemic genetic disorder. We report the case of a female neonate presenting with vesiculobullous and erythematous cutaneous lesions involving the hands and feet. Concurrently, she exhibited repetitive flexion movements of all four limbs, which rapidly progressed to status epilepticus. The clinical course was rapidly unfavorable, marked by diffuse retinal ischemia and cerebral palsy. This patient's clinical history illustrates the potential severity of the neurological and ophthalmologic manifestations of IP. It underscores the need to consider IP in the differential diagnosis of cutaneous lesions associated with neurological symptoms in female infants. Early recognition is essential to ensure close monitoring and initiate appropriate multidisciplinary management.

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