An Infant With Seizures and Blisters on the Skin

Catherine Achim, MD; Kimberly G. Yen, MD


December 17, 2012

Case Diagnosis

The retinal findings in association with the characteristic skin findings suggest incontinentia pigmenti. Because the child was born full-term, retinopathy of prematurity is not a consideration. Neither Coats disease nor familial exudative vitreoretinopathy is associated with these dermatologic findings.

Clinical Course

The patient was seen by retina and genetics specialists, who agreed with the diagnosis of incontinentia pigmenti. Owing to the patient's unstable neurologic state and refractory seizures, she was not placed under general anesthesia for fluorescein angiography.

The patient was followed with serial retinal examinations. The retinal hemorrhages and macular lesion progressively resolved on their own. The retinal periphery also eventually became vascularized.