Incontinentia pigmenti (Bloch-Sulzberger syndrome): multisystem disease observed in two generations

Incontinentia pigmenti is a rare genodermatosis that most commonly involves the skin, eyes, teeth, and central nervous system. We describe it in two generations. Two twin girls were observed at birth with a characteristic whorling pattern of erythema, patch, and plaques, and were later found to have dental anomalies and eye findings consisting of black pigment granules around the macula and optic nerve head. One child also had strabismus, the most common eye change, and an atrial septal defect. A scarring scalp alopecia was evident in both twins and their mother, who also had typical dental findings.