Incontinentia pigmenti

Incontinentia pigmenti (IP), also known as Bloch-Sulzberger syndrome, is a rare X-linked dominant genetic disorder caused by mutations in the IKBKG (NEMO) gene located on chromosome Xq28. The condition is typically lethal in males during gestation, so it predominantly affects females. IP is a multi-system disorder that primarily involves the skin, but also affects the eyes, teeth, central nervous system, hair, and nails. The disease classically progresses through four overlapping cutaneous stages: (1) a vesiculobullous (blistering) stage appearing at birth or in the first weeks of life, with inflammatory blisters arranged along the lines of Blaschko; (2) a verrucous (wart-like) stage with raised, thickened lesions; (3) a hyperpigmented stage with characteristic swirled brown or slate-gray pigmentation following Blaschko lines; and (4) a hypopigmented/atrophic stage with pale, hairless streaks, often persisting into adulthood. Extracutaneous manifestations can be significant and include retinal vascular abnormalities that may lead to retinal detachment and vision loss, dental anomalies such as delayed eruption, conical or missing teeth, alopecia, nail dystrophy, and central nervous system involvement including seizures, intellectual disability, and structural brain abnormalities in a subset of patients. There is no cure for incontinentia pigmenti, and management is primarily supportive and multidisciplinary. Early and regular ophthalmologic screening is critical, as timely laser photocoagulation of abnormal retinal vasculature can prevent retinal detachment and preserve vision. Dental interventions, neurological monitoring, and dermatologic care are also important components of management. Genetic counseling is recommended for affected families, as the condition carries a 50% risk of transmission to offspring, with affected male pregnancies frequently resulting in miscarriage.

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