An Infant With Seizures and Blisters on the Skin

Catherine Achim, MD; Kimberly G. Yen, MD


December 17, 2012


Incontinentia pigmenti, also called Bloch-Sulzberger syndrome, is a rare disease that is characterized by an X-linked dominant transmission. The disease is usually fatal in males and involves skin, brain, and eye anomalies in affected females.

Skin involvement is found in almost all patients and is characterized by different phases. Typically, the skin will exhibit some bullae and erythema on the extremities within the first few days of life, followed by verrucous changes. Later, hyperpigmented macules will appear in a typical splashed-paint distribution, which will eventually become hypopigmented with time.[1]

Central nervous system anomalies are reported in about 40% of patients and may include seizures, hydrocephaly, paralysis, and varying degrees of mental retardation.[1,2] Central nervous system manifestations seem to occur from compromised vascularization in the developing brain, which causes ischemia and generalized atrophy. Other less common and less medically significant problems include hair loss (alopecia); conical, peg-shaped, or absent teeth (anodontia); and nail dystrophy.[1,3]

Ocular problems occur in about 30%-40% of cases and are often unilateral or asymmetric. Such findings as nystagmus, strabismus, microphthalmos, ptosis, blue sclera, pigmentation of the conjunctiva, corneal changes, cataract, optic atrophy, vitreous hemorrhage, and myopia have been reported.

The most significant finding develops when retinal ischemia occurs, resulting in neovascularization and fibrovascular scarring that is vaguely similar to retinopathy of prematurity.[1] If left untreated, it can progress to retinal detachment and consequent blindness. Surgical reattachment is usually unsuccessful. Retinal detachment has been reported in about 11%-12% of cases.[1] In general, detachment will occur in infancy or childhood, and rarely after 6 years of age.[3]

The gene responsible for this condition is IKBKG, also known as NEMO; it has been reported in approximately 80% of patients with incontinentia pigmenti. It is found on Xq28 on the long arm of the X chromosome.[1,3]

Screening for these ocular findings should be done at birth. If findings are abnormal, literature reports suggest that retinal examination should be done frequently. One suggested schedule is every 2 weeks for the first 3 months, then monthly for 6 months, followed by every 3 months for 1 year.[1] If the retinal examination is normal, then following up at this frequency may be too much.