Incontinentia Pigmenti (Bloch-Sulzberger Syndrome)

Excerpt

Incontinentia pigmenti (IP) or Bloch-Sulzberger syndrome, is a rare X-linked dominant genodermatosis. Other names of this disorder include Bloch–Siemens syndrome, Bloch–Sulzberger disease, melanoblastosis cutis, pigmented dermatosis Siemens-Bloch type, and nevus pigmentosus systematicus. IP is the consequence of a mutation in the IKBKG gene (formerly known as NEMO or nuclear factor kappa essential modulator).

Incontinentia pigmenti clinically presents with skin, central nervous system, eyes, teeth, hair, and nail involvement. This rare condition usually presents within the first few weeks of life and is most commonly seen in females and rarely in males. IP is usually fatal in male infants; females show variable phenotypic presentation and survive due to lyonization, as seen in many X-linked disorders. Skin involvement is one of the first to be noted and progresses through four stages: vesicular, verrucous, hyperpigmented, and hypopigmented/atrophic stage. The central nervous system (CNS) manifestations and eye manifestations can cause severe disability in these patients.

The diagnosis of IP can be made clinically and confirmed with genetic testing. Management of IP requires a multidisciplinary approach, including referral to pediatric dermatology for management of blisters, prevention of secondary skin infections; dental care; screening by an ophthalmologist to reduce the risk of retinal detachment; referral to pediatric neurology for management of seizures and neurological deficits; care by a pediatrician and developmental specialists to address the developmental delay.

The low incidence of this condition worldwide makes diagnosis and prompt management a challenge. Surveillance and medical management protocols have been established by the Incontinentia Pigmenti International Foundation and the National Foundation for Ectodermal Dysplasias.