Incontientia Pigmenti

(Block-Sulzberger Syndrome)

• Involves skin, brain and eyes
• X-Linked dominant, usually lethal to males
• Skin normal at birth but erythema and bullae develop in first few days of life usually on extremities
• Verrucous changes at two months of age then small hyperpigmented macules on trunk appear

• 25-33%
• Proliferative retinal vasculopathy that resembles retinopathy of prematurity
• At birth incomplete peripheral vascularization develops into abnormal vascular shunts and neovascular membranes
• Retinal detachment often develops
• Retrolental membrane formation (pseudoglioma)
• Microphthalmos, cataract, glaucoma, optic atrophy, strabismus, nystagmus
• Treated like retinopathy of prematurity

Caused by mutations in the NEMO gene Xq28

• CNS abnormalities (33%)
  • microcephaly, hydrocephalus,seizures, mental deficiency
• Dental abnormalities (66%)
  • missing or malformed teeth
• Less common: scoliosis, skull deformities, cleft palate, dwarfism

• Catalano RA. Incontientia pigmenti.AM J Ophthalmol. 1990;110:696-700
• OMIM