(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
oculoman