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| + | ====== Incontientia Pigmenti ====== | ||
| + | **(Block-Sulzberger Syndrome)** | ||
| + | ==== Main Features ==== | ||
| + | * 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 | ||
| + | ==== Eye Findings ==== | ||
| + | * 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, | ||
| + | * Treated like retinopathy of prematurity | ||
| + | ==== Etiology ==== | ||
| + | Caused by mutations in the NEMO gene [[http:// | ||
| + | ==== Other Findings ==== | ||
| + | * CNS abnormalities (33%) | ||
| + | * microcephaly, | ||
| + | * Dental abnormalities (66%) | ||
| + | * missing or malformed teeth | ||
| + | * Less common: scoliosis, skull deformities, | ||
| + | ==== References ==== | ||
| + | * Catalano RA. Incontientia pigmenti.AM J Ophthalmol. 1990; | ||
| + | * [[http:// | ||
| + | {{tag> | ||