====== 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, cataract, glaucoma, optic atrophy, strabismus, nystagmus
  * Treated like retinopathy of prematurity
==== Etiology ====
Caused by mutations in the NEMO gene [[http://omim.org/geneMap/X/802?start=-3&limit=10&highlight=802|Xq28]]
==== Other Findings ====
  * CNS abnormalities (33%)
    * microcephaly, hydrocephalus,seizures, mental deficiency
  * Dental abnormalities (66%)
    * missing or malformed teeth
  * Less common: scoliosis, skull deformities, cleft palate, dwarfism
==== References ====
  * Catalano RA. Incontientia pigmenti.AM J Ophthalmol. 1990;110:696-700
  * [[http://omim.org/entry/308300|OMIM]]

{{tag>syndrome}}