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--- incontientia_pigmenti [2015/11/10 03:52] – external edit 127.0.0.1
+++ incontientia_pigmenti [2025/04/18 20:40] (current) – external edit 127.0.0.1
@@ Line 1: / Line 1: @@
 ====== Incontientia Pigmenti ======
 **(Block-Sulzberger Syndrome)**
+==== Main Features ====
-===== 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 ====
-===== Eye Findings =====
   * 25-33%
   * Proliferative retinal vasculopathy that resembles retinopathy of prematurity
@@ Line 16: / Line 14: @@
   * Microphthalmos, cataract, glaucoma, optic atrophy, strabismus, nystagmus
   * Treated like retinopathy of prematurity
-===== Etiology =====
+==== Etiology ====
 Caused by mutations in the NEMO gene [[http://omim.org/geneMap/X/802?start=-3&limit=10&highlight=802|Xq28]]
-===== Other Findings =====
+==== Other Findings ====
   * CNS abnormalities (33%)
     * microcephaly, hydrocephalus,seizures, mental deficiency
@@ Line 24: / Line 22: @@
     * missing or malformed teeth
   * Less common: scoliosis, skull deformities, cleft palate, dwarfism
-===== References =====
+==== References ====
   * Catalano RA. Incontientia pigmenti.AM J Ophthalmol. 1990;110:696-700
   * [[http://omim.org/entry/308300|OMIM]]
 {{tag>syndrome}}

syndrome