Hypomelanosis of Ito (HMI)

Hypomelanosis of Ito, also known as incontinentia pigmenti achromians, is related to weber syndrome and rapidly involuting congenital hemangioma, and has symptoms including muscle spasticity, seizures and exanthema. An important gene associated with Hypomelanosis of Ito is GTF3C5 (General Transcription Factor IIIC Subunit 5), and among its related pathways/superpathways are Signal Transduction and Prolactin Signaling. The drugs Aldesleukin and Tacrolimus have been mentioned in the context of this disorder. Affiliated tissues include skin and eye, and related phenotypes are macrocephaly and intellectual disability