Hypomelanosis Of Ito Genetics
Hypomelanosis of Ito Concept Id. Although hypomelanosis of Ito is a heterogeneous condition Pellegrino et al. Hypomelanosis Ito Altmeyers Encyclopedia Department Dermatology 1111994 Genetics of Pigmentation Hypomelanosis of Ito. Hypomelanosis of ito genetics . Hypopigmented lesions following the lines of Blaschko are usually the presenting feature. Palms scalp and soles of the feet are usually not affected. Mosaic MTOR pathogenic variants have been reported in HI with brain overgrowth. It is characterised by. Other symptoms may include varying degrees of learning disability seizures increased body hair scoliosis and strabismus. 1 Hypomelanosis of Ito 11 Molecular Etiology 12 Associated Birth Defects 13 Craniofacial Features 14 Skin 15 Neurological Genetic Heterogeneity Finding indicative of chromosomal or genetic mosaicism Limb defects iris heterochromia irregularly spaced teeth streaked whorled or mottled areas of hypopigmentation on the limbs or trunk Intellectual Disabi...