Neuroectodermal Diseases: A Comparative Case Report Study

Neuroectodermal disease involves abnormalities that arise from the ectodermal origin, such as nervous system, eyeball, retina, and skin. Due to rarity of disease, it is often underdiagnosed or misdiagnosed. In this study, researcher presents two cases pediatric patients with no fetomaternal complications who presented focal seizures their initial complaint. During examination, varying skin color pigmentation an abnormal neurophysical examination were observed. Cranial imaging showed hemimegalencephaly voltage asymmetry on EEG. Skin biopsy was performed both cases, which revealed basketweave orthokeratosis. The combination a triad intractable epilepsy, developmental delay, cutaneous lesion prompted consideration neuroectodermal disease. study shows hypomelanosis Ito nevus syndrome, may be due mTOR RAS pathways, respectively.