European Neurology · 2008 · 25 citations · 0 references
Life SciencesGeneticsMolecular GeneticsHuman GeneticsNeurogeneticsNeuropathologyGenetic DisordersHereditary NeuropathiesMendelian DisordersMendelian Neurological DisordersNeurodevelopmental DisordersNeurogenetic DisordersDisorderHypomelanosis Of ItoNeurologic-dermatologic Syndromes
Two siblings presented the typical skin changes of hypomelanosis of Ito (HI) associated with mental and cerebellar signs. Their mother showed only the skin changes of HI but no neurological disturbances. HI is a hereditary disorder, in which familiarity may go unnoticed because of the different expressions of neural and cutaneous features.