Neuroichthyosis: the interplay between brain and skin

The interplay between skin and neurological disorders is well recognised, given the shared embryological origin of both skin and nervous system cells from the ectoderm. Certain cutaneous manifestations may guide the neurological workup and contribute to a more accurate diagnosis. We report a 20-year-old man with drug-resistant epilepsy and developmental regression since childhood, who had characteristic skin findings compatible with ichthyosis. Despite the broad differential diagnosis for these neurological manifestations, recognising the skin involvement was important in guiding the genetic investigation, ultimately narrowing the diagnosis to the group of neuro-ichthyotic syndromes.