Incontinentia pigmenti achromians as part of a neurocutaneous syndrome: a case report.
A case of incontinentia pigmenti achromians associated with mental retardation, epilepsy, short stature and ocular anomalies was reported. A study of this case together with a review of the 38 cases in the literature revealed that this entity has been associated with central nervous system involvements at a high frequency. It is necessary, therefore, to consider incontinentia pigmenti achromians as a neurocutaneous syndrome from the viewpoint of pediatric neurology.
D002648:Child; D004393:Dwarfism, Pituitary / Q000175:diagnosis; D004827:Epilepsy / Q000175:diagnosis*; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis*; D012880:Skin Pigmentation; D013577:Syndrome