Unilateral skin lesions associated with multiple neoplasms.
A girl with unilateral partly depigmented, partly hyperpigmented atrophic skin lesions, hypertrichosis, postauricular nodules, cataracts, and mild mental retardation is presented. Additionally, she developed multiple neoplasms as optic glaucoma, a psammomatous meningioma and an ameloblastoma. It remains unclear whether our patient suffers from a variant of the epidermal nevus syndrome or a new neuro-ectodermal dysplasia.
D000293:Adolescent; D000564:Ameloblastoma / Q000175:diagnosis; D001478:Basal Cell Nevus Syndrome / Q000175:diagnosis; D003937:Diagnosis, Differential; D005134:Eye Neoplasms / Q000175:diagnosis; D005260:Female; D005910:Glioma / Q000175:diagnosis; D006222:Hamartoma / Q000175:diagnosis; D006429:Hemiplegia / Q000150:complications; D006801:Humans; D006983:Hypertrichosis / Q000175:diagnosis; D008607:Intellectual Disability / Q000150:complications; D008339:Mandibular Neoplasms / Q000175:diagnosis; D008577:Meningeal Neoplasms / Q000175:diagnosis; D008579:Meningioma / Q000175:diagnosis; D009378:Neoplasms, Multiple Primary; D012878:Skin Neoplasms / Q000150:complications* / Q000175:diagnosis; D013577:Syndrome