06/04/19 The Neurocutaneous Syndromes, also called Phakomatoses, are a heterogeneous group of congenital disorders involving structures primarily derived from: - NEUROECTODERM: CNS, PNS, skin, eye - MESODERM: blood vessels, bone, cartilage - ENDODERM: epithelial lining the GI tract NEURAL CREST Neurocutaneous syndromes (covers schwannoma, hemangioblastoma, ...) Andrea Rossi, MD Neuroradiology Unit G. Gaslini Children’s Hospital - Genoa, Italy
[email protected] Sarnat H J Child Neurol 2005 OTHER RARE PHAKOMATOSES Basal Cell Nevus Syndrome phakomatosis [fak′ōmətō′sis] pl. phakomatoses Organoid Nevus Syndrome Cowden-Lhermitte-Duclos (COLD) Epidermal nevus Syndrome Etymology: Gk, φακός phako: spot, lens, oma: tumor, osis: condition Encephalocraniocutaneous Lipomatosis Xeroderma pigmentosum This term was introduced by Jan van der Hoeve, a Dutch ophthalmologist, MELANO in 1920, to indicate the benign tumor-like nodules of the eye in VASCULAR PHAKOMATOSES PHAKOMATOSES - Neurofibromatosis (Recklinghausen's disease) PHACE Syndrome Hypomelanosis of Ito Ataxia Telangiectasia Incontinentia Pigmenti - Tuberous sclerosis (Bourneville's disease) Wyburn-Mason Waardenburg Syndrome Neurocutaneous Melanosis HHT Nevus of Ota - Encephalotrigeminal angiomatosis (Sturge-Weber syndrome) Blue Rubber Bleb Nevus Meningioangiomatosis McCune-Albright - Cerebroretinal angiomatosis (Von Hippel-Lindau disease) Nelson Syndrome MAIN RETINAL HAMARTOMAS PHAKOMATOSES The original “Phakoma” of van der Hoeve in a TSC patient Neurofibromatosis 1 Neurofibromatosis 2 Tuberous