Neuromesodermal (Neurocutaneous) Syndromes

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Ectomesodermal syndromes: a consortium of syndromes characterized by a combination of malformation of the CNS, tumor of the CNS, systemic neoplastic and non-neoplastic manifestations. Ectomesodermal syndromes associated with tumors and hamartomas of the nervous system are also known as neurocutaneous syndrome, phakomatoses and ectodermal dysplasia, characterized by congenital lesions of the skin and the CNS and often in association with ocular and visceral abnormalities. They are often familial. These include:

Vascular Head

• Von Hipple-Lindau disease

• Encephalocutaneous lipomatosis

• Sturge-Weber disease (encephalotrigeminal angiomatosis)

• Mesocephalo-oculo-facial angiomatosis (Wyburn-Mason's syndrome)

• Multiple hemangiomatosis

• Familial retinal cavernous angiomatosis (Gass's syndrome)

• Hereditary hemorrhagic telangiectasis (Osler-Weber-Rendu syndrome)

• Ataxia-telangiectasia

Skin Head

• Basal cell nevus syndrome

• Coffin-Siris syndrome

Pleiotrophic (Multiple sites of origin) Head

• Tuberosus sclerosis

• Neurofibromatosis 1

• Neurofibromatosis 2

• Proteus syndrome

• Bannayan-Zonna and Ruvalcaba-Myhre-Smith syndrome

• Klippel-Trenauny Weber syndrome

• Epidermal nervous syndrome

• Lhermitte-Duclos-Cowden disease

• Hypomelanosis of Ito

• Neurocutaneous melanosis and primary meningeal melanoma

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