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Hereditary Neurocutaneous Angiomatoses: An Overview

Introduction

Hereditary Neurocutaneous Angiomatoses are multisystem disorders that have characteristic central nervous system, ocular, and cutaneous lesions of variable severity. Because the skin and the brain have a common ectodermal origin, the development of numerous genetic and acquired diseases that affect both tissues is observed. Clinically, the coexistence of vascular nevi, ie, hemangiomas and arteriovenous malformations (AVMs) of the skin, associated with AVMs, and venous malformations of the brain are determinant of these hereditary neurocutaneous angiomatoses (see Table H-4).

TABLE H-4Hereditary Neurocutaneous Angiomatoses: An Overview
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TABLE H-4 Hereditary Neurocutaneous Angiomatoses: An Overview
Syndrome Features
☞Louis Bar Syndrome (ataxia–telangiectasia) Progressive ataxia with degeneration of Purkinje cells, loss of myelinated fibers in peripheral nerves, multiple cutaneous telangiectasia, specific immunologic abnormalities, hypersensitivity to irradiation. Ataxia-telangiectasia cells divide before DNA repair can occur, leading to an increased number of observed chromosomal breaks
☞Sturge-Weber Syndrome (encephalotrigeminal angiomatosis) Unilateral facial angioma in the dermatomes of the first or second division of the trigeminal nerve (V), ipsilateral leptomeningeal venous angiomatosis, and cortical atrophy with calcifications, cystic choroid plexus; somatic mutation rather than germ cell mutation (sporadic rather than inherited)
☞Klippel-Trenaunay Syndrome (spinal cutaneous angiomatosis) Spinal variant of Sturge-Weber Syndrome; extensive skin hemangiomas following dermatomal pattern with associated hemangiomas of the spinal cord
☞Hereditary Telangiectasia (Rendu-Osler-Weber Syndrome) Multiple red or purple angiomas, arteriovenous malformations of the skin, viscera, and central nervous system that may cause intracranial bleeding with seizures or localized dysfunction; autosomal dominant
☞Fabry Disease (angiokeratoma, corporis diffusum) Acroparesthesias in the extremities with acute episodes (Fabry crises), development of angiokeratoma, heat intolerance, progressive accumulation of glycosphingolipids in tissues resulting in progressive degeneration and major organ failure; X-linked disease caused by a deficiency of the lysosomal enzyme α-galactosidase
☞Wyburn Mason Syndrome Arteriovenous malformations in the CNS and retina; congenital but nonhereditary disorder, without sex or race predilection

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