Phakomatoses

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  1. Tuberous sclerosis, neurofibromatosis, cutaneous angiomatosis with CNS abnormalities (Sturge-Weber, Osler- Weber disease, dermatomal hemangiomas with spinal vascular malformations, epidermal nevus syndrome, vHL disease, Fabry disease)
    1. Sturge Weber – discussed elsewhere
    2. Osler Rendu Weber (hereditary hemorrhagic telangiectasia-HHT)
      1. Transmitted autosomal dominant affecting skin, mucous membrane, GI and GU tracts and occasionally the nervous system
      2. Prone to bleeding due to defect in vessel wall
    3. dermatomal hemangiomas with spinal vascular malformations (a.k.a. Klippel-Tranaury-Weber syndrome)
      1. hemangioma of the spinal cord may rarely be accompanied by a vascular nevus in the corresponding dermatome
    4. epidermal nevus syndrome
      1. epidermal nevus or linear sebaceous nevus associated with ipsilateral hemicranial abnormality
      2. one sided thickening of the skull is characteristic
    5. vHL and Fabry – discussed elsewhere
  2. Common features:
    1. autosomal dominant transmission, involvement of organs of ectodermal origin (nervous system, eyeball, retina, and skin), slow evolution of lesions and adolescence, tendency to form hamartomas and disposition for malignant transformation
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