Sturge-Weber syndrome

Topic Completed: 1 August 2013

Minor changes: 7 October 2019

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PubMed Search: Sturge-Weber syndrome conjunctiva

Deepali Jain, M.D.
Page views in 2019: 275
Page views in 2020 to date: 139
Cite this page: Jain D. Conjunctiva: Sturge-Weber syndrome. PathologyOutlines.com website. https://www.pathologyoutlines.com/topic/eyesturgeweberconjunctiva.html. Accessed June 7th, 2020.
Definition / general
  • Also called encephalotrigeminal angiomatosis
  • One in 20,000 to 50,000 live births
  • Endothelial layer of blood vessels shows increased proliferation and apoptosis
  • Increased expression of some vascular growth factors such as fibronectin and vascular endothelial growth factor and its receptor
  • Altered structure and function of blood vessels (Handb Clin Neurol 2013;111:315)
Clinical features
  • Type 1: facial angioma and pial (relating to pia mater) angioma with inconstant ophthalmological involvement
  • Type 2: facial angioma without pial angioma with inconstant ophthalmological signs
  • Type 3: isolated pial angioma (Handb Clin Neurol 2013;111:315)
Clinical images

AFIP images
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Nevus flammeus of skin and conjunctiva
with glaucoma and secondary cataract

Images hosted on other servers:
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Port wine spot and conjunctival involvement

Microscopic (histologic) description
  • Conjunctival and episcleral vascular lesions (Eur J Ophthalmol 2000;10:239)
  • Endothelial layer of blood vessels shows increased proliferation and apoptosis
  • Cavernous hemangioma
Microscopic (histologic) images

AFIP images
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Diffuse hemangioma of choroid

Molecular / cytogenetics description
  • Somatic mutation involving fibronectin
  • Candidate genes involved in vasculogenesis and neurogenesis
  • Chromosomal abnormalities as paracentric inversion or chromosome 10 trisomy in fibroblasts from affected skin areas (Handb Clin Neurol 2013;111:315)
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