A rare case report of Sturge-Weber syndrome type 2 variant on Roach scale.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 41280572.
- Also identified by DOI 10.4103/jfmpc.jfmpc_317_25 and PMC identifier 12633977.
- Licence recorded as CC BY-NC-SA.
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Abstract
A facial birthmark known as a port-wine stain, neurological symptoms like seizures, hemiparesis, intellectual disability, and learning difficulties, and ocular abnormalities like glaucoma, choroidal haemangiomas, or heterochromia of irides are all associated with Sturge-Weber syndrome (SWS), a rare vascular disorder. We report a novel case of SWS in a 19-year-old woman who had an unusual presentation of the type 2 Roach variation of SWS, characterized by gingival hypertrophy and typical port-wine staining of the face, bilaterally, without any other symptoms.