AI Article Synopsis
- Waardenburg Syndrome (WS) can manifest as sensorineural hearing loss and changes in skin pigmentation, potentially mimicking serious conditions like melanoma.
- A case involving two siblings showed choroidal pigmentary abnormalities, but further examinations revealed no tumor growth, leading to a diagnosis of WS type 2A due to specific symptoms and genetic testing.
- Understanding the symptoms of WS and utilizing genetic testing can help rule out malignancies, treat hearing loss, and identify affected family members early on.
Article Abstract
Introduction: In addition to sensorineural hearing loss, Waardenburg Syndrome (WS) may present with variable pigmentation of skin and choroid, which may simulate other life-threating conditions (e.g. melanoma).
Case Report: Two siblings ostensibly presented with unilateral choroidal pigmentary abnormalities concerning for choroidal tumour. Serial ophthalmic examination documented no lesion growth (base or height) whilst the apparent syndromic features (i.e. iris hypochromia, profound sensorineural hearing loss, SNHL), family history (autosomal dominant inheritance) and positive genetic testing (pathogenic variant) led to a revised diagnosis of Waardenburg Syndrome type 2A.
Conclusion: Sectoral preservation of choroidal pigmentation in WS is rarely associated with choroidal malignancy. Awareness of syndromic features (e.g. SNHL) and access to genetic testing may facilitate early accurate diagnosis (i.e. allay concern for malignancy), enable treatment of modifiable features (e.g. SNHL) and identify other affected relatives.
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| http://dx.doi.org/10.1080/13816810.2024.2357307 | DOI Listing |
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