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[Urbach-Wiethe syndrome: a case report]
Ellen Carrara Fonseca1, Lígia Issa De Fendi, Paulo Sérgio Andretta
1Departamento de Oftalmologia, Faculdade de Medicina de Marília, Marilia, SP, Brasil. le_carrara@hotmail.com
Arquivos Brasileiros De Oftalmologia
|October 2, 2007
Summary
This study details a case of Urbach-Wiethe syndrome, a rare genetic disorder, in a 15-year-old girl. The patient presented with characteristic ocular lesions and skin biopsy confirmed the diagnosis.
Area of Science:
- Ophthalmology
- Dermatology
- Genetics
Background:
- Urbach-Wiethe syndrome is a rare autosomal recessive genetic disorder.
- It is characterized by hyalinosis of the skin, mucous membranes, and other organs.
- Ocular manifestations are common, including eyelid lesions.
Observation:
- A 15-year-old girl presented with itchy eyelid lesions, known as moniliform blepharosis.
- She also exhibited other systemic manifestations consistent with Urbach-Wiethe syndrome.
- The diagnosis was confirmed via skin biopsy.
Findings:
- The case presented typical clinical and histopathological findings of Urbach-Wiethe syndrome.
- Ocular involvement, specifically moniliform blepharosis, was a prominent feature.
- Treatment with artificial tears provided partial symptomatic relief.
Implications:
- This case highlights the importance of recognizing ocular signs in diagnosing Urbach-Wiethe syndrome.
- Early diagnosis and management can help alleviate symptoms and improve patient quality of life.
- Further research into effective treatments for ocular manifestations is warranted.
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