Chanarin-Dorfman Syndrome: A Case Report
Author Information
Author(s): Ersoy Özdal, Alkım Canan, Onuk Mehmet Derya, Demirsoy Hüseyin, Argon Dilek
Primary Institution: Şişli Etfal Training and Research Hospital, Istanbul, Turkey
Conclusion
The case highlights the importance of recognizing Chanarin-Dorfman syndrome to avoid unnecessary investigations in patients with ichthyosis.
Supporting Evidence
- Chanarin-Dorfman syndrome is a rare inherited disorder characterized by ichthyosis and liver involvement.
- The patient presented with elevated transaminases and hepatosteatosis.
- Awareness of this syndrome can lead to prompt diagnosis and avoid unnecessary investigations.
Takeaway
This study talks about a rare condition called Chanarin-Dorfman syndrome that can cause skin problems and liver issues. A simple blood test can help doctors find it early.
Methodology
The diagnosis was made through clinical examination, blood tests, and liver biopsy.
Limitations
The study is based on a single case report, limiting the generalizability of the findings.
Participant Demographics
A 20-year-old Turkish woman born to consanguineous parents.
Digital Object Identifier (DOI)
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