Publications by authors named "Line Abdul-Messie"
Article Synopsis
- Lipoid proteinosis (LP), also known as Urbach-Wiethe disease, is a rare condition marked by hoarseness and involvement of multiple organs, often going unrecognized, especially by otolaryngologists.
- The study systematically reviewed literature, analyzing 154 cases to highlight that hoarseness was a common early symptom, typically identified around 19 months but was often diagnosed much later, around 15 years of age, resulting in significant diagnostic delays.
- The findings indicate that while hoarseness is crucial for diagnosing LP, it is frequently missed, with genetic testing of the ECM1 gene being relevant for confirming the diagnosis in many cases.