Lipoid proteinosis: A rare entity
| Autor: | Bipasha Mukherjee, Pratheeba N Devi |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2015 |
| Předmět: | |
| Zdroj: | Indian Journal of Ophthalmology, Vol 63, Iss 8, Pp 680-681 (2015) |
| Druh dokumentu: | article |
| ISSN: | 0301-4738 1998-3689 |
| DOI: | 10.4103/0301-4738.169791 |
| Popis: | Urbach–Wiethe syndrome or lipoid proteinosis is a rare autosomal recessive disorder characterized histologically by infiltration of Periodic acid Schiff-positive hyaline material in the skin, upper aerodigestive tract, eyelids, and internal organs. Classical clinical features include scarring of the skin, beaded eyelid papules (moniliform blepharosis) and laryngeal infiltration leading to hoarseness of voice. Lipoid proteinosis can lead to life-threatening conditions such as acute respiratory distress and seizures. Awareness among ophthalmologists about this rare entity is crucial for appropriate management of these patients. |
| Databáze: | Directory of Open Access Journals |
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