Lipoid proteinosis in a 36-year-old woman: An index case from Qatar
Engy Abdelhamed, Shajitha Thekke Veettil · 2026
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Description
Engy Abdelhamed and Shajitha Thekke Veettil present in 2026 the first known case from Qatar of a rare gene disorder that lays glassy stuff in skin and organs. The disorder, lipoid proteinosis, stems from faults in a matrix gene and has fewer than 400 cases in print. Their patient, a woman aged 36, came with itchy eyelid beads and a hoarse voice held since youth.
Her tongue was broad with cobbled mouth plaques, and brain scans showed paired chalk spots deep in the brain. A scope found a child-like voice box, a fresh note for this disease. She declined gene tests and brain care despite a seizure and low mood. The case urges early, team-wide care.
Catalog record
| CREATOR | Engy Abdelhamed, Shajitha Thekke Veettil |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 11239 |
| LICENSE | https://creativecommons.org/licenses/by/4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |