Cowden syndrome–like phenotype with lymphangioma circumscriptum and an APC variant of uncertain significance
Fatma Omar Al Hosni, Thuraiya Hilal Al Rumhi · 2026
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Description
Fatma Omar Al Hosni and Thuraiya Hilal Al Rumhi present a 2026 case that fits Cowden syndrome on exam yet lacks its usual gene fault. Cowden syndrome raises the risk of growths and cancers and is most often tied to the PTEN gene. Their patient, a woman aged 35, showed crowded teeth, cobbled gums and tongue, and flat warts on her face.
Gene tests found no PTEN fault, only a change of unclear meaning in the APC gene, so no firm gene label could be set. She also grew a rare skin growth of lymph vessels, said to be a first in such a setting. The case warns that a classic exam picture can hide an unsolved gene story.
Catalog record
| CREATOR | Fatma Omar Al Hosni, Thuraiya Hilal Al Rumhi |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 11349 |
| LICENSE | https://creativecommons.org/licenses/by/4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |