| Autor: |
Valayer, Simon, Hickman, Geoffroy, Petit, Antoine, Solal, Martine Cohen, De Sandre Giovannoli, Annachiara, Bourrat, Emmanuelle |
| Předmět: |
|
| Zdroj: |
Clinical & Experimental Dermatology; Feb2024, Vol. 49 Issue 2, p206-208, 3p |
| Abstrakt: |
The article discusses a rare genetic condition called acrogeria, which is characterized by the resorption of bones in the distal phalanges. It is caused by a mutation in the LMNA gene and shares similarities with other laminopathies. The article describes a case of acrogeria in a 35-year-old woman from South Korea and highlights the clinical features and diagnostic methods used. Acrogeria is distinguished by its unique distribution of progeroid traits and the absence of widespread osteoporosis. The article emphasizes the importance of considering cardiovascular complications in patients with acrogeria. [Extracted from the article] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
|
