Hapnes Boman Skeie syndrome
| Hapnes Boman Skeie syndrome | |
|---|---|
| Other names | Extensor tendons of finger anomalies[1] |
 | |
| This condition is inherited in an autosomal dominant manner | |
Hapnes Boman Skeie syndrome is a rare genetic disorder in which subcutaneous angiolipomas form around the wrists, knees, and ankles.[2] The syndrome was first described by Sveln Hapnes et al. in 1980. [2]
Hapnes Boman Skeie syndrome is also known as "anomalous insertion of extensor tendons of fingers".[3] This name derives from the condition that the tendons of the fingers are attached in such a way that the fingers cannot open or close normally. Though the tumors extend deeply into the muscle tissue, joints, and tendons, the tumors did not invade these structures.[2]
References
[edit]- ^ "Orphanet: Extensor tendons of finger anomalies". Orphanet. Retrieved 2024-05-10.
- ^ a b c Hapnes, Sveln A.; Boman, Helge; Seele, Sverre O. (March 1980). "Familial angiolipomatosis". Clinical Genetics. 17 (3): 202–208. doi:10.1111/j.1399-0004.1980.tb00133.x. PMID 7363507. S2CID 12632218.
- ^ "Tendons, extensor, of fingers, anomalous insertion of". Genetic & Rare Diseases Information Center. Retrieved 2012-10-31.
External links
[edit] | This genetic disorder article is a stub. You can help Wikipedia by expanding it. |