Medicine:Hapnes Boman Skeie syndrome
From HandWiki
| Hapnes Boman Skeie syndrome | |
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| Other names | Extensor tendons of finger anomalies[1] |
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| 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
- ↑ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Extensor tendons of finger anomalies" (in en). https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3294.
- ↑ 2.0 2.1 2.2 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.
- ↑ "Tendons, extensor, of fingers, anomalous insertion of". Genetic & Rare Diseases Information Center. http://rarediseases.info.nih.gov/GARD/Condition/2597/Tendons_extensor_of_fingers_anomalous_insertion_of.aspx.
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