Hapnes Boman Skeie syndrome

Hapnes Boman Skeie syndrome
This condition is inherited in an autosomal dominant manner

Hapnes Boman Skeie syndrome is a rare genetic disorder first described by Sveln Hapnes et al. in 1980. It is characterized by subcutaneous angiolipomas around the wrists, knees, and ankles.[1] It is also known as "anomalous insertion of extensor tendons of fingers",[2] a name derived 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.[1]

References

  1. 1 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.
  2. ↑ "Tendons, extensor, of fingers, anomalous insertion of". Genetic & Rare Diseases Information Center. Retrieved 2012-10-31.



Classification
External resources
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