Hapnes Boman Skeie syndrome is a rare

genetic disorder A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosomal abnormality. Although polygenic disorders ...

in which subcutaneous

angiolipoma Angiolipoma is a subcutaneous nodule with vascular structure, having all other features of a typical lipoma. They are commonly painful.James, William; Berger, Timothy; Elston, Dirk (2005). ''Andrews' Diseases of the Skin: Clinical Dermatology''. ( ...

s form around the wrists, knees, and ankles. The syndrome was first described by Sveln Hapnes et al. in 1980. Hapnes Boman Skeie syndrome is also known as "anomalous insertion of extensor tendons of fingers". This name derives from the condition that the

tendon A tendon or sinew is a tough, high-tensile-strength band of dense fibrous connective tissue that connects muscle to bone. It is able to transmit the mechanical forces of muscle contraction to the skeletal system without sacrificing its ability ...

s 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 Muscle tissue (or muscular tissue) is soft tissue that makes up the different types of muscles in most animals, and give the ability of muscles to contract. Muscle tissue is formed during embryonic development, in a process known as myogenesis. Mu ...

joint A joint or articulation (or articular surface) is the connection made between bones, ossicles, or other hard structures in the body which link an animal's skeletal system into a functional whole.Saladin, Ken. Anatomy & Physiology. 7th ed. McGraw ...

s, and tendons, the tumors did not invade these structures.

References

External links

{{DEFAULTSORT:Stimmler Syndrome Genetic diseases and disorders Rare syndromes