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Congenital infiltrating lipoma of the upper limb in a patient with von Willebrand disease

✍ Scribed by J.M. Lasso; A. España; M.I. Zudaire; E. De Alava; A. Bazán


Publisher
John Wiley and Sons
Year
2000
Tongue
English
Weight
205 KB
Volume
143
Category
Article
ISSN
0007-0963

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✦ Synopsis


Infiltrating lipoma is a rare variety of lipoma, characterized by an infiltration of the adipose tissue of the muscles. Infiltrating lipomas are usually classified in two groups: intermuscular infiltrating lipoma and intramuscular infiltrating lipoma. Most are acquired, and they usually appear in middle-aged individuals. Exceptionally, they are congenital. In such cases they are not related to other diseases. We report an 8-year-old boy with a congenital infiltrating lipoma of the upper limb and von Willebrand disease. Both diseases are linked to an alteration in chromosome 12, but this clinical association seems to be random rather than causal.


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## Abstract Decreased von Willebrand factor (VWF)‐cleaving protease activity (<5%) has been implicated in patients with congenital thrombotic thrombocytopenic purpura–hemolytic uremic syndrome (Upshaw‐Schulman syndrome) and associated with mutations within the __ADAMTS13__ gene. In this report, we