Macrodystrophia lipomatosis

Macrodystrophia lipomatosis is a localized gigantism of fingers or toes. Predominantly fibroadipose tissue produced in association with arteriovenous fistulas or localized hyperplastic vascular and lymphatic elements. Can be associated with neurofibromatosis type I or Klippel Trenaunay syndrome. Radiographically, it appears as hypertrophy of soft tissues and bones. The pathologic findings are infiltration and hypertrophy of adipose tissue in subcutaneous tissue, nerve sheaths, and periosteum. Macrodystrophia lipomatosa is usually diagnosed during childhood.

The exact mechanism causing Klippel-Trénaunay-Weber Syndrome is not known. A mesodermal defects affecting angiogenesis and associated with persistent of the embryonic vascular network might explain the vascular anomalies.

Some believe that a disturbance in the regulation of tissue growth factors is the underlying mechanism.

References

* Bailey EJ, Thompson FM, Bohne W, Dyal C. [http://www.ncbi.nlm.nih.gov/pubmed/9043881 Macrodystrophia lipomatosa of the foot: a report of three cases and literature review] . Foot Ankle Int. 1997 Feb;18(2):89-93.