Macrodystrophia lipomatosa


Macrodystrophia lipomatosa

Description, Causes and Risk Factors:

Abbreviation: ML.

A rare nonfamilial disease characterized by enlargement of the fingers by lipomas, with painful degenerative arthropathy of the metacarpophalangeal and interphalangeal joints.

Macrodystrophia lipomatosa is a rare congenital anomaly characterized by an abnormal overgrowth of the mesenchymal elements resulting in gigantism of single or multiple digits or the entire limb. Sometimes it may have bilateral involvement of the limbs. Although there have been only few anecdotal reports of involvement of entire limb and even the abdominal wall involvement has been reported. The age of presentation is in consistent and the clinical findings can be recognized as early as in the neonatal period to late adulthood. Although there is no gender predilection, slight male preponderance is seen. The overgrowth appears to develop in a specific sclerotome region of the body. Generally, the lateral aspect of the upper limb (i.e. along the median nerve distribution) and the medial aspect of the lower limb (i.e. along the plantar nerve distribution) are affected. Distal limb involvement is seen predominantly. The lower limb is more often involved than the upper limb and the 2nd and 3rd digits are more commonly affected. The affected region continues to grow only until puberty at which time it reaches a plateau.

Exact etiology is not known. However there are many hypothesis suggesting that it is due to fibrofatty tumors impinging on nerves supplying the enlarged digit or due to alteration of somatic cells during limb bud development. It is now believed to be a part of generalized hamartomatous disorder known as proteus syndrome.

Macrodystrophia lipomatosa is a congenital anomaly but it is certainly not a hereditary disease. Various hypotheses have been proposed regarding the etiopathogenesis of ML. These include lipomatous degeneration, fetal circulation abnormality, and damage of extremity bud and errors in the segmentation in intrauterine life and hypertrophy of the concerned nerve. The gamut of nomenclature, as given by different authors, produces considerable confusion regarding the exact terminology and also difficulty in setting up the criteria for diagnosing the disease especially vis-

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