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-

0 Comments

Submit a Comment

Your email address will not be published. Required fields are marked *

This site uses Akismet to reduce spam. Learn how your comment data is processed.

Cart Preview

5 Fitness Tips for Soccer Players

5 Fitness Tips for Soccer Players

Soccer is one of the most watched and followed sport around the world. Soccer is obviously has given the world many known figures like Pele, Ronaldo, Messi, Zidane, Maradona, Neymar and many more. There are many people who dream to be one of them and indulge their...

Early Risers Have Lower Risk to Develop Breast Cancer

Early Risers Have Lower Risk to Develop Breast Cancer

Recent British research, presented at the National Cancer Research Institute annual conference in the UK, suggests that women who are early risers have lower chances to develop breast cancer. To study the link between sleep habits and breast cancer, researchers...

[WpProQuiz 1]

Featured Products

The 5 Best Accessories for Sports Fans

It is very entertaining to be a sport fan. There is a big variety of sport games that are extremely interesting to follow. Moreover, it is always fun to anticipate the score and watch the enthusiasm live. One of the benefits of being sports fan is using different...

read more

Exercise May Serve as an Antidepressant

A new study of nearly 18,000 participants found that those with high fitness at middle age were significantly less likely to die from heart disease in later life, even if they were diagnosed with depression. Doctor's Tips: How to Stay Fit While Treating Depression Dr....

read more

MediGoo is attending the largest health/medical industry event in Düsseford, Germany. We welcome you to visit our stand at hall 15 booth E55. Welcome, hope to see you there 15E55.