Macrodystrophia lipomatosa

Case contributed by Dr. Kajal Limbad
Diagnosis almost certain


Painless enlargement of middle finger of right hand

Patient Data

Age: 2 years
Gender: Female

Radiograph of both hands shows marked hypertrophy of right second and third digit with enlarged and splaying of phalanges. No evidence of soft tissue calcification or focal osseous mass. The overlying soft tissues are markedly overgrown. There are focal lucent areas representing fat within the soft tissues.

Left hand appears normal.

Case Discussion

Macrodystrophia lipomatosa is a rare form of localized gigantism. It is a non-hereditary isolated developmental anomaly, which results in overgrowth of all mesenchymal elements such as bones, fat, phalanges, tendons, nerves, and vessels. The growth of affected parts usually ceases at puberty.

This condition typically presents with painless enlargement of the 2nd or 3rd digit of the hand or foot.  It is usually unilateral but may involve adjacent digits in the distribution of the median or plantar nerves. Occasionally it involves the entire limb.

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