Macrodystrophia lipomatosa

Case contributed by Marna du Toit
Diagnosis certain

Presentation

The patient presented with macrodactyly of the left-sided middle and ring fingers. Associated finding of soft tissue syndactyly of the fingers noted. No involvement of the right hand or toes.

Patient Data

Age: 5 years
Gender: Male
x-ray

Macrodactaly of the middle and ring fingers are noted. Ballooning of the distal tufts are noted. Periosteal resorption is demonstrated at the DIP of the middle finger. Syndactyly of the soft tissues noted. No evidence of soft tissue phleboliths noted. Thickening of the soft tissue of the phalanges demonstrated.

mri

This study demonstrates accumulation of fat with no clear capsule at the middle and ring fingers. No soft tissue mass identified or evidence of a vascular malformation. Widening of the diaphysis and splaying of the distal tufts are noted. No abnormal post contrast enhancement noted. No abnormal bone marrow signal demonstrated.

ultrasound

Marked thickening of the median nerve of the left wrist in comparison to the right.

Case Discussion

The patient demonstrated painless enlargement of the fingers and incidental syndactyly of the same fingers. Marked thickening of the fat tissue is demonstrated and asymmetric thickening of the median nerve is diagnostic.

How to use cases

You can use Radiopaedia cases in a variety of ways to help you learn and teach.

Creating your own cases is easy.

Updating… Please wait.

 Unable to process the form. Check for errors and try again.

 Thank you for updating your details.