3-year-old boy with complaints of swelling of 1st,2nd and 3rd toes of left foot since birth. Painless and progressively increasing in size. Neurovascular examination of the toes is normal. No skin manifestations. No pitting oedema. No familial history.
Xray (Fig 1) shows marked soft tissue proliferation of the 2nd toe, 3rd and the great toes associated with splayed and lengthened phalanges. No soft tissue calcification or focal bony mass seen. The remaining two toes appear normal. The metatarso-phalangeal and interphalangeal joints appear normal.
Xrays may show radio-lucencies in the soft tissue are characteristic of fat overgrowth. Bony overgrowth and cortical thickening may be seen.
MRI- (Fig 2 – MRI T1WI axial sequence) Marked enlargement of 2nd toe, 3rd toe and great toe in descending order of degree of involvement.
(Fig 3- MRI T1W sagittal sequence) Diffuse proliferation of fat is seen in the subcutaneous tissue appearing bright on T1 sequences. No capsule seen. The joints and ligaments of the foot and ankle are normal.
Drop of signal is seen on fat-saturated sequences.
It is a form of localised gigantism- congenital, non-hereditary benign condition and is characterized by persistent, progressive proliferation of mesenchymal components and elements, with disproportionate increase in fibro-adipose tissue. It primarily affects the upper or lower limbs, classically in median or plantar nerve territory.[2]
Patient presents with isolated enlargement of digits of upper or lower limb and are otherwise asymptomatic. Presentation is typically unilateral with involvement of one or more digits. Syndactyly or polydactyly maybe seen. No gender predilection seen.
Classified as static or progressive: A) Static: the growth of digit is in accordance with the rate of body growth. B) Progressive: Overgrowth of the digits is much faster than the other normal digits.[2]
Mostly primary reason behind seeking treatment is cosmetic. Some patients may present with arthritic changes and bony growth. Surgical treatment is intervention of choice. Maximum preservation of neurological function should be achieved by planned multiple debulking operations. [3]
Macrodactyly along with typical findings of X-ray and MRI of localised part is sufficient for diagnosis of macrodystrophia lipomatosa. [4]
Macrodystrophia lipomatosa of left foot
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Based on the provided X-ray images, the first, second, and third toes of the child's left foot are notably enlarged, showing asymmetric hypertrophy involving both soft tissues and the corresponding phalanges. Bone continuity is intact, with no visible fracture lines, and there are no marked abnormalities in the arrangement of trabeculae.
MRI images indicate a significant increase in fat-like signals within the enlarged toe soft tissues, alongside partial fibrous tissue proliferation, which is consistent with fat-fibrous tissue overgrowth. Overall, the lesion is localized to the affected toes of the forefoot, and no significant abnormal signals are observed in the surrounding skin or soft tissues.
Considering the progressive enlargement of some toes of the left foot since birth, the characteristic fatty and fibrous tissue proliferation seen on imaging, and the absence of other systemic involvement, the most likely diagnosis is: Macrodystrophia Lipomatosa (Congenital Macrodactyly).
Given that the enlarged toes currently have relatively preserved function and there are no significant neurovascular symptoms, the primary treatment objectives are cosmetic improvement and prevention of further functional impairment. Specific plans are as follows:
Rehabilitation and Exercise Prescription (FITT-VP Principle):
Within tolerable limits, to prevent foot function deterioration and support normal growth and development, moderate lower-limb functional exercises and full-body activities are recommended:
During this process, special attention should be paid to protecting foot alignment and joint mobility. If signs of foot fatigue, pain, or accelerated deformity become evident, seek medical advice promptly and adjust the exercise prescription accordingly.
This report is based solely on the provided imaging and clinical information for reference purposes and does not replace an in-person consultation or professional medical advice. If you have any questions or if the condition changes, please consult a medical professional for further evaluation and treatment.
Macrodystrophia lipomatosa of left foot