Macrodystrophia lipomatosa of left foot

Clinical Cases 23.02.2022
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Section: Musculoskeletal system
Case Type: Clinical Cases
Patient: 3 years, male
Authors: Aishwarya Ghate, Khushvant Magare, Neeti Gupta
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Details
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AI Report

Clinical History

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.

Imaging Findings

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.

Discussion

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]

Differential Diagnosis List

Macrodystrophia lipomatosa of left foot
Neurofibromatosis
Beckwith-Wiedemann syndrome
Klippel-Trenaunay syndrome
Proteus syndrome
Lymphangiomatosis

Final Diagnosis

Macrodystrophia lipomatosa of left foot

Figures

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Radiograph: Marked soft tissue overgrowth of the first three toes with splayed and lengthened phalanges

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MRI T1W Axial sequence: Marked proliferation of fat in subcutaneous tissue with lengthened phalanges

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MRI T1W sagittal sequence: Proliferation of fat is seen in subcutaneous tissue with no discernible capsule

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MR T1w fat saturated sagittal sequence shows suppression of the proliferated subcutaneous fat tissue