Macrodystrophia lipomatosa of the foot

Malla, Sundeep; Razik, Abdul; Das, Chandan Jyoti

doi:10.1136/bcr-2019-229464

Cited by 3 publications

(10 citation statements)

References 6 publications

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“…The enlargement is generally unilateral and is seen more frequently in the lower limbs, particularly along the plantar nerve distribution 1 . There is typically no family history and systemic involvement is not seen 4 . Progressive and fixed phenotypes have been described 1 …”

Section: Figurementioning

confidence: 99%

“…Diagnosis of MDL is often suspected clinically and confirmed radiologically. Multiple radiological techniques can be used with different advantages 4 . Radiography is accessible to most physicians and can identify bone and soft tissue changes, including hyperostosis and degeneration due to altered biomechanics 4 .…”

Section: Figurementioning

confidence: 99%

“…Multiple radiological techniques can be used with different advantages 4 . Radiography is accessible to most physicians and can identify bone and soft tissue changes, including hyperostosis and degeneration due to altered biomechanics 4 . MRI can detect adipose tissue expansion, which is unencapsulated and can be appreciated as globular lucencies.…”

Section: Figurementioning

confidence: 99%

“…MRI can detect adipose tissue expansion, which is unencapsulated and can be appreciated as globular lucencies. MRI is also particularly useful at determining expansion of the fibroadipose tissue of the nerve sheath 4 . Computed tomography can be applied to further delineate osseous changes.…”

Section: Figurementioning

confidence: 99%

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Macrodystrophia lipomatosa of the left hallux

2021

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Section: Figurementioning

confidence: 99%

Section: Figurementioning

confidence: 99%

Section: Figurementioning

confidence: 99%

Section: Figurementioning

confidence: 99%

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Macrodystrophia lipomatosa of the left hallux

2021

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“…Macrodystrophia lipomatosa is a rare nonhereditary developmental malformation that mainly affects bro-adipose tissue manifesting as a form of gigantism affecting one or more digits of the hand or foot [1,2] . In 1925, it was rst described by Feriz as localized gigantism of the lower limb [3] .…”

Section: Introductionmentioning

confidence: 99%

Macrodystrophia Lipomatosa Extending Into the Abdominal Wall and Breast: A Case Report

Liu

Sun

Liang

et al. 2020

Preprint

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BackgroundMacrodystrophia lipomatosa is a rare nonhereditary congenital gigantism, characterized by overgrowth of mesenchymal and fibro-adipose tissue, affecting one or more digits of the extremities. Here, we report a rare case of macrodystrophia lipomatosa of the entire right lower limb with extension of hypertrophied fatty tissue into the abdominal wall and breast. Case presentationA 32 years old woman was born with abnormally elongated and thickened right leg, and the condition aggravated gradually. The disease was multiple, including the right leg, right abdominal wall, and the left breast were also involved. The patient mainly complained that she was unable to walk but with the knee flexed. Physical examination revealed that the elongation and thickening was proportional to the left leg, and the involved joints were malformed and dysfunction. X-ray and Computed tomography angiography (CTA) showed the bones and vessels were elongated and thickened, and the joints were hypertrophic and swollen. Amputation, volume reduction and liposuction was performed on the lesions. Histological examination could see abnormal fibro-fatty tissue hyperplasia, the adipocytes were invasive, and part of muscles presented fat degeneration. The lesions showed no recurrence for one year after surgery.ConclusionAfter reviewing the literature of the macrodystrophia lipomatosa, we believed that our case was rare because the hypertrophied fatty tissue extended into the abdominal wall and breast, which was different from former studies and had not been documented worldwide. This novel case will further deepens the understanding of this disease, and will be useful for clinicians in diagnosing it.

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Occult lipomatosis of the nerve as part of macrodystrophia lipomatosa: illustrative case

Marek

Amrami

Spinner³

2023

Journal of Neurosurgery: Case Lessons

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BACKGROUND Macrodystrophia lipomatosa (MDL) is characterized by progressive overgrowth affecting soft tissues and bony structures and is part of lipomatous overgrowth syndromes. MDL has been associated with lipomatosis of the nerve (LN), an adipose lesion of nerve that has a pathognomonic magnetic resonance imaging (MRI) appearance as well as a mutation in the PIK3CA gene. The authors present a case of occult LN in the setting of MDL. OBSERVATIONS A 2-year-old boy with progressive soft tissue overgrowth of his proximal right lower extremity was initially diagnosed with neurofibromatosis type 1 (NF1). At our institution, NF1 as well as other overgrowth syndromes including PTEN hamartoma tumor syndrome were excluded. He was diagnosed as having so-called MDL. Upon reinterpretation of the patient’s MRI studies, short-segment LN involving the proximal sciatic nerve and part of lumbosacral plexus was identified. He underwent 2 debulking/liposuction procedures for soft tissue overgrowth. Genetic testing of tissue revealed a mutation in PIK3CA. LESSONS Thorough clinical examination (for signs of overgrowth) as well as an MRI study of the entire neural pathway is a critical part of the diagnostic workup to evaluate for LN. The authors believe that an increasing association of LN, even when occult, will emerge that will explain many cases with marked nerve-territory overgrowth.

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Macrodystrophia lipomatosa of the foot

Cited by 3 publications

References 6 publications

Macrodystrophia lipomatosa of the left hallux

Macrodystrophia lipomatosa of the left hallux

Macrodystrophia Lipomatosa Extending Into the Abdominal Wall and Breast: A Case Report

Occult lipomatosis of the nerve as part of macrodystrophia lipomatosa: illustrative case

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