Unilateral Type of Macrodystrophia Lipomatosa of the Thumb, Index Finger, and Thenar

Kavecan, Ivana; Obrenovic, Milan; Privrodski, Boris; Kavecan, Djerdji Erdes; Golušin, Zoran

doi:10.4274/balkanmedj.2018.1322

Cited by 2 publications

(3 citation statements)

References 4 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…17 As summarized in our recent review of the world's literature (and updated for this review), we have identified 153 cases of MDL (i.e., reported using this term): 79 cases with documented LN and 74 cases that do not comment on nerve abnormality. 1,2,13,[18][19][20][21][22][23][24][25][26][27][28][29][30][31][32][33] Overgrowth was most commonly reported with LN of the median nerve at the wrist, followed by plantar nerves. The cases that did not comment on nerve involvement, however, lacked of the site of the suspected lesion, yet alone imaging proximally to the lesion.…”

Section: Observationsmentioning

confidence: 99%

“…The cases that did not comment on nerve involvement, however, lacked of the site of the suspected lesion, yet alone imaging proximally to the lesion. Thus, nerve involvement was not fully investigated 2,19,21,23,[26][27][28][29]31 and therefore nerve involvement could have been present. It has been shown that LN can demonstrate so-called skip lesions, can be subtle enough that it is missed on MRI examinations, or can involve multiple nerves and be bilateral (e.g., bilateral median nerve involvement), although the majority of LN cases reported in the world's literature affect only 1 nerve territory.…”

Section: Observationsmentioning

confidence: 99%

See 1 more Smart Citation

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

Marek

Amrami

Spinner³

2023

Journal of Neurosurgery: Case Lessons

View full text Add to dashboard Cite

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.

show abstract

Section: Observationsmentioning

confidence: 99%

Section: Observationsmentioning

confidence: 99%

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

Marek

Amrami

Spinner³

2023

Journal of Neurosurgery: Case Lessons

View full text Add to dashboard Cite

show abstract

“…It is more common in young people under the age of 30, more common in men than in women, and more common in left hands than in the right hands. And asymptomatic soft tissue swelling and related nervous lesions are the main clinical manifestations 1,2 . B-scan ultrasonography and magnetic resonance inspection are the main methods for diagnosing the disease, and clinicians will also misdiagnose it as a simple lipoma because of the rarity of this disease.…”

Section: Introductionmentioning

confidence: 99%

Fibrolipomatous Hamartoma of the Median Nerve of the Hand: A Case Report and Literature Review

Yang

et al. 2021

Preprint

View full text Add to dashboard Cite

Introduction: Fibrolipomatous Hamartoma (FLH) is a rare tumor-like disease, mainly occurs in benign tumors of the peripheral nerves of the upper limbs, which characterized by the overgrowth of neuronal fat and fibrous tissue.Case presentation: A patient had numbness of fingers in the left hand for more than 5 years. Three years ago, the superficial sensation at the metacarpophalangeal joint of the hypothenar of the left hand was weakened. Two years later, the distal ulnar side of the index finger and the distal radial side of the middle finger were secondary to weakened superficial sensation and megalodactyly symptoms of the middle finger and index finger of the left hand were developed. Physical examination showed a mass on the left palm side. MRI showed an abnormal subcutaneous fusiform signal at the palmar side of the left wrist: T1W1 isointensity, T2W1 inhomogeneous slightly hyperintense signal. The clinical features, radiologic presentations, treatment choice, and pathologic characteristic were illustrated. During the operation, the appearance of the nerve was hypertrophic and variant, without obvious masses, the proliferated fibrous tissues were showed a fusiform change, and the nerve fibers were degenerated and atrophied. Immunohistochemical results showed S-100 (+), NSE (focus +), EMA (portion +), GFAP (-), ERG (blood vessel +), SMA (blood vessel +), Ki-67 (1%+), NF (small region +). The patient's finger numbness symptom improved obviously and the condition was stable when paying a return visit 3 months after the operation. Conclusions：The clinical symptoms of FLH of median nerve mainly include gradually enlarged painless mass, macrodactyly, pain, numbness, paresthesia and carpal tunnel syndrome. The diagnosis mainly depends on ultrasonic examination and MRI. The pathological sections of FLH sometimes show perineurioma-like changes, which need to be identified by clinical and MRI features. The treatment methods include prophylactic carpal tunnel release (CTR) and nerve transplantation after the whole nerve resection. CTR, has been proven to be helpful for many patients suffering from carpal tunnel symptoms and can relieve most of the symptoms, is the main method. However, the pathogeny needs to be further explored.

show abstract

Unilateral Type of Macrodystrophia Lipomatosa of the Thumb, Index Finger, and Thenar

Cited by 2 publications

References 4 publications

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

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

Fibrolipomatous Hamartoma of the Median Nerve of the Hand: A Case Report and Literature Review

Contact Info

Product

Resources

About