Surgical Management of Macrodystrophia Lipomatosa, a rare case report of the left hand middle finger macrodactyly

Abstract

Introduction Macrodystrophia Lipomatosa is a rare congenital non-hereditary disorder, characterized by the presence of gigantism of a small part of the limb or the whole limb due to an overgrowth and disproportionate growth of fibroadipose tissue, causing macrodactyly. Case presentation One case of the 14-year-old girl presented with an enlarged middle finger of her left hand since birth, discomfort during the last 6 months, and resistance to flex, was underwent surgery by performing debulking procedure and a yellow cord-like mass was obtained from the digital nerve covered and enlarged by fibrofatty tissue to the palm area, could be cut off completely. Imaging and histopathological examination revealed to macrodystrophia lipomatosa. We follow up the patient for the finger's range of motion, the neurological disturbance and re-enlargement of the tumor. Discussion Since there were compression of the nerves, functional impairment due to enlarge fingers and cosmesis problems, the surgery was indicated. Types of surgery may include debulking of soft tissue, especially adipose tissue. The mass size was decrease, motor function and movement of the middle finger were normal post operatively, but sensory deficits persisted according to the distribution of the digital nerves. Three months and six years after surgery, no enlargement of the middle finger, normal motor function, normal finger movements but sensory deficit still persisted according to the distribution of the digital nerves. Conclusion Surgical management in macrodactyly due to macrodystrophia lipomatosa of the finger give the satisfactory result.

Rare Case of Focal Gigantism of the Foot

“…Accordingly, theoretical explanations include lipomatous degeneration, abnormal foetal circulation, injury to the buds of the limbs, change in somatic cells throughout intrauterine life, and expansion of the pertinent nerve [ 7 ]. Despite the uncertainty surrounding the aetiology and pathophysiology of this disorder, a substantial cohort study on macrodactyly cases found a high positive rate of PIK3CA gene mutation in patients, which broadens our understanding of the molecular pathology underlying these congenital malformations [ 2 , 8 ]. In parallel with this, Wu et al reported that, with the aid of Sanger and next-generation sequencing, the PIK3CA gene mutation that causes activation was found in the afflicted adipose, nerve, and skin tissues of 10 cases [ 3 ].…”

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

“…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.…”

“… 5 , 7–12 Some authors also suggest that MDL is a separate entity from LN. 13 There are anecdotal cases of idiopathic overgrowth syndromes that were retrospectively found to have associated LN. 14 …”

“…5,[7][8][9][10][11][12] Some authors also suggest that MDL is a separate entity from LN. 13 There are anecdotal cases of idiopathic overgrowth syndromes that were retrospectively found to have associated LN. 14 We present a case of progressive lipomatous overgrowth (MDL) in a child who was misdiagnosed with neurofibromatosis type I (NF1) and who was found to have radiological evidence of occult LN of the lumbosacral plexus/proximal sciatic nerve and a PIK3CA mutation explaining the nerve-territory overgrowth.…”