Macrodystrophia Lipomatosa Research Articles

A Solution for Surgical Treatment of the Combination Lipofibromatous Hamartoma and Macrodystrophia Lipomatosa: “Vascularised Digital Nerve Flap”

A 28-year-old man presented with a disproportionate enlargement of the fourth finger of the left hand since birth. This patient appeared to have a combination of lipofibromatous hamartoma and macrodystrophia lipomatosa. Surgical success was gained after elevation of a "vascularised digital nerve flap" and the distal resection. This method has not been described previously. We believe that it can be useful in selected cases.

BILATERAL MACRODYSTROPHIA LIPOMATOSA WITH SYNDACTYLY: A CASE REPORT AND LITERATURE REVIEW

Macrodystrophia lipomatosa is a rare, non-hereditary form of congenital local gigantism characterised by enlargement and hypertrophy of all mesenchymal tissue components with a disproportionate increase in adipose tissue. This form of macrodactyly has been reported in association with other anomalies including polydactyly, brachydactyly, syndactyly, and symphalangism. We describe a previously unreported case of bilateral upper extremity macrodystrophia lipomatosa with syndactyly in a 23-month-old boy. In this report, we emphasise the importance of establishing a diagnosis with imaging and review the described surgical approaches to treating this difficult condition.

Macrodystrophia lipomatosa

ObjectiveWe present a series of six cases of macrodystrophia lipomatosa (MDL) and their outcome after debulking surgery. Material and methodsThe study was conducted from 2002 to 2005; the cases are selected from outpatients department of postgraduate institute of medical education and research. The patients were in the age group of 2–5 years of age with the complaints of progressive increase in size of the toe, difficulty in walking and recurrent injury to the foot. ResultsThere were no complication in three (50%) cases but two cases (33%) had skin blackening along the suture margins, One case (16%) was under corrected. And none of the cases had recurrence. ConclusionSimple debulking surgery is sufficient for MDL.

Isolated macrodystrophia lipomatosa of the foot in a neonate

Macrodystrophia lipomatosa characterized by enlargement of one or more fingers or toes with predominantly fibroadipose tissue can be part of an overgrowth syndrome such as Proteus syndrome (Biesecker, 2006) or CLOVES syndrome (Sapp et al., 2007; Alomari, 2009) or found as an isolated abnormality in an otherwise normal patient. It maybe present at birth or occur in early infancy with a progressive course. Here, we report a case of macrodystrophia lipomatosa (MDL) diagnosed in the neonatal period in a baby who had no other apparent problems on follow-up.

Macrodystrophia Lipomatosa: A casereport

Macrodystrophia lipomatosa is a rare congenital anomaly of localized gigantism, characterized by progressive overgrowth of all mesenchymal components, particularly fibroadipose tissue. The anomaly occurs frequently in the distribution regions of the median nerve in the upper extremity and the plantar nerve in the lower extremity. It is usually noticed at birth with predominately unilateral distal involvement of the digits. The cause of this condition is still unknown. Physicians use the patient's clinical history, physical examination, and imaging techniques to diagnose the condition, with characteristic imaging findings revealing macrodactyly with hypertrophy of the soft tissue and osseous structures. This study reports the case of a 3-year-old boy with macrodystrophia lipomatosa affecting the index and middle fingers of the left hand. Clinical presentation and radiographic imaging demonstrated typical findings, as reported in previous studies, but magnetic resonance imaging and histological examination revealed dominant fibrosis, instead of the fatty tissue characteristic to the condition.

Macrodystrophia lipomatosa involving multiple nerves

Macrodystrophia lipomatosa (MDL), a rare congenital disorder, is considered by some to be a localized form of Proteus syndrome. The implication of the PTEN (phosphatase and tensin homolog deleted on chromosome 10) gene in both strengthens this belief. We present a case who had MDL in multiple nerve territories—all on the same side of the body—with hypertrophy of mainly fibroadipose tissue throughout their distribution, thus pointing to a form of localized hemihypertrophy; both hemihypertrophy and lipomatous tumors are components of Proteus syndrome.

Macrodystrophia Lipomatosa: A rare presentation

Macrodystrophia lipomatosa is a rare congenital nonhereditarymesenchymal hamartomatous malformation resulting in localized gigantism of parts of extremities that manifests clinically as macrodactyly or megalodactyly. Radiological and Pathological hallmark is the disproportionate fibroadipose tissue proliferation in subcutaneous tissue, nerve sheaths, and periosteum that leads to soft tissue and bony enlargement. As imaging is the key to early diagnosis, findings on various modalities like plain radiographs, CT scan and MRI are highlighted here.

Macrodystrophia Lipomatosa: Radiologic-Pathologic Correlation

Macrodystrophia lipomatosa (MDL) is a rare cause of congenital macrodactyly, characterised by progressive proliferation of all mesenchymal elements, with disproportionate increase in fibro-adipose tissue. It occurs most frequently in lower limbs along the distribution of the medial plantar nerve. MDL presents as localised gigantism of the hand or foot and comes to clinical attention for cosmetic reasons, mechanical problems secondary to degenerative joint disease, or development of neurovascular compression. Here, we report a case of MDL, with altered soft tissue growth due to an earlier surgery, making clinical diagnosis difficult. However, with a complete radio-clinical work-up and review of the history, a provisional diagnosis of MDL was made, which was confirmed by histopathology and during surgery.

Fibrolipomatous hamartoma of the digital branches of the median nerve

Fibrolipomatous Hamartoma is an idiopathic disorder which may be related to hypertrophy of mature fat cells and fibroblasts in the epineurium. It is a rare condition most commonly affects the median nerve. Presentation is usually before 30 years of age.Some of them are presented with signs and symptoms of nerve entrapment and some are associated with macrodactyly (macrodystrophia lipomatosa) with gross cosmetic abnormality. MRI can be an important preoperative diagnostic tool. Biopsy and histopathology report can confirm the pathology.This report describes a case of Fibrolipomatous Hamartoma of the digital branches of left index and middle fingers of median nerve associated with macrodactyly. A 25-year old male patient having this problem came to Apollo Hospitals Dhaka with abnormally large left index and middle finger. Debulking by excision of the lipomatous tissue along the digital branches of median nerve was performed. Three weeks postoperatively, the patient had no major complaints and the mass decreased in size without any motor or functional losses. Sensory function also found near normal with a small area of numbness at the tip of the left index finger.DOI: http://dx.doi.org/10.3329/pulse.v4i1.6967Pulse Vol.4 January 2010 p.40-42

Macrodactyly of the right ring finger due to macrodystrophia lipomatosa: Pathologic and imaging characteristics

Macrodactyly of the right ring finger due to macrodystrophia lipomatosa: Pathologic and imaging characteristics

Macrodystrophia lipomatosa – MR imaging of a rare congenital anomaly: review of 3 cases

Macrodystrophia lipomatosa (MDL) results from progressive overgrowth of all the mesenchymal elements, with a disproportionate increase in fibro-adipose tissue. This rare congenital abnormality occurs most frequently in the distribution of the median nerve in the upper, and medial plantar nerve in the lower, extremity.
 
 Excess of unencapsulated fibro-adipose tissue on magnetic resonance imaging (MRI) is virtually diagnostic and can differentiate this entity from other diseases with similar presentations. Involvement of the ulnar aspect of the hand, though rare, has been described; however, the lateral aspect of the foot as seen in our second case has not been reported, to the best of our knowledge.

Macrodystrophia lipomatosa: four case reports

AimMacrodystrophia lipomatosa is a rare cause of gigantism of limb which can be confused with other common causes like congenital lymphedema. It presents usually with loss of function and cosmetic problems. Four cases are described with emphasis on clinical presentation, differential diagnoses, imaging and treatment options.Methods & ResultsFour patients of macrodystrophia lipomatosa were thoroughly examined and subjected to investigations.ConclusionBesides diligent clinical examination, imaging and histopathology are crucial in clinching the diagnosis.

MRI Diagnosis of Fibrolipomatous Hamartoma of the Median Nerve and Associated Macrodystrophia Lipomatosa

Fibrolipomatous hamartoma is an uncommon congenital disorder, which is characterized by disproportionate hyperplasia of adipose tissue infiltrating along the perineurium, the epineurium and the affected nerve trajectory. We present a case of combined fibrolipomatous hamartoma and macrodystrophia lipomatosa of the median nerve. The involved sites included the left palm, wrist and forearm. Part of the patient's middle finger had been amputated due to previous macrodystrophia lipomatosa; however, the lesion continued to enlarge and was accompanied by numbness. Magnetic resonance imaging demonstrated a typical fibrolipomatous hamartoma with high signal intensity of fat on both T1-weighted and T2-weighted images, characteristic coaxial cable appearance on axial images, and spaghetti appearance on sagittal images. A similar skipped lesion at the median nerve of the middle forearm was also noted. To the best of our knowledge, this has not been reported in the English literature.

Imaging of a rare disorder: macrodystrophia lipomatosa

Macrodystrophia lipomatosa (MDL) is described as a rare, non-hereditary, congenital condition presenting with localized macrodactyly and a proliferation of mesenchymal elements. There is in particular a marked increase in fibroadipose tissue(1).
 
 We describe two cases presenting to our department in a six month period, with a history of disproportionately large limbs since birth. While our first case demonstrated all the typical features of MDL, our second case failed to demonstrate osseous gigantism although the other features of MDL were present. An extensive search of the literature failed to yield any cases described without osseus gigantism but at the same time the other radiological features failed to fit in with any other related syndromes and the most appropriate diagnosis appears to be MDL. Thus we concluded that this may be a case of a rare, atypical MDL that was arrested or frustrated and therefore failed to demonstrate full expression of the syndrome.

Radiological profile of a neglected case of Macrodystrophia Lipomatosa of the foot

Macrodystrophia Lipomatosa is a rare disorder characterized by three-dimensional enlargement of one or more fingers or toes with predominantly fibro adipose tissue. Macrodystrophia Lipomatosa is usually diagnosed during childhood. In this case, we will discuss the radiological findings in the neglected case of a 45 year female with macrodystrophia lipomatosis.

Macrodystrophia Lipomatosa with Multiple Entrapment Neuropathies: A Case Report

Macrodystrophia lipomatosa is a rare nonhereditary congenital malformation that mainly affects mesenchymal structures. The pathology is associated with hypertrophic fibro-adipose tissues. One or more of the digits of the extremities are affected. This condition is previously described as macrodactyly, megalodactyly, or localized gigantism. This article describes a 48-year-old male patient who presented with the enlargement of unilateral (right) lower limb, especially of the first toe and tarsal tunnel syndrome. Although there is no clinically significant involvement of the upper extremities, bilateral cubital and unilateral carpal tunnel syndromes were also detected and macrodystrophia lipomatosa with multiple entrapment neuropathies was diagnosed in the patient.

Macrodystrophia Lipomatosa; Macrodactyly Related to Affected Nerves, and a Review of the Literature

Macrodystrophia lipomatosa (ML) is a rare disease causing congenital local gigantism of part of an extremity mostly through proliferation of fibro-adipose tissue. This study is one of few that specifically describe 8 ML patients with histological confirmation of the diagnosis combined with the 79 histologically confirmed cases already described in the literature. The goals of this study are to describe this malformation by using only histologically confirmed cases, to offer some insight on current opinions on ML by reviewing the histologically confirmed cases described in the literature, and to make the postulation of autonomic nerve dysfunction as the aetiology of ML more plausible.

Magnetic resonance imaging of a case of monomelic macrodystrophia lipomatosa

Macrodystrophia lipomatosa is a rare form of non-hereditary congenital localized gigantism. Radiographs and magnetic resonance imaging of one such case in a 3-year-old girl is presented in which the entire right-lower limb was affected. Radiographs revealed excessive soft tissue hypertrophy and exostoses-like bony overgrowth from the metatarsals. Magnetic resonance images showed excess unencapsulated fatty proliferation and fatty infiltration of the involved muscles.

Macrodystrophia lipomatosa extending into the upper abdomen

We report a case of macrodystrophia lipomatosa in an infant with extension of hypertrophied fatty tissue into the abdomen and abdominal wall. The patient not only presented with typical limb abnormalities but also an abdominal mass. We reviewed the literature on the subject, and believe that our case is rare because the hypertrophied lipomatous tissue extended into the abdomen.

Long-Term Follow-up of Progressive Macrodystrophia Lipomatosa

Macrodystrophia lipomatosa is a rare form of congenital localized gigantism that is characterized by slowly progressive overgrowth of the mesenchymal elements, especially the fibroadipose tissue, in a limb1-3. The abnormal tissue is often found along the median nerve in the hand and the plantar nerves in the foot4,5. No causal link between hamartoma of a nerve and soft-tissue enlargement has been established, and evidence of nerve involvement is controversial. We report on two cases of macrodystrophia lipomatosa that caused progressive proximal enlargement along the posterior aspect of the left lower limb in one patient and along the anterior portion of the left upper limb in another. Our search of the literature revealed only one other previously reported case of such progressive enlargement, which was in a purely preaxial distribution6. Both of our patients were informed that information regarding their cases would be submitted for publication. Case 1. A four-month-old girl presented to the clinic with enlarged second and third toes on the left foot. The condition had been present at birth. The mother's pregnancy had been full term and unremarkable. There was no family history of limb malformations or neurofibromatosis. The patient was otherwise healthy and had a normal examination except for very enlarged second and third toes. Radiographs revealed increased soft-tissue density and enlargement of the second and third phalanges and metatarsals (Fig. 1-A). Resection of the second and third rays was performed when the patient was six months of age. Histologically, the resected specimens were enlarged but were otherwise normal in structure and had excessive amounts of normal-appearing adipose tissue. Postoperatively, the foot was noted to be similar in width and height to the contralateral, uninvolved foot. By three months after the operation, the mother noted enlargement …