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Multiple symmetrical lipomatosis is a striking clinical finding associated with a variety of peripheral and central nervous system abnormalities. We describe 4 unrelated patients with evidence of mitochondrial dysfunction in skeletal muscle. Multiple symmetrical lipomatosis is an additional, albeit unusual, manifestation of the expanding clinical spectrum of mitochondrial diseases.
Multiple symmetric lipomatosis (MSL) is a rare disorder only mentioned in about 200 cases in the medical literature. It manifests as massive lipomatous deposits in specific areas of the body. The cause is unknown, although there frequently is a history of alcoholism. Surgical lipectomy has so far been the choice of treatment. We present a review of the disease and report one case successfully treated with liposuction.
Multiple Symmetric Lipomatosis (MSL or Madelung's Disease) is a rare entity characterized by the presence of non-capsulated lipomas mainly located at the neck and upper part of the thorax and frequently associated to chronic hepatopathy, neuropathy and alcoholic habit. We review and update the clinical, etiopathogenic, diagnostic and therapeutical aspects of this rare entity. We stress the presence of neuropathy, a typical feature of the disease, which has also a predictive value.
Multiple symmetric lipomatosis (MSL) is an extremely uncommon disorder. In the medical literatures about 200 cases have been reported. MSL is not associated with other generalized lipomatous disorders, nor are these patient to be necessarily obese. The cause of MSL is unknown. The disorder usually occurs in middle-aged males and there is frequently a history of alcoholism. Some instances of familial occurrence have been reported, but the majority of cases are sporadic. Two cases of MSL are presented.
Multiple symmetrical lipomatosis is a rare disorder characterized by progressive anomalous deposition of fat typically located in the neck and shoulders. Magnetic resonance imaging allows exact definition of the abnormal fatty tissue and the involvement of deep structures. We describe the MR findings in two patients with the typical fat deposition in the neck and upper thorax which also presented unusual location of abnormal fat. One patient had laryngeal involvement with fatty infiltration of true and false cords. The other patient had inguinal and scrotal large deposition of fat.
Multiple symmetric lipomatosis (MSL) is a rare disorder of middle life characterized by large subcutaneous fat masses around the neck, shoulders and other parts of the trunk. Peripheral neuropathy is a common finding in these predominantly male patients. Employing electrophysiological measures, we found additional signs of central nervous system involvement in a majority of patients. Etiologically, there is an association with mitochondrial dysfunction. In muscle biopsy, we found ragged red fibers in 8 of 12 patients. Molecular genetic analysis revealed multiple deletions of mitochondrial DNA in one patient and the MERRF mutation at nucleotide 8344 in another. In this review, we summarize our clinical, electrophysiological morphological, biochemical and molecular genetic findings in 17 MSL patients, and give a survey of the literature.
Six lipomas from patients affected by Multiple Symmetric Lipomatosis (MSL) and by Multiple Endocrine Neoplasia Type 1 (MEN 1) were analyzed for loss of heterozygosity on chromosome 11 region q12-13 using four RFLPs. Allelic loss for the D11S146 locus was found only in one visceral MEN 1-associated lipoma. Lipomas that exhibited a lack of allelic lesions were analyzed for an eventual abnormal amount or a defective function of the Gs protein by studying the Gs alpha subunit gene, codons 201 and 207, by PCR and TGGE techniques. All the samples were negative for activating mutations.
BACKGROUND: Multiple symmetric lipomatosis (MSL) is a rare disease characterized by enlarging, symmetric, nonencapsulated, fat deposits mainly on the neck and upper trunk. Liposuction and lipectomy, although palliative, are the treatments of choice, especially indicated when vital structures are compromised. OBJECTIVE: Our purpose was to evaluate the efficacy and safety of liposuction and lipectomy in the treatment of MSL. METHODS: We have examined two patients diagnosed with MSL who presented with symptoms derived from the compression of vascular, nervous, and/or respiratory tract structures. One was treated with lipectomy and the other with liposuction. RESULTS: A rapid resolution of the clinical symptoms was achieved with both therapies. The patient who was treated with lipectomy suffered from a compression of the left brachial plexus by scar tissue as an adverse effect, requiring a second surgical procedure. Liposuction only provoked a mild autoinvolutive hematoma in the other case. No clinical recurrences were observed at 3 and 2 years of follow-up respectively. CONCLUSIONS: We consider both lipectomy and liposuction as safe and effective techniques for the treatment of MSL patients. Although liposuction is usually associated with less adverse effects than lipectomy, location of the lipomas must be carefully considered before choosing one technique over another.
Multiple Symmetric Lipomatosis (MSL) is a rare disorder of lipid metabolism which is mainly seen in Mediterranean and eastern European populations, which results in massive fat accumulation mainly around the neck and back. The main differential diagnosis lies between MSL and the fat accumulation of Cushing's disease, and liposarcoma. This case demonstrates that MR imaging is a valuable aid to the diagnosis and treatment of this disease by giving excellent definition of soft tissue and vascular structures, allowing accurate assessment and preoperative planning of the disease.
We present a case of multiple symmetric lipomatosis Type I (Madelung's disease) with severe organic affection, hepatic cirrhosis, sever sensitive polyneuropathy and neuropathic ulceration at the left lower limb. A nephrotic syndrome developed in a larval form due to proliferative glomerulonephritis as the result of a metainfectious complications of the infection at the lower limb. We discuss the etiopathogenicity of the organic affection and we highlight the pathogenic links between the disease and its complications.
Multiple symmetric lipomatosis (MSL) (or Madelung's disease or Launois-Bensaude syndrome) is a rare inherited disease clinically characterized by a massive development of large symmetric unencapsulated lipomas on the subcutaneous tissue of face, neck, trunk and arms, resulting in a grotesque aspect of the patient. Less frequently the accumulation of excessive fatty tissue can spread deeply to the superficial fascia. Peripheral neuropathy, macrocytic anemia and chronic hepatopathy have been reported to cohesist. Macrocytic anaemia and chronic hepatopathy are probably secondary to high alcohol consumption, that is frequently associated. MSL, that was first described by Sir Benjamin Brodie in 1846, affects mainly the men (ratio man/woman 30:1), with an incidence in Mediterranean area of 1:25.000 men; the ages at onset range from 20 to 50 years. It is not known yet the pathway of inheritance and the molecular basis of the genetic defect responsible for the development of fat accumulation. It has been postulated a defective lipolytic response to catecholamines; this altered response could be due to an abnormal amount or a defective function of Gs-protein, the coupler between beta-adrenergic receptors on the surface of adipocytes and adenylate cyclase, or, alternatively, the defect could be in the catalytic unit of adenylate cyclase. The number and function of alpha- and beta-adrenergic receptors and the lipolytic response to cAMP (the second messenger) are normal. Recently it has been hypothesized that the defective lipolysis is due to a disorder in the mitochondria of brown fat, whose distribution is similar to the peculiar position of the lipomas in this pathology; the brown fat, unlike white adipose tissue, has abundant mitochondria. The alcohol abuse, frequently present in these subjects, might facilitate the clinical expression of the molecular defect. The therapy of lipomas is essentially surgical, but this approach is not easy, because the lipomas are not capsulated and extremely vascularized. Moreover the surgical excision is not always a successful treatment for the lipomas as they frequently recurrent after a short period from the exeresis. In this report we describe a 59-years old white man, alcohol abuser, with a typical clinical picture of MSL, developed when he was 37 years old. The patient presented multiple lipomas around the shoulders, face, neck and arms, that had been surgically excised eight times. Magnetic resonance imaging showed the presence of fat deposits also in the mediastinum, that caused a tracheal compression. Hepatic cirrhosis and serious side effects from peripheral neuropathy, represented by Charcot's joint and neuropathic ulcer on the sole foot were observed.(ABSTRACT TRUNCATED AT 400 WORDS)
Multiple symmetric lipomatosis is a fascinating disease of uncertain etiology that manifests as massive lipomatous deposits in specific areas of the body. The clinical syndrome and possible pathogenesis are discussed. Classic surgical lipectomy has been the only treatment thus far reported; we report a patient successfully treated with liposuction.
Multiple symmetric lipomatosis (MSL) is characterised by nonencapsulated localised lipomatous accumules (type I) or diffused (type II). There is a high incidence in Mediterranean males with high alcohol intake. The biochemical blood alterations described are similar to those related to alcoholism or chronic hepatopathy. The disease can be associated with demyelinating peripheric or autonomic neuropathy and in MSL type I with mediastinal findings of 5 patients suffering from MSL type I, comparing them with the cases in the literature and insisting on the participation of alcoholism (early onset, important amount, and long-term habit) in the etiology of MSL and its contribution to the developing of neuropathy and abnormalities of lipidic metabolism.
Multiple symmetrical lipomatosis (Madelung's disease) is a very rare condition that is commonest in countries bordering the Mediterranean. The disease is associated with symmetrical unencapsulated fat deposits over the neck and upper trunk. We present the first reported occurrence in the Chinese. Although lesions can initially mimic a head and neck malignancy, management is essentially symptomatic, with conservative removals done as indicated clinically or for cosmesis.
BACKGROUND: Multiple symmetric lipomatosis (MSL) is a rare disorder that is characterized by abnormal adipose tissue growth mainly at the neck, abdominal wall, back, shoulder girdle, and arms. A suggested mechanism for accumulation of adipose tissue is a defect in the lipolytic pathway of fat cell. OBJECTIVE: To evaluate the clinical, morphologic, and biochemical findings in Korean patients. METHOD: A total of 32 patients with MSL were evaluated retrospectively. Ten patients were seen at our hospital. The remaining 22 patients from literature were reviewed. Biochemical analyses and neurologic studies were performed. RESULTS: All cases were a sporadic form of MSL. The age of onset ranged from 26 to 70 years (mean of 49.4 years). The male-to-female ratio was 31:1. All but two patients were alcoholics with a daily intake of more than 80 g of alcohol for at least 10 years. In metabolic studies of 17 patients, a Fredrickson type IIb or IV hyperlipoproteinemia was found in three patients. High-density lipoprotein cholesterol values were higher in three patients. A glucose tolerance test was abnormal in five patients. A high prevalence of neurologic abnormalities was observed. Clinical signs of peripheral neuropathy were present in 11 of 13 patients. Central nervous system involvement was found clinically in 3 of 13 patients. CONCLUSION: The surgical removal of the fatty tissue and abstinence from alcohol are essential for relieving the patients from functional impairment. Not only metabolic studies of lipid abnormalities but also a complete neurologic examination were required in order to improve the quality of life in MSL patients.
Multiple symmetrical lipomatosis (Madelung's disease) is a rare disease with multiple symmetrical unencapsulated fatty accumulation diffusely involving the neck, the shoulders and the upper extremities (Kohan et al. Otolaryngol. Head Neck Surg. 1993;108:156-159). We describe a 48-year-old Japanese man with a history of alcoholism and liver cirrhosis who reported gradually enlarging masses in his cervical region for 4 years. MRI revealed large masses suggesting lipomas in the neck. The patient underwent a two-stage lipectomy. This patient is the 13th case reported in Japan since 1978, though over 200 cases have been reported since 1846 in Europe, most of them from the Mediterranean (Kitano et al. ORL 1994;56:177 180; Kaku et al. Endocrinol. Diabetol. 1997;4:103-106).
Multiple symmetrical lipomatosis (Madelung's disease) is a rare disease of undetermined cause characterized by symmetrical deposits of non-encapsulated fat on the suboccipital area, cervical area, shoulders and trunk. The patients are usually middle-aged male alcoholics. The treatment is palliative surgical removal of excess fat from the neck and paracervical regions or any other lesion sites. Oriental report about multiple symmetrical lipomatosis (MSL) is very rare. Here a case of multiple symmetrical lipomatosis in a 43 year-old man is described. We describe his clinical course and review the literature.
The pathogenesis of multiple symmetric lipomatosis (MSL) is as yet unknown; however, some studies seem to indicate the neoplastic nature of this lesion. In this study we have examined the ultrastructural features of the adipocyte precursors of patients with MSL. The cells were isolated by collagenase, cultured, and then examined at the moment of their confluence in a monolayer. Their ultrastructural features were compared with those of cells of the abdominal subcutaneous adipose tissue taken from patients with nonsystemic, surgically treated illnesses. When examined immediately after isolation, the cells from normal tissue did not show significant differences from MSL cells. In culture, however, MSL grew more quickly into a monolayer and showed numerous nuclear pockets and cytoplasmic microfilaments, which were not seen in cells from normal tissue. These differences appear compatible with the neoplastic nature of the MSL adipocyte precursors.