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Madelung's disease or benign symmetric lipomatosis is rare. Symmetric lipomatosis of the tongue as an association of Madelung's disease is very rare; up to now only two cases of this association have been reported. We report the third case of Madelung's disease with involvement of the tongue in the form of macroglossia.
Hereditary predisposition to lipomas is observed in familial multiple lipomatosis (OMIM 151900) and benign cervical lipomatosis (OMIM 151800) and can also be associated with mutations in the MEN1 and PTEN genes (OMIM 131100 and 153480, respectively). In addition, a recent report indicates that a few patients with hereditary retinoblastoma also have lipomas. Here we report on an extended family segregating a splice site mutation in the RB1 gene. Almost all adult carriers of this mutation had multiple lipomas while penetrance for retinoblastoma was incomplete. In an unrelated pedigree, which was reported previously, the identical mutation was only associated with low-penetrance retinoblastoma but not lipomas. Our data indicate that lipoma predisposition in hereditary retinoblastoma is not associated with specific RB1 gene mutations but is influenced by modifying factors linked to this gene.
Myoepitheliomas of the salivary glands are rare benign tumors composed of spindle-shaped myoepithelial cells, but may show plasmacytoid, epitheloid and clear cell-types that principally exhibit myoepithelial but not ductal differentiation. These tumors are mainly located in the major salivary glands and have sometimes abundant, acellular, mucoid or hyaline stroma but lack chondroid and myxochondroid foci, probably representing the one end of the spectrum of pleomorphic adenoma. Lipomatosis in the form of isolated small islands or scattered single lipocytes, is quite uncommon, and a large amount of adipose tissue in a pleomorphic adenoma and myoepithelioma is a rarity and only described in major salivary glands. We present the case report of a 38-year old man with a myoepithelioma of the minor palatinal salivary glands with extensive lipomatosis as an example of this rare phenomena.
Magnetic resonance examinations were performed in 15 patients suffering from echocardiographically detected intracardiac masses. All patients were examined with a 1.5 T superconducting machine, using spin echo technique, including Gd-DTPA, and gradient echo sequences. The MR findings were confirmed partially by histology and angiography, otherwise by good correlation to clinical findings. MR results were divided into three groups: 1. tumour, 2. thrombosis, 3. pseudotumorous mass, and corresponded well with the final diagnosis: in 8 patients tumour, in 5 patients thrombosis, and in two patients pseudotumorous masses, including one hydatid cyst and one case of lipomatosis. Tumours showed in contrast to thrombosis marked enhancement after gadolinium injection, whereas the hydatid cyst and the lipomatosis demonstrated characteristic signal behaviour. Problems existed in differentiation mass vs slow flow, in the detection of very small masses, and in the assessment of wall-fixation and motion of a mass during cardiac cycle. The results demonstrate that MRI with Gd-DTPA can give important additional information in the differential diagnosis of echocardiographically detected intracardiac masses.
Madelung's disease, also known as benign symmetric lipomatosis, multiple symmetrical lipomatosis or Lanois-Bensaude syndrome, consists of growth of fatty masses predominantly on the face, neck, shoulders, upper thorax and arms. These painless and symmetrical fatty deposits can cause important aesthetic changes in these patients. Middle-aged males are more commonly affected, with an increased prevalence in the Mediterranean area. Currently, the incidence in Italy is 1 in 25,000 males. The aetiology of Madelung's disease remains unknown, although approximately = 60% of affected patients are clinically overweight and there is an intimate association with chronic alcohol abuse. We report an unusual case of Madelung's disease in a 52-year-old male. The fatty deposits were completely resected by means of surgical lipectomy. The patient remains well and disease-free after 12 months of postoperative follow-up.
This 44-year-old man presented with a 4-year history of progressive spastic weakness of his legs. He was found to have epidural lipomatosis behind the thoracic spinal cord, and the nerve roots exited from the posterior and anterior midline planes of the dura, indicating a 90 degree rotation of the thoracic cord. Magnetic resonance images clearly demonstrated the segmental thoracic nerve roots exiting from the dorsal midline of the dura, a finding confirmed at surgery. The authors found only one previously published case of rotation of the spinal cord. Directed mechanical stress caused by deformation of the rotated spinal cord, rather than compression from adipose tissue, is proposed as the mechanism of the myelopathy. The extent, location, and thickness of the associated extradural adipose tissue is suggestive of epidural lipomatosis. The lipomatous tissue might have been an epiphenomenon and cord rotation an isolated congenital anomaly. Alternatively, asymmetrical growth of epidural fat may have exerted torque, rotating the thecal sac.
Intestinal ganglioneuromas comprise benign, hamartomatous polyps characterized by an overgrowth of nerve ganglion cells, nerve fibers, and supporting cells in the gastrointestinal tract. This polyposis has been divided into 3 subgroups, each with a different degree of ganglioneuroma formation: polypoid ganglioneuroma, ganglioneuromatous polyposis, and diffuse ganglioneuromatosis. The ganglioneuromatous polyposis subgroup is not known to coexist with systemic disorders that often have an associated intestinal polyposis, such as multiple endocrine neoplasia type IIb, neurofibromatosis type I, and Cowden syndrome. We report a case of ganglioneuromatous polyposis plus cutaneous lipomatosis in a 41-year-old man with no established systemic disease. However, he possessed unique anatomic findings in addition to his ganglioneuromatosis, suggesting that the ganglioneuromatosis-lipomatosis in our patient may represent an unrecognized syndrome. This case report and brief review of the literature provide an overview of intestinal ganglioneuromatosis in relation to the hereditary polyposis syndromes and describe the individual ganglioneuromatosis subgroups.
The spinal cord and cauda equina move in the subarachnoid space by changing positions. The subarachnoid space is compressed from the dorsal side by epidural injection. At the end of gestation, the subarachnoid space is compressed from the ventral side by the engorged venous plexus. Idiopathic epidural lipomatosis is observed almost exclusively in the obese population. In the case of lipomatosis, the subarachnoid space is compressed by increased extradural fat around the thecal sac. We have had some severe cases of spinal canal stenosis in whom it is difficult to perform the spinal puncture. The authors showed some MR images and discussed morphological issues for spinal or epidural anesthesia.
Four lipomatous lesions of the uterus are reported and the available literature from 1965 to 1976 is reviewed. It is suggested that these lesions result from metamorphosis of uterine smooth muscle which can proceed to form localised or diffuse mature adipose tissue in a leiomyoma or in the myometrium. Three terms are suggested for the nomenclature of the various morphological types of lipomatous lesions of the uterus: diffuse lipomatosis in a leiomyoma, circumscribed lipomatosis in a leiomyoma and uterine lipoma.
Forty-seven thyroids obtained at autopsy from patients with acquired immunodeficiency syndrome (AIDS) with no clinical manifestations of thyroid disease were analyzed systematically in order to determine the frequency and the major pathological characteristics of thyroid involvement in these individuals. The glands were obtained from 38 men and 9 women aged (on average) 33.6 yr. The specimens were weighed, measured, and evaluated after fixation in formalin Histological examination was performed on at least 10 macroscopically normal and altered areas. The anatomopathological lesions detected in 29 glands (613%) were chronic nonspecific focal inflammation (482%); mycobacteriosis and colloid goiter (172%); histoplasmosis, cryptococcosis, and lipomatosis (133%), and paracoccidioidomycosis and hyperplastic nodules (3A%). Although thyroid disease had not been clinically diagnosed, thyroid involvement was elevated (613%) and in 14 cases (293%) it was related to the immunodeficiency, with mycobacteria being the most common opportunistic agents. There appears to be no report of the association of lipomatosis with AIDS, although this was a frequent finding in the present study (13 7%), exceeding by far the rates reported in the literature (1-2%). Thus, thyroid lesions are frequent in AIDS patients, occurring in two thirds of the patients studied, especially those with disseminated infection.
To evaluate the value of myosonography in inflammatory myopathies ultrasound of skeletal muscles was performed in 70 patients, aged 21-82 years, suffering from histologically proven polymyositis (n = 30), dermatomyositis (n = 18), granulomatous myositis (n = 9), inclusion body myositis (n = 13), and in 102 control persons. The sensitivity of muscle ultrasound in detecting histopathologically proven disease (82.9%) was not significantly different from electromyography (92.4%) or serum creatine kinase activity (68.7%). The positive predictive value of ultrasound was 95.1%, the negative predictive value 89.2%, and the accuracy 91.3%. The different types of inflammatory myopathies presented with typical, but not specific ultrasound features. Polymyositis showed atrophy and increased echointensity predominantly of lower extremity muscles, whereas in dermatomyositis clear muscle atrophy was rare and echointensities were highest in forearm muscles. Echointensities were lower in dermatomyositis compared to poly- and granulomatous myositis. Granulomatous myositis was characterized by the highest echointensities and a tendency towards muscle hypertrophy. Severe muscle atrophy was the most impressive feature in the majority of patients with inclusion body myositis. Comparison of ultrasound and histopathological findings indicates that muscle lipomatosis has a much greater impact on muscular echointensity than does muscle fibrosis. Ultrasound of myositis improved clinical assessment of patients by supplying differential diagnostic clues based on precise muscle size measurements and identification of mesenchymal abnormalities, particularly muscle lipomatosis.
Non-alcoholic steatohepatitis (NASH) is one of the most common liver disorders. This is highly prevalent in obese and diabetic subjects. Persons with central obesity are at particular risk. Other clinical predictors are age more than 40-50 years and hyperlipidemias, but none of these factors is invariable for causation of NASH. Other reported associations are, celiac disease, Wilson's Disease and few other metabolic diseases. Drugs, particularly amiodarone, tamoxifen, nucleoside analogues and methotrxate have also been linked to NASH. The disease is evenly distributed in both sexes but advanced disease is more common in women. Ethnic variation exists and African Americans are less affected than Hispanic Americans. Specific clinical features of NASH are infrequent. Patients usually come to clinical attention by elevated liver enzymes found on routine evaluation but on history, about two third of patients will admit to have mild fatigue and about half will report right upper quadrant pain. Rarely, patient may present with a complication of cirrhosis. Physical examination may reveal hepatomegaly and splenomegaly. Research in last few years has stressed that development of steatosis, stetohepatitis, fibrosis with subsequent cirrhosis are most probably the result of insulin resistance. Therefore, clinical features may reflect existence of insulin resistance. Obesity, particularly central obesity is most important of these. Patients may have sleep apnea syndrome. Hypertension and manifestations of diabetes mellitus like polyuria, polydypsia, and neurological deficits may occur. Patients may have varying combination of obesity, diabetes, hyperlipidemia, hypertension and impaired fibrinolysis (syndrome X). Children with insulin resistance may show acanthosis nigricance. Patients with polycystic ovary syndrome, which consists of insulin resistance, diabetes, obesity, hirsutism, oligo or polymenorrha and hyperlipidemia may have NASH. Other rare manifestations of insulin resistance, which can be seen in patients of NASH are lipomatosis, lipoatrophy/lipodystrophy and panniculitis. Most other rare conditions known to cause NASH like peroxisomal diseases, mitochondialpathies, Weber-Christian disease, Mauriac syndrome, Madelung's lipomatosis and abetaliopprotenemia also have insulin resistance. This is believed that primary defect underlying insulin resistance is impairment in postreceptor pathways (through tyrosine kinase activity) of insulin action. Primary defect in insulin receptors appear uncommon. This results in down regulation of insulin receptor substance 1 (IRS-1) signaling by excess free fatty acids. In muscle, activated IRS-1 promotes translocation of glucose transporter protein 4 (GLUT4) to cell membrane. As a result, monocyte glucose uptake by GLUT4 increases glucose disposal from blood and reduced need for insulin. PKC-0 is a likely candidate as serine kinase in muscle regulated by fatty acids that can impair the activation of IRS-1. Insulin resistance is usually evaluated by fasting insulin levels, Quantitative Insulin Check Index (QUICKI) and Homeostasis Model Assessment of Insulin Resistance (HOMA), C-peptid/insulin ratio oral glucose tolerance test and hyper insulinemic euglycemic clamp. The clamp technique is considered the gold standard.
PURPOSE: Lipomatous lesions of the parotid gland are rare and seldom considered in the initial diagnosis of a parotid mass. We report our experience in the management of patients with lipomatous lesions affecting the parotid gland. PATIENTS AND METHODS: Retrospective analysis of all parotidectomies performed for neoplastic lesions in the maxillofacial unit between 1975 and 2003 and patients with lipomatous lesions involving the parotid gland were identified; 638 parotidectomies were performed in this period on 629 patients in which 660 neoplasms were identified. Eight patients were found to have lipomatous lesions and form the basis of this study. RESULTS: Lipomatous lesions accounted for only 1.3% of parotid tumors and occurred more frequently in males, at a ratio of 3 to 1. The most common presentation was that of a slowly enlarging, painless mass. Computed tomography scan was the most frequent imaging modality undertaken, and in 3 patients a diagnosis of a lipoma was made preoperatively. Seven patients underwent a superficial parotidectomy and 1 patient had a total conservative parotidectomy because of the deep lobe location of the mass. Five patients were found to have a focal lipoma and 3 patients had diffuse lipomatosis. There were no recurrences. Temporary facial nerve palsy and Frey's syndrome were the most frequent complications. CONCLUSION: Lipomatous lesions accounted for only 1.3% of all parotid tumors. There were no specific distinguishing clinical features in our patients, and an accurate preoperative diagnosis was made in 3 patients based on imaging investigations. A well-circumscribed lipoma was more common than diffuse lipomatosis. Superficial parotidectomy was the treatment of choice and there were no recurrences in our series.
BACKGROUND: Lipodystrophy (peripheral lipoatrophy, central fat accumulation, and lipomatosis) is a common and disfiguring problem in adult patients with HIV-1 infection on antiretrovirals. However, an objective, validated definition of the disorder does not exist. We aimed to develop an objective, sensitive, specific, and broadly applicable case definition of HIV lipodystrophy. METHODS: In a case-control study, 1081 consecutive, HIV-infected, adult outpatients (261 [15%] women) without active AIDS were recruited from 32 sites worldwide. We classed patients with at least one moderate or severe subjective lipodystrophic feature, identified by lipodystrophy-specific physical examination and patient questionnaire, and apparent to both doctor and patient as cases (n=417). We classed patients with no such feature as controls (n=371), and patients without a clear diagnosis as non-assigned. We used objective clinical, metabolic, and body composition measurements to construct a logistic regression model with a subset of randomly selected cases and controls. The model was validated in the remaining patients. FINDINGS: A model including age, sex, duration of HIV infection, HIV disease stage, waist to hip ratio, anion gap, serum HDL cholesterol concentration, trunk to peripheral fat ratio, percentage leg fat, and intra-abdominal to extra-abdominal fat ratio had 79% (95% CI 70-85) sensitivity and 80% (95% CI 71-87) specificity for diagnosis of lipodystrophy. Models that incorporated only clinical, or only clinical and metabolic variables had lower sensitivity and specificity than the inclusive model. Models for lipoatrophy, fat accumulation, and lipomatosis could not be developed since pure phenotypes occurred in fewer than 10% of patients with clinical diagnoses of these disorders. INTERPRETATION: Our objective case definition of HIV-associated lipodystrophy should improve assessment of lipodystrophy prevalence, risk factors, and pathogenesis; prevention and treatment approaches; and assist in diagnosis.
Lipomatous pleomorphic adenoma is an unusual subtype with a lipomatous stromal component of more than 90% of the tumour tissue. This special type of pleomorphic adenoma must be distinguished from other types of lipomatous tumours or non-tumourous lipomatosis of the salivary glands. Until now only two cases of lipomatous pleomorphic adenoma have been reported in the literature. We report of a 36-year old woman who developed a well circumscribed nodule measuring 3.5 x 2.5 x 2 cm in the right parotid gland. The cut surface was grey-yellowish. Histologically, more than 90% of the tumour tissue was fatty tissue with univacuolar adipocytes. The pleomorphic epithelial elements were duct-like cells forming small lumina and spindle-shaped myoepithelial cell with surrounding mucoid stroma. Components of pleomorphic adenoma were intermingled with mature adipose tissue which was more concentrated in the central portion of the adenoma. Some compressed epithelial cords in the adipose tissue formed a septa-like pattern. The differential diagnosis to other lipomatous tumours (lipoadenoma, lipoma) and to non-tumourous interstitial lipomatosis as well as the possible pathogenesis as metaplastic change or epithelial-mesenchymal transdifferentiation are discussed.
We describe painful subcutaneous lipomatosis in four members of a two-generation family. Lipomas appeared in adulthood, were circumscribed, painful on touch and mainly localized to the trunk and proximal parts of the extremities. The disorder was associated with dysarthria, visual pursuit defect and progressive dystonia. MRI showed bilateral increasing cystic lesions in the basal parts of the putamen. No other abnormalities were detected. The lesions corresponded well with the clinical presentation in the patients. Investigation for mitochondrial disease with muscle biopsy and mitochondrial DNA gave normal results. No consistent biochemical changes were found. The disorder in this family was considered to differ from MERRF with lipomatous lesions and multiple symmetric lipomatosis but compatible with a Dercum disease variant.
A case of rare fat-cell-containing adenoma, an adenolipoma, in the thyroid gland is reported. Previously documented cases are reviewed. Diffuse lipomatosis of the thyroid, amyloid goitre with adipose tissue, and the relationship between lipomatosis and adenolipoma are discussed.
Two cases are described which presented with diffuse swelling of one cheek and hypertrophy of the underlying maxilla and mandible. Both children developed verrucous pigmented streaks over the area of swelling, and had epilepsy and severe mental subnormality. One of the children had a contralateral hemiplegia and his condition had a progressive course. The other child had no focal neurological signs and his disease seemed to be non-progressive. Although the facial appearance of both children suggested the diagnosis of encephalocrainiocutaneous lipomatosis syndrome, it was not possible to demonstrate the presence of any lipomata in either case. The literature relating to encephalocraniocutaneous lipomatosis is reviewed, as well as that relating to the syndromes of naevus unius lateris, the Proteus syndrome and the syndrome of cranial hemihypertrophy, and the clinical features of our two cases are compared with the features of these four syndromes.