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PubMed2000

Synovial neoformations and tumours.

An important group of soft tissue tumours and tumour-like lesions originates from the synovium of the joints, bursae and tendon sheaths. These include synovial chondromatosis, diffuse articular lipomatosis (lipoma arborescens), villonodular synovitis, synovial haemangioma, synovial chondroma and fibroma (intracapsular and peri-articular), primary chondrosarcoma originating from the synovium and synovial sarcoma. The main clinical symptoms of these tumours, such as pain, swelling, effusion and joint locking, are not specific, so the diagnosis can easily be missed in clinical practice. The most important clinical characteristics and the differential diagnostic clues for synovial tumours and tumour-like lesions are described in this chapter. In addition, the new results of genetic and histological studies are discussed, together with a summary of the available evidence-base for therapy.

Bone Neoplasms↗
PubMed2006

Primary cilia deletion in pancreatic epithelial cells results in cyst formation and pancreatitis.

BACKGROUND & AIMS: Defects in cilia formation or function have been implicated in several human genetic diseases, including polycystic kidney disease (PKD), Bardet-Biedl syndrome, and primary ciliary dyskinesia. Pancreatic lesions are found in approximately 10% of PKD patients, suggesting a connection between cilia defects and pancreatic pathologies. Here, we investigate the role of cilia in pancreas formation and function by analyzing mice that lack cilia in pancreatic cells. METHODS: Using Cre/lox technology, we conditionally inactivated Kif3a, the gene encoding for a subunit of the kinesin-2 complex that is essential for cilia formation, in pancreatic epithelia. Kif3a mice were studied by immunohistochemical and biochemical methods to assess the morphology and differentiation status of pancreatic cells. RESULTS: Tissue-specific loss of Kif3a in pancreatic cells resulted in severe pancreatic abnormalities including acinar-to-ductal metaplasia, fibrosis, and lipomatosis. Ductal metaplasia appears to be due to expansion of ductal cells rather than transdifferentiation of acinar cells. Cyst formation, aberrant ductal morphology, and extensive fibrosis associated with severe adhesion to adjacent organs were commonly observed in aged Kif3a mutant mice. Deletion of Kif3a using different pancreas-specific Cre strains suggests that these pancreatic phenotypes might be caused by the absence of cilia in ductal cells. Activation of transforming growth factor beta and Mitogen-activated protein kinase kinase/extracellular signal-regulated kinase (MEK/ERK) pathways may play a role in these phenotypes. CONCLUSIONS: These results demonstrate that the absence of cilia in pancreatic cells produces pancreatic lesions that resemble those found in patients with chronic pancreatitis or cystic fibrosis.

Animals↗
PubMed1997

[Oropharyngeal fat hernia in Madelung's neck as a rare cause of acute dysphagia].

BACKGROUND: Multiple symmetric lipomatosis (MSL) is a rare disorder clinically characterized by the presence of nonencapsulated lipomatous tissue around the neck, shoulders, and upper part of the thorax. The entity is frequently associated with peripheral neuropathy, chronic hepatopathy, and alcoholism. Despite of the cosmetically aspect of the patient with a reduced range of motion of the head and neck, MSL is asymptomatic in most cases. CASE REPORT: A 61-year-old man with Madelung's disease complaining of acute dysphagia is presented. Magnetic resonance imaging revealed an oropharyngeal fat prolapse originating from the lipomatous tissue at the neck site. A symmetric resection of the neck fat with removal of the fat prolapse resulted in a satisfying functional and cosmetically outcome. CONCLUSION: To prevent complications and cosmetically disfigurement, early surgical intervention is recommended.

Acute Disease↗
PubMed1980

[The computer tomographic differential diagnosis of benign and malignant lipoid masses in the mediastinum and their spread (author's transl)].

Details of the tissues in the mediastinum can nowadays be demonstrated by computer tomography (CT) pictorially and quantitative measurements of their density coefficient carried out. The diagnosis of a fat-containing tumour or of benign lipomatosis of the mediastinum and their differentiation from malignant lesions is important for treatment and prognosis. In the past this could only be done by surgery. CT permits this differentiation pre-operatively and by a non-invasive method. The extent of malignant tumours and their relationship to other mediastinal structures and their spread beyond the mediastinum can be determined.

Adolescent↗
PubMed1985

Mucosal pseudolipomatosis of the colon.

Twenty-four cases of a lesion characterized by unlined spaces in the colorectal lamina propria are presented. While lesions such as this have been reported previously as "lipomatosis" of the colon, histochemical and ultrastructural examination reveals that they are not, in fact, composed of adipocytes. It appears that they may be composed of gas trapped in the lamina propria. Because of their gross and microscopical similarity to fat, however, the term "pseudolipomatosis" is proposed.

Adult↗
PubMed1998

Multiple spindle cell lipomas: a report of 7 familial and 11 nonfamilial cases.

Spindle cell lipoma, a variant of a benign lipoma, usually occurs as a solitary, subcutaneous, circumscribed lesion in the posterior back, neck, or shoulders of older men. Multiple lesions are exceedingly rare. To our knowledge, there have been no previous series reported of patients with multiple subcutaneous spindle cell lipomas. We examine the clinicopathologic findings of a group of patients with multiple spindle cell lipomas, including seven with a familial occurrence of this disease. The Soft Tissue Registry of the Armed Forces Institute of Pathology and the consultation files of one of the authors (S.W.W.) from the Department of Pathology at the University of Michigan were searched for patients with multiple spindle cell lipomas. All patients' records, clinical history, and pathology were reviewed. All patients had a minimum of two tumors that met strict morphologic criteria for spindle cell lipoma. Pleomorphic cells, typical of pleomorphic lipoma, were observed in some cases and were acceptable as part of the spectrum of spindle cell lipomas. Associated lesions, family history, ethnic background, daily habits, and natural progression of disease were recorded and compared. Eighteen patients in our files met the criteria for multiple spindle cell lipomas; 4 of the 18 patients were from the same family. Three additional patients had a family history of multiple spindle cell lipomas. The ratio of patients with multiple spindle cell lipomas to all patients with spindle cell lipoma in the two consultation files was 0.5 and 3%, respectively. All of the patients in our study were male; three had a family history of females with less severe disease (fewer and smaller spindle cell lipomas); however, no material from these female patients was available for review. All but four patients presented in their sixth through eighth decades of life; yet, several older patients stated that their first lesion occurred in their fifth decade. Patients had between 2 and >220 lesions, which usually commenced on the posterior neck or back, commonly followed by additional bilateral lesions on the shoulders and upper torso. The natural history of this disease revealed development of multicentric lesions over several years, for both familial and nonfamilial cases. The tumors became more cellular as the disease progressed, often with features of pleomorphic lipoma; however, no patients developed spindle cell liposarcoma. Multiple spindle cell lipomas are rare. The clinical presentation may mimic Madelung's disease (symmetrical lipomatosis). As mentioned above, some cases are familial. Genetic predisposition must be further examined. There appears to be no common ethnic background, environmental exposure, medical condition, or syndrome of associated lesions with multiple spindle cell lipomas.

Adult↗
PubMed1979

Symmetrical lipodystrophy with hypothyroidism.

We present the history and treatment of a woman who had benign symmetrical lipomatosis and hypothyroidism. We suggest full thyroid investigation of future patients. We also suggest shortening the name of the disorder to symmetrical lipodystrophy, since the syndrome seems to be related to fat deposit growth rather than lipoma, and no malignant variant has been reported.

Female↗
PubMedDate not supplied

Lipomatous tumors of the stomach: CT findings and differential diagnosis.

This article reviews the computed tomography imaging features of a variety of gastric tumors containing fatty tissue. Lipoma, angiolipoma, liposarcoma, and teratoma are described. Differential diagnosis includes primary and reactive lipomatosis, carcinoma engulfing the perivisceral fat thus mimicking differentiated liposarcoma, and mesenchymal gastric and peritoneal neoplasms.

Adult↗
PubMed1977

The pathology of congenital localized gigantism.

Two cases of congenital localized gigantism are described. They illustrate a form of segmental limb disproportion, characterized pathologically by an excessive linear growth of the skeletal structures and by soft tissue lipomatosis. The gigantism was confined to bones of the right great toe and adjacent metatarsus in one case; it affected the long bones of a lower extremity in the second case. Case 2, followed for over 7 years, developed a fibrovascular hamartomatous neoplasm of rapid growth and some cytological atypia in infancy--but this was well controlled by conservative surgery. This type of gigantism of the limb appears to be compatible with a normal life expectancy, and it is conceptually useful to distinguish it from hemihypertrophy. The number of cases reported is insufficient to support a significant association of gigantism with malignant tumors or with other life-jeopardizing anomalies.

Child↗
PubMed1983

Coupling between the beta-adrenergic receptor and the adenylate cyclase--pathophysiological implications.

Most beta-adrenergic effects are mediated by activation of the enzyme adenylate cyclase. Hormone binds to the receptor leading to an accelarated binding of GTP to the coupling protein, the N-protein, which is activated. This causes an activation of the adenylate cyclase and an increased formation of cAMP, the intracellular second messenger. The same principles hold good for other hormones coupled to adenylate cyclase. The sensitivity of the adenylate cyclase may be altered in different clinical and experimental conditions. An increased sensitivity is seen in hyperthyroidism in man and in the rat, and during starvation in rats. A decreased sensitivity is seen in hypothyroidism, in patients with pheochromocytoma, pseudohypoparathyroidism type I or multiple symmetric lipomatosis. Several reasons for the altered sensitivity have been suggested. The number of hormone receptors, the coupling between receptor and N-protein, the amount or function of the N-protein or the PDE activity may all vary in different conditions.

Adenylyl Cyclases↗
PubMed1995

Regional Proteus syndrome: report of an autopsy case.

An uncommon autopsy case involving Proteus syndrome with multiple hamartomatous lesions in a 52 year old woman is reported. At birth, hemihypertrophy was noted on the right side of the face. Leiomyoma of the urinary bladder was extirpated at 37 years of age. She died of sepsis due to a brain abscess. At autopsy, diffuse asymmetrical lipomatosis was noted on the right side of the face, scalp, lip, oral mucosa, tongue and on the left side of the cerebellar peduncle. Multiple meningiomas, cavernous hemangiomas and osseous hypertrophy overlapped in the intracranial regions. The present case is considered as a regional type of Proteus syndrome displaying a somatic mosaicism.

Brain Neoplasms↗
PubMed1998

Uncommon multisystemic involvement in a case of Henoch-Schönlein purpura.

A case of Henoch-Schönlein purpura (HSP) characterized by several unusual complications is reported. A 10-year-old boy was hospitalized with acute abdomen and developed purpura on the lower extremities after 4 days of hospitalization. He had protein-losing enteropathy, diagnosed by an elevated fecal alpha-1-antitrypsin clearance. The colicky abdominal pain and protein-losing enteropathy subsided after methylprednisolone pulse therapy was administered. He had left hydronephrosis and gall-bladder abnormalities detected by ultrasonography, and purpura nephritis. However, after improvement of these abnormalities, he showed steroid-induced epidural lipomatosis, detected by magnetic resonance imaging, which resolved with steroid reduction. Ultrasonography and magnetic resonance imaging were useful for detecting these uncommon multisystemic involvements in HSP.

Child↗
PubMed1983

The spectrum of peripelvic cysts.

Nineteen peripelvic cysts with unusual findings are discussed. While usually an incidental radiographic finding, these cysts may obstruct the collecting system and yet not be apparent on nephrotomography. They may also be confused with renal sinus lipomatosis and, ultrasonographically, they may mimic hydronephrosis.

Aged↗
PubMed1988

Noncosmetic applications of liposuction.

Noncosmetic applications of liposuction have continued to appear since its introduction into the United States in 1982. Although the most common use is in removing lipomas, liposuction has also been used for benign symmetric lipomatosis, flap undermining, flap defatting, gynecomastia, pseudogynecomastia, breast reduction, buffalo hump, hypertrophic insulin lipodystrophy, lymphedema, evacuating hematomas, emergency neck defatting for airway restoration, and axillary hyperhidrosis. Other uses remain to be discovered.

Breast↗
PubMed1993

Myelography, CT, and MRI of the spinal canal in patients with myelopathy: a prospective study.

A prospective study including myelography, CT, and MRI was performed on 36 patients with clinical signs of myelopathy. Evoked potentials and spinal fluid examinations were also carried out. Based on our findings, the patients could be classified as suffering from cryptogenic myelopathy (n = 12), multiple sclerosis (n = 6), spinal stenosis (n = 6), or miscellaneous myelopathies (n = 12). The diameter of the spinal cord was normal in the 2 first groups of patients and of same magnitude evaluated by myelography and CT, while MRI constantly gave higher figures. In only four of the patients important new information was added by CT and MRI (syringomyelia, myelitis, lipomatosis) compared with myelography, although a more precise visualization was often provided. Further diagnostic progress in patients with myelopathy of undetermined etiology may be obtained by including supplementary MRI of the brain disclosing multiple sclerosis in several cases.

Adult↗
PubMed2001

Mitochondrial DNA rearrangements in young onset parkinsonism: two case reports.

Parkinson's disease is a nosological entity of unknown origin for which, in some cases, a possible pathogenetic role for mitochondrial dysfunction has been postulated. Two young onset parkinsonian patients with mitochondrial DNA (mtDNA) deletions in skeletal muscle are reported on. Patient 1 also presented with increased blood creatine kinase and lactate concentrations and a family history which included a wide range of phenotypes affecting multiple systems. Patient 2 presented with multiple symmetric lipomatosis. Histopathological investigation showed ragged red fibres and COX negative fibres in muscle biopsies from both patients. The data support the hypothesis that mitochondrial DNA mutations may occur in some cases of parkinsonism, suggesting that a diagnosis of a mitochondrial disorder should be considered in the presence of consistent family history and clinical symptoms.

Adult↗
PubMed1977

The pear-shaped bladder.

The tear-drop or pear-shaped bladder was originally described in cases of pelvic hematoma. It may also be seen, however, with a variety of other entities, including pelvic lipomatosis, inferior vena cava occlusion, lymphocysts, and enlarged pelvic lymph nodes. Pertinent radiographic findings of these conditions are reviewed.

Adult↗