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PubMed1982

The histopathological substratum for atrial fibrillation in man.

Quantitative studies on the histological sections of the atria including sinoatrial (SA) node, SA junction and internodal preferential pathways in 12 hearts with long-term atrial fibrillation (Af group) and in 43 hearts with no arrhythmia (control group) have been carried out. The control group was subdivided into two age-groups, the younger and older over 50 years for the age-matched comparison with the Af group. In the Af group, markedly impaired contiguity of the SA junction, severe fibrosis and lipomatosis of atria were common precipitating factors. Regarding the ratio of SA nodal cells to the area of SA node, and patency of SA node artery, there were no significant difference between the Af group and age-matched (older) control group. In comparison between the two control groups, decreased SA nodal cells, stenosis of SA node artery, impaired contiguity of the SA junction, fibrosis and lipomatosis of atria were more prominent in the majority of the older group than that of the younger. These findings suggest that the pathological lesions of the SA junction and the atrial myocardium in the Af group were the exaggerated aging changes, and these lesions may be the main anatomic substratum for Af.

Adult↗
PubMedDate not supplied

Nevus psiloliparus and aplasia cutis: a further possible example of didymosis.

Nevus psiloliparus is a distinct type of mesodermal nevus of the scalp characterized by absence or paucity of hair, and presence of an excessive amount of fatty tissue. It is considered a hallmark of encephalocraniocutaneous lipomatosis, a rare disorder comprising a variety of cutaneous, ophthalmologic, and neurologic defects. We report two infants with encephalocraniocutaneous lipomatosis with nevus psiloliparus on the scalp in close association with aplasia cutis congenita. This unusual association may be considered a further example of didymosis, for which we propose the term, didymosis aplasticopsilolipara.

Adipose Tissue↗
PubMed2001

A novel germline mutation of the PTEN gene in a patient with macrocephaly, ventricular dilatation, and features of VATER association.

Mutations of the PTEN gene are associated with hamartoma-neoplasia syndromes. While germline mutations at this chromosome 10q22-23 locus have been observed in patients with Cowden syndrome (CS) and Bannayan-Riley-Ruvalcaba syndrome (BRR), both of which phenotypes are associated with hamartomata and neoplasia, somatic mutation of PTEN has been established in a wide variety of sporadically occurring neoplasia. CS and BRR share some clinical features, specifically hamartomata and lipomatosis. Investigation of other clinically distinct syndromes associated with lipomatosis and overgrowth has established germline and germline mosaic PTEN mutations in several patients with Proteus syndrome. To this expanding array of clinically distinct phenotypes associated with PTEN mutations, we now report a novel heterozygous germline mutation, H61D, in a patient with features of VATER association with macrocephaly and ventriculomegaly.

Abnormalities, Multiple↗
PubMed1993

Uterine leiomyoma with a focus of fatty and cartilaginous differentiation.

A uterine leiomyoma with a focus of fatty and cartilaginous differentiation in a 58-year-old female is reported. The leiomyoma was located in the posterior uterine wall and had a maximum diameter of about 15 cm. A yellow hard nodule, about 5 cm in diameter, was found in the periphery of the leiomyoma and histologically was composed of cartilaginous tissue in islands with lipofibromyomatous tissue surrounding them. Generally so-called lipomatous lesions of the uterus include circumscribed or diffuse lipomatosis of a leiomyoma and pure lipoma. Although appearance of cartilaginous tissue in lipomatous lesions of the uterus has never been reported, this case should be a very special form of circumscribed lipomatosis of a uterine leiomyoma.

Adipose Tissue↗
PubMed1988

Epidural hibernoma as a complication of corticosteroid treatment. Case report.

Centripetal fat deposition is a well-recognized consequence of excessive use of corticosteroids, either endogenous or exogenous. Recently, several patients receiving large doses of corticosteroids have suffered compressive myelopathies due to excessive epidural fat collections, labeled "epidural lipomatosis." Two of these have been children, and a third child is reported here. This child was receiving chronic steroids for juvenile rheumatoid arthritis when he presented with such a myelopathy, which was confirmed by metrizamide computerized tomography myelography as well as by surgical exploration. Histological examination revealed that the epidural tissue was a brown-fat tumor or "hibernoma." An epidural hibernoma has not been described previously. The histological and endocrine features of fat in Cushing's syndrome are discussed, and the literature concerning hibernoma and epidural lipomatosis is reviewed.

Adipose Tissue, Brown↗
PubMed2005

Reverse transcriptase inhibitors alter uncoupling protein-1 and mitochondrial biogenesis in brown adipocytes.

OBJECTIVE: Human adipose depots contain remnant brown adipocytes interspersed among white adipocytes, and disturbances of brown with respect to white adipocyte biology have been implicated in highly active antiretroviral therapy (HAART)-induced lipomatosis. Brown adipocytes express the uncoupling protein-1 (UCP1) and contain a large number of mitochondria, potential targets of HAART toxicity. The aim of this study was to evaluate the effects of reverse transcriptase inhibitors (RTIs) on primary brown adipocytes differentiated in culture. DESIGN AND METHODS: We analysed the effects of RTIs, nucleoside analogues (NRTIs: stavudine, zidovudine, didanosine and lamivudine) and non-nucleoside analogues (NNRTIs: nevirapine and efavirenz), on differentiation, mitochondrial biogenesis and gene expression in brown adipocytes. RESULTS: None of the NRTIs altered brown adipocyte differentiation whereas NNTRIs had differing effects. Efavirenz blocked lipid deposition and expression of adipose marker genes but nevirapine induced lipid accumulation and adipose gene expression, promoted mitochondrial biogenesis and increased UCP1. Stavudine, zidovudine and didanosine reduced mitochondrial DNA (mtDNA) content. However, mitochondrial genome expression was only impaired in didanosine-treated adipocytes. Stavudine, but not zidovudine, induced expression of the mitochondrial transcription factors and this may explain compensatory mechanisms for the depletion of mtDNA by up-regulating mtDNA transcription. Stavudine caused a specific induction of UCP1 gene expression through direct interaction with a retinoic acid-dependent pathway. CONCLUSIONS: Specific disturbances in brown adipocytes in adipose depots may contribute to HAART-induced lipomatosis. Mitochondrial depletion does not appear to be the only mechanism explaining adverse effects in brown adipocytes because there is evidence of compensatory mechanisms that maintain mtDNA expression, and the expression of the UCP1 gene is specifically altered.

Adipose Tissue, Brown↗
PubMed1987

[A case of superior sagittal thrombosis secondary to hyperlipidemia].

A 42-year-old man was admitted to the Saiseikai Fukuoka General Hospital on March 22, 1985 with complaints of nausea, vomiting and headache which had continued for twelve days. On physical examinations, multiple subcutaneous nodules were noted in the chest, abdomen and extremities with dilated veins in the chest wall. Furthermore, the discoloration of the skin attributable to the venous occlusion was noted in the left foot. Neurological examinations failed to reveal any abnormalities except for moderate choked disc in bilateral ocular fundi. Spinal puncture revealed CSF pressure as high as 350 mmH2O with slight increase in cell numbers. CT demonstrated small intracerebral hematomas bilaterally in occipital lobes with evidence of "empty delta" sign in the superior sagittal sinus. On angiographical findings, the superior sagittal sinus was not demonstrated in venous phase and the blood was drained mainly through the paravertebral plexus and the pterygoid plexus without any abnormalities in arterial and capillary phases. Serological examination revealed a hypercoagulability and hyperlipidemia especially in LDL (Low Density Lipoprotein) and VLDL (Very Low Density Lipoprotein). On etiological considerations, all of these abnormalities seemed to be derived from the hyperlipidemia. Furthermore, multiple symmetrical lipomatosis was defined as a "lipoprotein storage disease" in which laboratory examinations revealed hyperlipidemia especially in LDL and in some subfraction of HDL. Although not a typical case, there must be some possibilities that the lipomatosis of this case is secondary to disorder of lipid metabolisms. In conclusion, all of various pathological conditions observed in this case were considered to be due to the disorder of lipid metabolism.

Adult↗
PubMed1990

[Surgical treatment of Launois-Bensaude disease. The value of liposuction].

Launois-Bensaude adenolipomatosis or Madelung's disease was described in 1898. Typically, the lipomatosis affects chronic alcoholic patients with a symmetrical distribution around the neck and occiput. The mass gradually diffuses into the scapular, deltoid, chest wall or abdominal areas. Cosmetic deformity and the difficulty of obtaining clothes, lead patients to seek surgical treatment. This surgical management (only effective treatment) has a severe tendency to haemorrhage and dissection is complicated by infiltrations of neighbouring tissue. Suction curettage lipectomy associated with classical surgical resection were performed in three patients, in different sites. Respective indications for the various techniques are studied in this paper.

Adult↗
PubMed1989

[Madelung's disease].

The paper reports on symmetric benign lipomatosis of the head and neck--Madelung's syndrome. Over a period of 5 years, 6 men were treated for this disease at the ENT Department of the School of Medicine, Comenius University in Martin. Four of these patients had hepatopathy, two diabetes mellitus, and in two gynecomasty was observed. Surgical treatment yielded satisfactory functional and cosmetic results.

Adult↗
PubMed1989

[Madelung's syndrome].

Symmetrical lipomatosis of the neck (Madelung's syndrome) in a 52-year-old man abusing alcohol is described.

Alcoholism↗
PubMed1986

[Launois-Bensaude disease. Treatment with wide transverse cervicotomy].

Launois-Bensaude disease (known in English-speaking countries as Madelung's disease) is a diffuse, symmetrical lipomatosis predominant on the neck, face and trunk. All the anterior cervical lipomas can be removed by a wide transverse cervicotomy without danger for the major neural structures (spinal, and facial nerves, cervical plexus). This technique was used in three patients with satisfactory cosmetic and functional results and without recurrence.

Adult↗
PubMed1988

[Cervical lipoma or Launois-Bensaude syndrome].

The authors report a clinical case of a borderline form between two types of lipomatosis: simple lipoma and Made-lung's disease. The authors review the clinical features of these two diseases and stress the fundamental importance of the intraoperative appearance. The diagnosis in the present case was that of cervial lipoma.

Diagnosis, Differential↗
PubMedDate not supplied

Angioarchitecture of the atrophic pancreas.

The pancreas has a complex vasculature which comprises both exocrine and endocrine structures. Copper deficiency induces highly selective acinar cell degeneration and progressive noninflammatory lipomatosis in pancreas while Langerhans islets, ducts, and nerves remain unaffected. Pancreatic vasculature was examined in rats that had dietary copper deficiency to characterize changes in the angioarchitecture of the gland. This model was used to assess the degree to which the vasculature of non-acinar components of the gland are potentially altered under conditions of exocrine atrophy. Ultrastructure of pancreas was examined by histology, enzyme histochemistry and immunohistochemistry, corrosion casting and scanning electron microscopy, in situ vascular staining, microsphere injection, biochemical analysis, and morphometry in copper-deficient rats. Results show that no acute angiopathic changes indicative of vascular disorganization accompany atrophy. Only a reduction in the complexity of the capillary beds, which normally vascularize the dense acinar parenchyma, was found. Microsphere quantitation also showed that blood flow to the lipomatous gland remains intact. Furthermore, analysis of the angioarchitecture of the atrophied pancreas supports a largely autonomous blood supply to islets and ducts. These observations support the hypothesis that while the vasculature of the atrophied gland is modified in vascular regions severely targeted by acinar necrosis, the overall structural features of the angioarchitecture are preserved. The atrophied gland thus provides an experimental model to study the vascular routes supplying islet and ductal blood flow within the complex pancreatic circulation.

Animals↗
PubMed1987

Severe proteus syndrome in an 18-month-old boy.

We describe an 18-month-old Greek boy with macrocephaly, partial gigantism of hands and feet, hemihypertrophy, pigmented nevi, and other anomalies compatible with the Proteus syndrome. Cerebral involvement in a most severe form and at an early age concurs with the suggestion that encephalocraniocutaneous lipomatosis may represent a more circumscriptive manifestation of Proteus syndrome. Localized triggering of several growth factors is a challenging pathogenetic consideration of the syndrome.

Bone Diseases↗
PubMed1984

Elephantiasis neuromatosa. A light, immunohistochemical and electron microscopic study.

An example of elephantiasis neuromatosa, an unusual variant of neurofibromatosis, coexistent with lipomatosis is presented. This dual cell population produced a diffuse swelling of the gluteal sulcus of a young female. The neurogenous origin of the spindle cell component was substantiated by immunoreactivity for S-100 protein as well as by the fine structural observation of a regular basement membrane coating and a profusion of Luse bodies. As far as can be ascertained, this is the first reported immunohistochemical and ultrastructural study of this particular variant of peripheral nerve sheath lesion.

Adolescent↗
PubMed1987

Radiologic findings in the Proteus syndrome.

The radiological findings in two patients with the Proteus syndrome are described. Features in our two cases not previously mentioned or stressed include vertebral dysplasia and enlargement (megaspondylodysplasia), bilateral genu valgum, recurrent after surgery and intraabdominal and mesenteric lipomatosis. Emergency laparotomy was performed on the first patient who had a twisted necrotic portion of mesenteric fat. Macrodactyly, skeletal muscle atrophy and subcutaneous fat accumulation in the abdominal wall were present in both. In addition the second patient was mentally retarded and had frontal bony prominence of skull. Computed tomography was used for the specific diagnosis of the lipomatous tissues in both patients.

Bone and Bones↗
PubMed1994

MR imaging of benign fatty tumors in children: report of four cases and review of the literature.

This study correlates the magnetic resonance imaging characteristics with the pathologic findings in rare benign fatty soft tissue tumors in four children. A review of the literature is presented. Two cases of infiltrating lipoma displayed bright signal on both T1- and T2-weighted images, similar to that observed in subcutaneous fat. Histological study revealed extensive muscle infiltration by mature fat, with some areas of total fatty replacement. The case of facial lipomatosis revealed an extensive process of fatty invasion of adjacent soft tissue and osseous deformity by mass effect of the tumor. This lesion was bright on T1- and T2-weighted images. Histopathologic examination showed widespread invasion of squamous mucosa and skeletal muscle. The single case of lipoblastoma involved the presacral region and right buttock. This lesion, although bright on both T1 and T2 weighting, was relatively hypointense to subcutaneous fat on T1. Microscopic examination revealed a well-encapsulated fatty mass made up of cells ranging from lipoblasts to mature lipocytes. In childhood, when fatty lesions are almost always benign, a morphologic characterization by magnetic resonance may be sufficient basis on which to make critical therapeutic judgements.

Adolescent↗