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PubMed1990

Multiple symmetric lipomatosis. Ultrastructural investigation of the tissue and preadipocytes in primary culture.

Multiple symmetric lipomatosis (MSL) is characterized by enlarging, painless fat deposits in the neck and upper trunk. The pathogenesis of MSL is unknown. Owing to localization of MSL fat deposits in the neck and interscapular region, it has been suggested that they could originate from brown fat. However, the histological appearance of MSL adipose tissue is that of white fat, with prevailing monovacuolar adipocytes. Nevertheless, MSL adipocytes are smaller than adipocytes of the common white adipose tissue and show peculiar metabolic features. The ultrastructure of MSL lesions has been not described. The present work investigated the ultrastructural morphology of MSL adipose tissue and lipomatous adipocyte precursors maintained in long-term culture. Samples of lipomatous tissue were obtained from patients affected with MSL undergoing surgical lipectomy. Portion of the tissue was processed for electron microscopy; the rest was digested with collagenase, and isolated preadipocytes from the stromal-vascular fraction were cultured up to 15 days. Cultured cells were prepared for electron microscopy in situ and their morphology compared with human white adipose tissue preadipocytes and rat brown preadipocytes cultured in parallel. Results show the following. 1) Adipocytes of MSL are not monovacuolar and resemble the largest adipocytes that can be found in rat and human brown fat. 2) Some morphological features of MSL adipocyte precursors resemble brown adipocyte more than white: cultured MSL preadipocytes transiently develop large mitochondria with parallel cristae resembling those of the brown fat cell and maintain a multivacuolar lipid deposit in culture, i.e. a typical feature of brown preadipocytes. 3) Some morphological features suggest a neoplastic nature of MSL adipocytes. Taken together, these findings suggest that MSL is a neoplastic disease which could originate in brown fat.

Adipose Tissue↗
PubMed1989

[Characteristics of the formation of fat deposits in circumscribed lipomatosis of the neck and variants of surgical approaches to them].

During 15 years operations for circular lipomatosis of the neck (Madelung syndrome) were performed to 73 patients. Three variants of incisions (accesses) for removal of the fat accumulation from anterior areas of the neck are developed and described: 1) auriculo-mastoido-hypoglossal; 2) supraclaviculo-sternal; 3) cleidosternal The occipito-suprascapular incision is proposed for removal of fat accumulations from posterior areas of the neck.

Adult↗
PubMedDate not supplied

[Benign symmetrical lipomatosis--an occupational disease following exposure to tar?].

A recent publication poses the question of a relationship between workers exposed to tar and their tendency to develop benign symmetric lipomatosis (bsL). As this publication has already caused new problems for the assessment of tar exposure, the side effects of tar on the skin and the pathogenesis of bsL using the available literature are discussed. To date, it is not possible to present a coherent pathogenetic model of tar-induced bsL.

Dermatitis, Occupational↗
PubMed1997

Mitochondrial DNA mutations in multiple symmetric lipomatosis.

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.

Adult↗
PubMed1998

[Lipoma, multiple lipomas and lipomatosis].

Lipomatous tumors are very frequent; simple lipoma is the most common variety. According to Enzinger, lipomatous tumors are classified into five different groups: simple lipomas, variant lipomas forms, heterotopic lipomas, infiltrating lipomas and lipomatosis, and finally hibernomas. Usually, lipomatous tumors are characterized by a slow, unpainful, growth. Classical treatment includes surgical resection. The clinical diagnosis is confirmed by histology. Liposucion can be a therapeutic option in certain cases.

Adipose Tissue↗
PubMed2000

Lipomatosis, proximal myopathy, and the mitochondrial 8344 mutation. A lipid storage myopathy?

Multiple symmetric lipomatosis (MSL) has been related in some cases to the 8344 point mutation of the tRNA-lysine gene of the mitochondrial DNA, mainly in the context of families with classic myoclonic epilepsy with ragged-red fibers (MERRF) and exceptionally in patients with proximal myopathy as the only manifestation of mitochondrial disease. We report on two families harboring the 8344 mutation. The patients presented with MSL and myopathy, expressed as limb girdle weakness in index cases and as exercise intolerance in the others. All muscle biopsies performed showed lipid storage apart from RRF and respiratory chain complexes deficiency. A possible explanation for both adipose proliferation and lipid storage myopathy in these cases is a disturbance in intermediary lipid metabolism secondary to mitochondrial respiratory chain deficiency that could be related via carnitine deficiency.

Adolescent↗
PubMed1992

Encephalocraniocutaneous lipomatosis and the Proteus syndrome: distinct entities with overlapping manifestations.

We have studied three children with cutaneous (epidermal nevi), subcutaneous (lipomas, plantar skin thickening), vascular (hemangioma, lymphangioma), skeletal (osteoma, exostosis, localized hypertrophy), and neurological (hydrocephaly, lissencephaly, partial agenesis of the corpus callosum) developmental defects associated with the Proteus syndrome and related hamartoneoplastic conditions. We compared our findings in these three patients with those of 50 others with Proteus syndrome and nine with encephalocraniocutaneous lipomatosis (ECCL) reported in the literature. We found that Proteus syndrome and ECCL have distinct identities even though some clinical manifestations are shared by both and a few patients have manifestations of both conditions.

Bone Neoplasms↗
PubMed2005

Plantar lipomatosis, unusual facies, and developmental delay: confirmation of Pierpont syndrome.

In 1998, Pierpont et al. reported on two unrelated boys with plantar lipomatosis, unusual facial phenotype, and developmental delay as a possible new MR/MCA syndrome. Here we report on a 2-year-old boy with similar manifestations: axial hypotonia in the first few months, prolonged feeding problems, moderate developmental delay, no speech development, deep palmar and plantar grooves, fat pads at the anteromedial aspect of the heels, and a distinct facial phenotype (high forehead, high anterior hairline, mild midfacial hypoplasia, remarkably narrow and upward slanted palpebral fissures, broad nasal ridge and tip, broad philtrum, bowed upper lip, "pouting" lower lip, full cheeks, and flat occiput). Brain MRI and MR spectroscopy studies showed relatively small frontal lobes, some widening of the lateral and third ventricles, and increased choline levels in the frontal white matter. Cytogenetic studies in lymphocytes and skin fibroblasts and whole genome micro-array CGH failed to show abnormalities. The present patient has a phenotype almost identical to that of the earlier reported children (Pierpont et al. [1998]: Am J Med Genet 75:18-21), which thereby validates this as a separate MR/MCA syndrome, appropriately designated Pierpont syndrome. The cause of the entity remains uncertain, the most likely etiologies being X-linked recessive or autosomal dominant genes.

Abnormalities, Multiple↗
PubMed2006

Oculocerebrocutaneous and encephalocraniocutaneous lipomatosis syndromes: blind men and an elephant or separate syndromes?

The discovery of relevant causative genes has subdued the lumping versus splitting debate with respect to a growing number of syndromes. However, it remains paramount to define unknown genesis syndromes as precisely and appropriately as possible in order to provide accurate prognosis and to facilitate future research. The presentation of a 14-month-old girl, of normal intelligence, who had a colobomatous right eye with cyst, minor intracranial MRI variants, and an area of sparse scalp hair containing a 1 by 1.5 cm, soft, domed, and indented skin lesion suggested a diagnosis of mild oculocerebrocutaneous syndrome (OCCS). An initial exploration of the literature exposed the extreme variability in cases that have been reported as OCCS, and emphasized its possible relationship to encephalocraniocutaneous lipomatosis (ECCL), thus challenging the initial diagnosis. Cases reported, or discussed by others, as possible OCCS (40) and ECCL (44) were reviewed as completely as possible in an effort to determine whether diagnostic criteria could be developed for these syndromes, and to see whether or not evidence favored their continued separation as two syndromes. The approach used was to summarize the data for all cases, to select major and minor diagnostic criteria on the basis of the relative specificity and/or frequency of a sign, to then apply the criteria in a standard fashion and to review the outcome to see if the classification of cases made clinical sense, and to make appropriate adjustments. The criteria were not chosen so as to separate the syndromes and in some instances the same criteria could apply to either syndrome. An approach is outlined for handling reports of patients that purport to be variants or to expand the spectrum of a syndrome, and in the case of OCCS and ECCL this resulted in most such examples being excluded. Application of diagnostic criteria suggests that OCCS and ECCL are distinct, and that some case reports, including some purporting to expand the spectrum of OCCS, should be excluded, at least until such time as the etiology of these conditions is known and those cases can be tested. These diagnostic criteria were developed on the basis of literature reports that varied in their quantity and quality of detail. Furthermore, in many cases reliance had to be placed on copies of original studies with resultant degradation of photographic information. Modern ocular imaging, and histopathology of eye and skin malformations, will often clarify the specific nature of a malformation and, therefore, define exact diagnostic criteria and leave fewer uncertain cases. In the absence of anomalies in those systems, or if histopathology or appropriate imaging is unavailable, the diagnosis in some cases will continue to remain uncertain; this is not an argument for lumping the syndromes.

Abnormalities, Multiple↗
PubMed2004

Encephalocraniocutaneous lipomatosis accompanied by maxillary compound odontoma and juvenile angiofibroma: report of a case.

BACKGROUND: Encephalocraniocutaneous lipomatosis (ECCL) is a rare neurocutaneous syndrome characterized by congenital cutaneous, ocular, and neurologic abnormalities, which may be pronounced in the head and neck. CASE: In this article we present a well-documented case of a six-year-old boy with ECCL associated with oral manifestations. In this case, typical features such as large lipomatous brown pigmented plaques of the top of the skull with overlying alopecia, ptotic eyelid with decreased function, bulbar conjunctiva lipodermoid, microcalcifications and atrophy of cerebral parenchyma, and the widening of the frontal subarachnoid space and the fissure of Sylvius were accompanied by intraoral lesions, maxillary compound odontoma, and juvenile extranasopharyngeal angiofibroma of the gingiva. CONCLUSIONS: Although cases of odontomas have already been described and angiofibromas are a quite common extraoral finding, to our knowledge this is the first case of intraoral evaluation of both extranasopharyngeal juvenile angiofibroma and maxillary compound odontoma in ECCL syndrome.

Angiofibroma↗
PubMedDate not supplied

Benign symmetrical lipomatosis (Madelung's disease).

Two patients with benign symmetrical lipomatosis (madelung's disease) have been followed for 7 and 9 years. Despite extensive surgical procedures, both patients have developed multiple recurrences. Lipomas and normal adipose tissue from the same patients were compared using chromatographic techniques. The lipomas contained significantly increased triglyceride fractions. Conservative surgical debulking is the recommended treatment.

Adipose Tissue↗
PubMed1995

Neurological multisystem manifestation in multiple symmetric lipomatosis: a clinical and electrophysiological study.

Multiple symmetric lipomatosis (MSL) is characterized by a typical neck and shoulder distribution of subcutaneous lipomata and is often associated with polyneuropathy. Occasionally, the central nervous system (CNS) can be involved. Twelve of 14 patients in this retrospective study had clinical or electrophysiological evidence of a predominantly axonal polyneuropathy. Among those were 10 with alcohol abuse, but 2 patients without alcohol abuse also showed clinical or electrophysiological polyneuropathy. Clinical CNS involvement was present in 4 patients. CNS dysfunction was documented by evoked potentials in 8 subjects [prolonged latency or low amplitude of the motor response following cortical magnetic stimulation (4 patients), abnormal visually evoked potentials (4 patients) or somatosensory evoked potentials (SEP) (4 patients)]. These findings were compared to 10 chronic alcoholics without clinical signs of MSL. Five of these showed mild sensory neuropathy. Additionally, 2 also had delayed SEP latencies. Motor evoked potentials were normal in all controls. We propose that the multisystem involvement in MSL demonstrated here cannot be attributed to alcohol abuse alone. Biochemical studies have suggested mitochondrial dysfunction as the basis of the widespread neurological pathology in MSL.

Adult↗
PubMed2002

Multiple symmetric lipomatosis may be the consequence of defective noradrenergic modulation of proliferation and differentiation of brown fat cells.

Multiple symmetric lipomatosis (MSL) is an inherited disorder in which enlarging and unencapsulated lipomas symmetrically develop in the subcutaneous tissue of the neck, shoulders, mammary, and truncal regions. In some cases, it is associated with mitochondrial DNA abnormalities. The pathogenesis of MSL is completely unknown, although the fat deposits may be due to a neoplastic-like proliferation of functionally defective brown adipocytes. It has recently been demonstrated that the beta(3)-adrenergic receptor is the functionally relevant adrenergic receptor subtype in brown adipocytes and that its stimulation by noradrenaline (NA) modulates the expression of genes, such as uncoupling protein (UCP)-1 and inducible nitric oxide synthase (iNOS), involved in fat cell proliferation and differentiation. Furthermore, Trp64Arg mutation of the beta(3)-adrenoceptor has been implicated in lower NA activity in adipose tissues. The aim of this study was to investigate the molecular and functional characteristics of MSL adipocytes and to analyse the effects of nitric oxide (NO) on the proliferation/differentiation of MSL adipocytes in culture, and the relevance of putative noradrenergic deficit in the development of lipomas in MSL patients. Cultured MSL adipocytes were able to synthesize UCP-1 (the selective marker of brown adipocytes), but unlike that of normally functioning brown fat cells, the expression of the UCP-1 gene was not significantly induced by NA. NA is also defective in inducing iNOS gene expression, thus leading to reduced NO production and a consequent reduction in the anti-proliferative, adipogenic (mitochondrial biogenesis) effects of NA on MSL cells. Furthermore, the transcriptional peroxisome proliferator-activated receptor gamma co-activator-1 (PGC-1), which plays a key role in the sympathetic-stimulated mitochondrial biogenesis of brown adipocytes, is expressed but not induced by NA in MSL cells, as it is in brown adipocytes. The study did not find any association between beta(3)-adrenoceptor gene polymorphism and noradrenergic signalling defects in MSL subjects with or without mitochondrial DNA mutations.

Adipocytes↗
PubMed1995

RFLP analysis of human chromosome 11 region q13 in multiple symmetric lipomatosis and multiple endocrine neoplasia type 1-associated lipomas.

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.

Alleles↗
PubMed1987

[Lipomatosis cordis as a cause of ventricular perforation in implantation of a pacemaker probe].

A case report is given on lethal perforation of the right ventricle during emergency implantation of a pacemaker probe. The forensic autopsy revealed extensive lipomatous infiltration of the right ventricle in the rupture area. Lethal complications occur occasionally in spite of the standardization of implantation techniques, especially as a result of reanimation attempts. Such cases are discussed with regard to the forensic aspects with reference to the literature. Lipomatosis cordis as "locus minoris resistentiae" has special significance for ventricular perforation.

Aged↗