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At least 343 records · Page 19Linked to original sources
PubMed2000

Encephalocraniocutaneous lipomatosis (Fishman syndrome): a rare neurocutaneous syndrome.

Encephalocraniocutaneous lipomatosis (ECCL) is a rare congenital neurocutaneous syndrome comprising unilateral cranial lipomas, lipodermoids of the eye and brain abnormalities. A 3-year-old boy who presented at birth with a scalp lipoma and an ipsilateral epibulbar lipodermoid is described. Infantile spasms developed at 9 months of age and cerebral imaging showed thickened and calcified cortex at the right occiput and hemiatrophy of the right hemisphere. These features were consistent with ECCL. Most children with ECCL have significant developmental delay, but we have found that control of seizures was associated with a significant improvement in developmental outcome.

Brain↗
PubMed2003

Multiple symmetric lipomatosis: Korean experience.

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.

Adult↗
PubMed2003

Diffuse locally invasive lipomatosis of the pericardium.

The chest radiographic, echocardiographic (transthoracic and transesophageal), MRI, CT and cardiac catheterization findings in a 72-year-old patient with extensive pericardial lipomatosis are presented. Diastolic pressures in the left heart were elevated. The massive lipomatous mass was partially resected surgically with good symptomatic relief. Histologically the neoplasm consisted of mature non-malignant adipose tissue. Cushing's Syndrome was absent.

Aged↗
PubMed2000

Multiple symmetric lipomatosis: an unusual cause of childhood obesity and mental retardation.

Multiple symmetric lipomatosis (MSL), also known as Launois-Bensaude syndrome or Madelung's disease, is a rare disorder predominantly seen in middle-aged male patients. The disorder is characterized by large subcutaneous fat masses distributed around the neck, shoulders, and other parts of the trunk, often associated with nervous system abnormalities. A close relationship to alcoholism, metabolic disturbances and malignant tumours has been observed. Until now, MSL has only been described in adults. We report on the first two children, a 9-year-old girl and a 13-year-old boy, with the characteristic clinical findings of MSL. The girl presented with severe obesity, developmental delay, mild mental retardation, peripheral neuropathy, and latent hypothyroidism. In addition, she had elevated lactate concentrations in blood and cerebral spinal fluid suggesting mitochondrial dysfunction. Biochemical analyses of muscle showed a respiratory chain complex II deficiency. The boy suffered from severe obesity, mild mental retardation and insulin resistant diabetes mellitus. In both children, analyses of the mitochondrial genome did not reveal major deletions nor the MERRF 8344 point mutation. MSL seems to be a new neurometabolic disorder with heterogeneous clinical expression whose pathogenesis is still unknown.

Adolescent↗
PubMed2001

Benign symmetric lipomatosis with myelomeningocele in an adolescent: An uncommon association-case report.

The authors report an unusual localization of symmetric adipose tumors associated with spinal dysraphism. Initially, the patient underwent a closure of the lumbosacral myelomeningocele. At that time, the tumors were not evident and remained undiscovered up until puberty. However, during puberty, the symmetric lipomatous masses grew at the perineal region. Except the patient's age, all findings and the clinical picture supported the diagnosis of a benign symmetric lipomatosis (BSL). To the authors' knowledge, the following case has not been described previously.

Adolescent↗
PubMed1999

[Clinical aspects and therapy of benign symmetrical lipomatosis--Madelung disease].

The clinical picture, diagnosis, therapy, and theories on the etiology of benign symmetric lipomatosis (Madelung disease) are outlined. Personal experience from 62 operations on 28 patients is compared to the literature. Up to now, there is only palliative surgical treatment for this sporadically appearing disease of unknown etiology. Liposuction--a less traumatic treatment--has considerably facilitated the treatment of the circumscribed fatty hyperplasias. The surgical characteristics of different anatomical regions are pointed out.

Adult↗
PubMed1998

[Benign symmetrical lipomatosis ("peripheral lipodystrophy") during antiretroviral therapy of HIV infection].

HISTORY AND ADMISSION FINDINGS: A 29-year-old hemophiliac with HIV infection for which he was receiving antiretroviral treatment (ART) with indinavir, zidovudine and zalcitabine reported increasing swelling of the neck. Physical examination noted a soft to doughy swelling, not sensitive to pressure, extending from the neck to between the shoulder blades. INVESTIGATIONS: Ultrasonography and magnetic resonance imaging revealed the swelling to consist of an accumulation of subcutaneous fat without capsule. Cytology demonstrated benign fatty tissue. Blood triglycerides totalled 667 mg/dl. DIAGNOSIS, TREATMENT AND COURSE: The typical location, absence of a capsule and the cytological finding confirmed the clinical diagnosis of drug-induced benign symmetrical lipomatosis (BSL, also called peripheral lipodystrophy) in ART. A connection with the hyperlipoproteinaemia is supported by the observation that the patient used to have a normal fat metabolism; the onset of BSL coincided with a massive increase in triglyceride levels. The hyperglyceridaemia and clinical signs improved on a low-fat diet. CONCLUSIONS: BSL can occur in the course of ART in HIV infection, when reverse-transcriptase inhibitors or protease inhibitors are being taken. Medication should not be changed, when antiretroviral treatment is adequate. To reduce the symptoms low-fat diet should be tried, as well as administration of HMG-CoA-reductase inhibitors or, if necessary, surgical liposuction.

Adult↗
PubMed1983

Echo-free and relatively echo-free "renal sinus lipomatosis".

Eleven echo-free and 37 relatively echo-free peripelvic lesions, primarily interpreted as sinus lipomatosis by experienced sonologists, were examined using CT. Eight echo-free lesions proved to be cysts and only three "fibrous fat". Hypodense peripelvic fat accumulations were not totally echo-free in any of the cases, but tended to show up weak echos.

Cysts↗
PubMed1988

[Epidural lipomatosis as a complication of a long-term glucocorticoid therapy].

In a 47-year-old patient with asymmetrical proximal paraparesis a long cervical and thoracic spinal epidural lipomatosis was found, by computed tomography and (the first such case) magnetic resonance imaging, to be the cause of the signs of a transverse cord lesion. Such a space-occupying mass is a rare complication of long-term corticosteroid medication--in this case administered for over seven years for bronchial asthma. Contrary to the majority of similar reported cases, no decompression operation was performed, because the neurological signs had not progressed and the clinical findings in fact quickly regressed once the steroid dosage had been reduced and they showed a clear dependence on the amount of steroid administered.

Adolescent↗
PubMed1987

[Mesenteric lipomatosis. A rare disease often misdiagnosed as ascites].

A 53-year-old man, a known alcoholic, was admitted to hospital, because of abdominal swelling, with the admission diagnosis of ascites. Treated with diuretics a severe hypokalaemia developed with subileus and moderate clouding of consciousness. Computed tomography revealed the correct diagnosis of intraabdominal extraperitoneal (mesenteric, pelvic, retroperitoneal) soft-tissue lipomatosis.

Alcoholism↗
PubMed2002

Neurocutaneous melanosis in association with encephalocraniocutaneous lipomatosis.

We describe a white female infant with neurocutaneous melanosis (NCM) and encephalocraniocutaneous lipomatosis (ECCL). Multiple, giant and small congenital melanocytic nevi (CMN) were observed on the head, neck and trunk and involved 70% of body surface area. Histologic examination of several CMN revealed atypical nodular proliferations of dermal nevomelanocytes. In a small (<1 cm) truncal CMN, single and dyscohesive intraepidermal nests of atypical nevomelanocytes simulating a superficial spreading melanoma, were observed. The placenta was grossly normal and histologically demonstrated multiple banal appearing nevomelanocytes within the stroma of its villi. At the 17-month follow-up no evidence of primary or metastatic melanoma was present. This previously undescribed association of NCM, ECCL and placental nevomelanocytes provides strong support for the hypothesized causal role of anomalous neural crest morphogenesis and migration in the development of all three disorders. The genetic mechanism underlying these complex birth defects has been hypothesized to result from the action of lethal autosomal dominant genes surviving by mosaicism.

Eye Diseases↗
PubMed2005

Idiopathic spinal epidural lipomatosis.

We report a rare case of paraparesis caused by thoracic spinal epidural lipomatosis in a female patient who did not have any recognized predisposing factor for this condition.

Adult↗
PubMed1985

Alimentary tract ganglioneuromatosis-lipomatosis, adrenal myelolipomas, pancreatic telangiectasias, and multinodular thyroid goiter. A possible neuroendocrine syndrome.

Diffuse, alimentary tract ganglioneuromatosis-lipomatosis, bilateral adrenal myelolipomas, pancreatic telangiectasias, and a multinodular thyroid goiter were found at autopsy in a 56-year-old, white male with a history of insulin-dependent diabetes, hypertension, peptic ulcer, and remote cerebral infarction. The degree of atherosclerosis, arterionephrosclerosis, and cardiac disease found at autopsy did not correlate with the patient's history or his sudden death. The typical features of the multiple endocrine neoplasia syndrome, type II-B, were not identified. The findings in this patient may represent a variant of the multiple endocrine neoplasia complex, or a separate, previously unrecognized syndrome.

Adrenal Gland Neoplasms↗
PubMed1989

Interstitial myocardial lipomatosis: a morphological study on endomyocardial biopsies and diseased hearts surgically removed for heart transplantation.

A morphological study was designed to assess on histological grounds the frequency and degree of interstitial adipose tissue in the myocardium of diseased and transplanted hearts. A review was conducted on 144 right ventricular histological sections (RVs) from hearts surgically resected for heart transplantation, 115 endomyocardial biopsies (EMB) from 100 patients investigated for dilated cardiomyopathy (DCM), and 309 biopsies from 26 heart-transplant patients. Interstitial lipomatosis (IL) was the preferred term to describe the mere presence of adipose tissue in the myocardium, and the arbitrary classification of grade 0, 1, and 2 IL was devised to collect data. Only grade 2 IL was considered as potentially pathological. Morphometric analysis was adopted on the 144 RVs from surgical hearts; only a morphological approach was preferred for the EMB. Grade 2 IL was observed in 58/144 RVs (40.27%), in 5/365 (1.3%) myocardial samples from 115 EMB in patients with DCM, and in 5/1296 (0.38%) myocardial samples from 309 biopsies of 26 transplants. Morphometric analysis of the surgical hearts revealed a case in which a significant grade 2 IL of the RV was associated with life-threatening ventricular arrhythmias.

Adult↗
PubMed2000

Germline and germline mosaic PTEN mutations associated with a Proteus-like syndrome of hemihypertrophy, lower limb asymmetry, arteriovenous malformations and lipomatosis.

Germline PTEN mutations cause Cowden syndrome (CS) and Bannayan-Riley-Ruvalcaba syndrome (BRR), two hamartoma-tumour syndromes, and somatic PTEN alterations have been shown to participate, to a greater or lesser extent, in a wide variety of sporadic neoplasia. PTEN is a tumour suppressor and dual-specificity phosphatase which affects apoptosis via its lipid phosphatase activity in the phosphoinositol-3-kinase and AKT pathway as well as inhibiting cell spreading via the focal adhesion kinase pathway. CS and BRR share some features, such as hamartomas and lipomatosis. To determine whether other syndromes characterized by overgrowth and lipomas are part of the PTEN syndrome spectrum, we ascertained six individuals with overgrowth and lipomas but who did not meet the diagnostic criteria for CS or BRR. Five had Proteus syndrome and one, a Proteus-like syndrome. When germline DNA and DNA from at least one involved tissue per case were examined for PTEN mutations, only the Proteus-like patient was found to harbour a germline R335X mutation. Interestingly, a lipomatous mass, an epidermoid naevus and arteriovenous malformation tissue, all of which were sampled from physically distinct sites, were all found to carry a second hit R130X mutation on the allele opposite the germline R335X. Both mutations have been described in CS and BRR. We postulate that the second hit, R130X, occurred early in embryonic development and may even represent germline mosaicism. Thus, PTEN may be involved in Proteus-like syndrome with its implications for cancer development in the future.

Arteriovenous Malformations↗
PubMed1989

Hereditary progressive nodular lipomatosis: a report and selective review of a new syndrome.

Multiple hereditary lipomatosis has been reported very rarely in the literature. The largest number of lipomas previously reported in a single patient was 160. We report on a 45-year-old man who began to experience multiple lipomas at about age 26. The lipomas multiplied until they severely disfigured his entire torso, arms, and upper legs. Both sides of his body were affected to approximately equal degrees. A family history revealed that the patient's father, two brothers, and two nephews have all experienced multiple subcutaneous lipomas, although to a lesser degree. In treating the patient, what appeared to be very large lipomas were in fact found to be subcutaneous clusters of hundreds of small encapsulated lipomas. Lipomas were excised using suction lipectomy to treat different involved areas on eleven separate occasions. A total of 8,475 cc was removed over a two-year period. A modified, slightly less blunt cannula was developed to aspirate the clustered lipomas individually.

Humans↗
PubMed1998

Benign symmetric lipomatosis (Madelung's disease).

Benign symmetric lipomatosis, also known as Madelung's disease, is a rare condition characterized by massive fatty deposits arranged symmetrically around the neck, shoulders, and arms. These patients might present for liposuction and body contouring. Although infrequently encountered in the average plastic surgeon's practice, this condition should be considered when evaluating candidates for these procedures. The deformity is associated with chronic alcohol use and also with malignant tumors of the upper airways. The deformity is prone to recurrence and its surgical treatment often results in less than optimal aesthetic outcomes. Despite this fact, surgical removal via either direct excision or suction-assisted lipectomy provides the only real hope of palliation. This report describes a patient with this deformity and a review of the literature.

Female↗