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Cicatricial upper eyelid retraction in encephalocraniocutaneous lipomatosis: a report of two cases and review of literature.

PURPOSE: To describe two patients with encephalocraniocutaneous lipomatosis (ECCL) and to review the literature on this disorder. METHODS: Brain and orbit CT scans were performed on two patients with ECCL. Both patients were examined by the same ophthalmologist and neurologist during at least a 2-year follow-up period. RESULTS: Unilateral skull hamartomas, intracranial abnormalities, epibulbar choristomas, and ocular adnexal changes including a specific form of cicatricial upper eyelid retraction were present in both patients. CONCLUSIONS: ECCL is a special form of oculocerebrocutaneous disease that has significant adnexal findings that are essential for the diagnosis of this rare disorder.

Brain↗

Encephalocraniocutaneous lipomatosis: case report and review of the literature.

PURPOSE: Encephalocraniocutaneous lipomatosis is a congenital neurocutaneous syndrome characterized by lipomatous craniofacial hamartomas. The most common ocular manifestation is epibulbar choristoma, but many additional eye anomalies may be present. METHODS: To our knowledge, this is the first reported case with bilateral aniridia. We report a case of a boy affected by this syndrome and review the literature. CONCLUSION: Regarding this case, we suggest adding aniridia to the possible ocular anomalies in this syndrome.

Brain Diseases↗

Double-ring esophageal sign: pathognomonic for esophageal lipomatosis.

The peculiar appearance of the proximal esophagus on CT attributed to esophageal lipomatosis is not well recognized. We have recently encountered seven cases from over a period of 2 months and report them to reach a broader audience of radiologists who may be unaware of its existence. Its typical CT features should lead to the correct diagnosis and be differentiated from other fatty lesions known to involve the esophagus, namely, lipoma and liposarcoma.

Administration, Inhalation↗

Multiple symmetric lipomatosis: an updated clinical report.

A systematic survey of 19 male patients with multiple symmetric lipomatosis (MSL) gives evidence for newly delineated and clinically relevant features of the disease. Signs and symptoms of a hitherto unrecognized severe peripheral and autonomic neuropathy were observed in all patients. A mediastinal location of lipomatous tissue was identified by computed tomography in five patients, with clinical evidence of a space-occupying syndrome in four of them. A further deep location of lipomatous tissue below the trapezius muscle, independent of the involvement of the overlying subcutaneous adipose tissue, was demonstrated in seven patients. Alcohol-related abnormalities in liver function tests were present in 10 of 19 patients. The disease is characterized by peculiar metabolic abnormalities, such as marked increase in adipose tissue lipoprotein lipase activity, a plasma hyperalphalipoproteinemia and a specific defect of the adrenergic-stimulated lipolysis in lipomatous tissue. Finally, a red blood cell macrocytosis or overt macrocytic anemia and abnormalities in liver function tests were found in MSL patients, related to elevated alcohol intake. An 8-year follow-up of nine MSL patients demonstrated that peripheral neuropathies and space-occupying mediastinal syndromes represent the most incapacitating, sometimes rapidly progressive, complication of MSL.

Adult↗

Benign symmetrical lipomatosis. Case report.

We present a patient who had benign symmetrical lipomatosis. He was treated surgically (6 operations), and the results were satisfactory. we discuss various factors in this disease and suggest the possibility of a nonsurgical treatment being developed in the future.

Humans↗

Familial multiple lipomatosis.

The literature on familial multiple lipomatosis is reviewed, and a striking case is described. The associated family history is outlined. Excisional biopsy is advocated when there is doubt in terms of diagnosis, pain, or functional impairment.

Adolescent↗

Minimally invasive approach to familial multiple lipomatosis.

Thirty-five abdominal wall lipomas were removed from a patient with familial multiple lipomatosis using a minimally invasive approach in a cost-effective, reliable, and cosmetically pleasing manner. The surgical technique used is described in this case report. Clinical findings and prior excisions provided the preoperative diagnosis. The abdominal wall was dissected through two small, vertical midline incisions in the suprafascial plane with the aid of a lighted breast retractor. A complete excision of all palpable lipomas was achieved with this approach. The patient had excellent cosmetic results with minimal postoperative scarring.

Abdominal Muscles↗

Pelvic lipomatosis.

A case report of pelvic lipomatosis in a woman is presented. This condition is a benign, apparently self-limited disease in which mature adipose tissue is deposited in the pelvis. The clinical presentation is discussed.

Adult↗

Benign symmetric lipomatosis (Madelung's disease).

A black man with benign symmetrical lipomatosis had extensive complete surgical removal of lipomas in the neck and shoulder regions, with an excellent functional result. Despite previous reports advocating conservative surgical debulking, we believe that adequate excision under direct exposure can produce a permanent cure of these tumors.

Adult↗

Multiple symmetrical lipomatosis: computed tomographic appearance.

In a case of localized multiple symmetrical lipomatosis (Madelung's disease), we examined the cervical fat accumulation by computed tomography. We describe the radiographic features of this process and briefly review the pathophysiology of this rare disorder.

Head and Neck Neoplasms↗

Thoracic spinal epidural lipomatosis associated with adolescent scoliosis.

Although a variety of neural axis abnormalities in association with idiopathic scoliosis have been reported, there are no documented cases of spinal epidural lipomatosis (SEL) in a child with scoliosis. An otherwise healthy, neurologically intact 14-year-old girl presented with spinal deformity. Radiographs confirmed a left thoracic, right lumbar Lenke class 5CN scoliosis. Preoperative magnetic resonance imaging (MRI) demonstrated extensive SEL in the thoracic spine. She underwent posterior spinal fusion with segmental instrumentation using bony anchors that did not violate the spinal canal. Intraoperative spinal cord monitoring and postoperative clinical course were uneventful. SEL should be added to the list of potential abnormalities to be looked for in children with spinal deformities undergoing preoperative MRI of the neural axis.

Adolescent↗

Spinal epidural lipomatosis: a case study.

Spinal epidural lipomatosis (SEDL), an abnormal localized or tumor-like accumulation of fat in the epidural space, is an infrequent complication of chronic steroid usage and an uncommon cause of spinal cord compression. A patient with a primary malignant brain tumor on chronic corticosteroids presented with a clinical picture of cord compression and was diagnosed with SEDL.

Adrenal Cortex Hormones↗

Benign symmetrical lipomatosis of the hands.

Benign symmetrical lipomatosis (BSL) is a disease characterized by massively symmetrical fat deposits predominantly in the neck and shoulder girdle area. The disease is frequently associated with alcoholism, hepatopathy, glucose intolerance, hyperuricemia, and malignant tumors. We describe a patient with BSL of the dorsal surfaces of both hands.

Diagnosis, Differential↗

Non-symmetric subcutaneous lipomatosis associated with familial combined hyperlipidaemia.

A family with familial combined hyperlipidaemia in which affected members had nonsymmetric subcutaneous lipomatosis (NSSCL) is described. Affected members had high serum levels of total cholesterol, low density lipoprotein (LDL) cholesterol and high density lipoprotein (HDL) cholesterol. By contrast, family members without NSSCL had normal lipid levels. There was also a correlation between the degree of hyperlipidaemia and the amount of subcutaneous lipomas. The occurrence of hyperlipidaemia in family members with NSSCL suggests the existence of a genetic linkage between these two characteristics, but did not show any association with HLA haplotyping. To our knowledge this association between lipid abnormalities and NSSCL has not been previously reported.

Adolescent↗

Benign symmetric lipomatosis.

We report a case of massive, benign symmetric lipomatosis associated with laryngeal compression. Current views on the aetiology and management of this rare disease are discussed.

Aged↗

Lipectomy in the treatment of scrotal lipomatosis.

Scrotal lipectomy was performed in 102 infertile patients with scrotal lipomatosis; suprapubic lipectomy was included in 22 patients who had redundant suprapubic fat. Improvement in semen quality was obtained in 64.7% and pregnancy occurred in 19.6%. Statistically, the improvement was significant in both the sperm count and motility of the total series and only in the sperm count in the cases which produced pregnancy. The technique is described and the factors to which the results may be attributed are discussed.

Adipose Tissue↗