Special feature: picture of the month. Bannayan-Ruvalcaba-Riley syndrome.
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HYPOTHESIS: The causes and management of lower limb lymphedema in the Western population are different from those in the developing world. OBJECTIVE: To look at the differential diagnosis, methods of investigation, and available treatments for lower limb lymphedema in the West. DATA SOURCE: A PubMed search was conducted for the years 1980-2002 with the keyword "lymphedema." English language and human subject abstracts only were analyzed, and only those articles dealing with lower limb lymphedema were further reviewed. Other articles were extracted from cross-referencing. RESULTS: Four hundred twenty-five review articles pertaining to lymphedema were initially examined. This review summarizes the findings of relevant articles along with our own practice regarding the management of lymphedema. CONCLUSIONS: The common differential diagnosis in Western patients with lower limb swelling is secondary lymphedema, venous disease, lipedema, and adverse reaction to ipsilateral limb surgery. Lymphedema can be confirmed by a lymphoscintigram, computed tomography, magnetic resonance imaging, or ultrasound. The lymphatic anatomy is demonstrated with lymphoscintigraphy, which is particularly indicated if surgical intervention is being considered. The treatment of choice for lymphedema is multidisciplinary. In the first instance, combined physical therapy should be commenced (complete decongestive therapy), with surgery reserved for a small number of cases.
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We describe a patient with symptomatic multiple lipomas with volvulus. He complained of gradually increased abdominal pain and distention. Preoperative roentgenograms showed many rounded filling defects of the small intestine. Operation was performed to reduce intestinal obstruction and ileal resection was performed. The dilated ileum was rotated 720 degree clockwise and it contained 115 submucosal and 26 subserosal lipomas. Histologically, the lipomas were benign and consisted of well-developed fat tissue. The patient's postoperative course was satisfactory, and neither residual lipoma nor recurrence were found at barium enema examination two years after operation.
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A case report of liposarcoma occurring in a man with probable hereditary multiple lipomata and metastasizing to bone marrow is presented. The neoplasm was studied by light and electron microscopy. The first evidence for metastatic disease was myelophthisic anemia. This unusual clinical occurrence is discussed briefly in conjunction with other neoplasms causing myelophthisis.
Ultrastructural study of a case of benign lipoblastomatosis revealed a cellular spectrum which included undifferentiated mesenchymal cells, stellate myxoid cells, fibroblasts, lipoblasts, lipocytes and many intermediate forms. The uni- and multivacuolated fat cells contained membrane and non-membrane bound cytoplasmic vacuoles, predominatly of saturated lipid. Their cytoplasm also contained simple-structured mitochondria devoid of intramatrical or crystalloid bodies. The fine structure of the cellular components of lipoblastomatosis supports the concept that this is a neoplasm related to fetal white fat rather than to brown fat.
We describe a new autosomal dominant dysplasia-malformation syndrome from eight affected individuals in three generations of a Venezuelan family. It is characterized by congenital symmetrical upper lid and nasopalpebral lipomas, bilateral symmetrical upper and lower palpebral colobomas located at the junction of the inner and middle thirds of the lids, telecanthus, and maxillary hypoplasia. Affected individuals have a broad forehead, window's peak, abnormal pattern of eyebrows and eyelashes, and maldevelopment of the lacrimal punctae. Interorbital distance is normal, but interpupillary distance is increased due to divergent strabismus originating from visual interference from inner canthal masses. Persistent epiphora, conjunctival hyperemia, and corneal (and less frequently lens) opacities are a secondary consequence of the defect of the lacrimal punctae and the inability to close the lids completely. The syndrome has complete penetrance and a rather narrow range of expressivity. The primary defect could involve a dysplasia of adipose tissue leading to nasopalpebral and upper lid lipomas during embryogenesis, with the rest of the malformations being secondary to interference of morphogenesis of the mid-upperface developmental field from the lipomatous hamartomas. Alternatively, a central rather than a peripheral mechanism of malformation might be considered, such as defective migration of neural crest cells.
We report on a girl aged 16 months with localized gigantism of the lower limb and widespread subcutaneous lipomas. This is the first case of macrodystrophia lipomatosa with lipomatous involvement in areas other than the involved limb.
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BACKGROUND: Lipoblastoma and lipoblastomatosis are rare pediatric adipose tumors that sometimes affect the neck or spinal cord. This case is the third report of lipoblastoma extending into the spinal canal, the first report of intradural tumor extension, and the first report of hemiparesis resulting from lipoblastoma compressing the spinal cord. METHODS: A 13-month-old boy was seen by a pediatrician for a firm, supraclavicular neck mass on the left side. After being evaluated by CT and MRI scanning, the tumor was partially resected. RESULTS: Postoperative microscopic examination of the tumor showed adipose cells with mature nuclei and well-formed fat vacuoles interspersed with fibrovascular septa, a finding consistent with maturing lipoblastoma. CONCLUSIONS: Although lipoblastomatous tumors are treated with complete surgical resection when possible, location of these tumors in the neck may dictate partial resection to avoid intraoperative injury to the spinal cord.
Benign and malignant tumors originating from mesenchymal cells destined to become lipoblasts and myoblasts affect the head and neck with contrasting frequencies. Lipomas and especially liposarcomas are unusual lesions above the clavicles but when found there behave in a biologic manner identical to that of their counter-parts at other anatomic sites. Myogenic tumors, on the other hand, have a predilection for the head and neck, and for rhabdomyosarcomas this predilection is accentuated in childhood. Combination therapy of rhabdomyosarcomas has obviated radical surgery as a method of treatment, and many sites in the head and neck have benefited prognostically by this treatment. Success, however, is dependent on clinical stage of disease, and rhabdomyosarcomas of the nasopharynx, paranasal sinuses, and middle ear remain more resistant to short-term cures because of the extent of the neoplasm. A review of the clinicopathologic aspects of granular-cell tumors and alveolar soft-part sarcomas is also presented because it has been suggested that these tumors have a myogenous origin.
We report a rare case of Erdheim-Chester disease (ECD) presenting as a progressive cerebellar syndrome and diabetes insipidus. On magnetic resonance imaging, a 7-mm extraaxial, enhancing mass was seen enveloping the right vertebral artery and was confirmed at autopsy to represent an adventitial xanthoma with lipid-laden, foamy histiocytes. The cerebellar syndrome most likely resulted from extensive histiocytic infiltration of the pons, particularly the basis pontis and middle cerebellar peduncles.
We report a 51-year-old alcoholic man with a 10-year history of cervical lipomas and progressive symmetrical sensory neuropathy, initially diagnosed with Madelung's disease, an idiopathic syndrome often attributed to chronic alcoholism. The eventual development of proximal weakness led to pathological and genetic testing which identified a A8344G mutation in the mitochondrial tRNA lysine gene, associated with MERRF (myoclonic epilepsy with ragged-red fibers). This case demonstrates how the varied terminology for this syndrome has resulted in a lack of consistent recognition and assessment for mitochondrial cytopathy.
BACKGROUND: Skin tags, or acrochordons, are benign, soft, fleshy tumors that are composed of hyperplastic epidermis covering a dermal connective tissue stalk. METHODS: Case report of a congenital perineal skin tag that presented as a perineal tumor during second-trimester sonographic scan at 23 weeks' gestation. Literature review of the medical literature using Pubmed(R) and the search terms acrochordon, fibroepithelial polyp (FEP), and skin tag. RESULTS: Routine midtrimester targeted organ scanning at 23 weeks' gestation revealed a 5-mm hypoechogenic elongated mass in the perineal area of the fetus. The lesion progressed to twice that size by 36 weeks. Detailed anatomy scan of the fetus was unremarkable, and amniocentesis demonstrated normal karyotype. The mother developed spontaneous labor at 38 weeks' gestation and delivered a phenotypically normal girl with a round smooth mass in the perineal area. The lesion was removed; pathologic examination revealed a lipomatous skin tag. Literature review showed skin tags associated with different medical conditions. CONCLUSION: To the best of our knowledge, no prenatally diagnosed cases of this lesion on the fetal perineum have been published. In the present case, this was an innocuous finding.