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Query: UMLS:C0700208 (scoliosis)
 8,574 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Proteus syndrome is an extremely rare, complex hamartomatous disorder with markedly variable clinical expression. We present a case of Proteus syndrome with multiple disfiguring soft tissue masses that were present since early childhood. The lesions involved predominantly the right side of the body and included scoliosis, macrodactyly, and limited hyperostosis in the right foot. There was no evidence of cranial or skin lesions. The patient underwent multiple resections of soft tissue masses, including an amputation of the right foot because of severe gait disturbance. All specimens exhibited lipomatous lesions that were probably hamartomatous rather than neoplastic. She carried a diagnosis of neurofibromatosis for more than a decade, but a re-evaluation of clinical features and pathological findings prompted the diagnosis of Proteus syndrome. We believe that a more informed evaluation of the pathology material may help to identify this rare entity.
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PMID:Pathology of lipomatous lesions in Proteus syndrome. 968 70

A case of Proteus syndrome is presented, in which severe hemihypertrophy of the left trunk and left lower extremity, scoliosis, endometriosis and huge bizarre-shaped body tumors were observed. Up to 22.6 kg of tumorous tissue was excised. This syndrome was first described in 1983. The name Proteus comes from a Greek mythical sea god who was able to change his body form freely. This syndrome has numerous features including hemihypertrophy, macrodactyly, various subcutaneous masses, scoliosis and other minor abnormalities. Although diagnostic criteria have been established for Proteus syndrome, which is very difficult to differentiate from other congenital hamartomatous syndromes, more case reports are needed to define such a rare disorder. Our patient is the 6th Japanese case in the English literature.
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PMID:Proteus syndrome. 1158 23

The medical care of patients affected by rare disorders depends heavily on experiences garnered from prior cases, including those patients evaluated by the treating physician and those published in the medical literature. The utility of published cases is wholly dependent upon accurate diagnosis of those patients. In our experience, the rate of misdiagnosis in Proteus syndrome (PS) is high. Diagnostic criteria have been published, but these criteria have not been applied consistently and were published after many case reports appeared in the literature. We reviewed 205 cases of individuals reported to have PS in the literature and three of us independently applied the diagnostic criteria to these case reports. Our initial diagnostic congruence was 97.1% (199/205); the discrepancies in six cases were easily resolved. Only 97 (47.3%) of reported cases met the diagnostic criteria for PS; 80 cases (39%) clearly did not meet the criteria; and although 28 cases (13.7%) had features suggestive of PS, there were insufficient clinical data to make a diagnosis. Reported cases that met the PS criteria had a higher incidence of premature death, and other complications (scoliosis, megaspondyly, central nervous system abnormalities, tumors, otolaryngologic complications, pulmonary cystic malformations, dental and ophthalmogic complications) compared to those in the non-Proteus group. The cases that met the criteria were more often male, which has implications for hypotheses regarding the etiology and pathophysiology of PS. We also studied the attributes that led authors to conclude the reported patients had PS when we concluded they did not. We found that two of the diagnostic criteria (disproportionate overgrowth and connective tissue nevi) were often misinterpreted. In PS, the abnormal growth is asymmetric, distorting, relentless, and occurred at a faster rate compared to the rest of the body. Furthermore, PS was associated with irregular and disorganized bone, including hyperostoses, hyperproliferation of osteoid with variable calcification, calcified connective tissue, and elongation of long bones with abnormal thinning. In contrast, non-Proteus cases displayed overgrowth that was asymmetric but grew at a rate similar to the growth found in unaffected areas of the body. Also, the overgrowth in non-Proteus cases was associated with normal or enlarged bones together with ballooning of the overlying soft tissues. Taken together, these data show that (1) PS diagnostic criteria sort individuals with asymmetric overgrowth into distinct groups; (2) individuals with PS were more likely to have serious complications; (3) PS affects more males than females; and 4) the published diagnostic criteria are useful for clinical care and research. This article contains supplementary material, which may be viewed at the American Journal of Medical Genetics website at http://www.interscience.wiley.com/jpages/0148-7299/suppmat/index.html.
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PMID:Reassessment of the Proteus syndrome literature: application of diagnostic criteria to published cases. 1537 14

Proteus syndrome is a rare condition that involves atypical growth of the bones, skin and head and a variety of other symptoms. Only a few authors have reported on the craniofacial manifestations so far. The authors present a case of a 7-year-old girl with Proteus syndrome in which the facial skeleton showed unilateral overgrowth. The analysis of the radiological evaluation revealed a bialveolar prognathism, a skeletal class III, a dolicocephalic growth pattern and a left convex face scoliosis. On the left side, the lesser wing of the sphenoid was elevated and the ethmoidal cell complex was hypertrophic. The left ramus and body of the mandible were enlarged. The asymmetric dental development with a precocious dental age on the affected side was the most striking feature on the panoramic view. Early diagnosis and therapy depend on clinical evaluation and imaging. Therefore, further evaluations on the craniofacial features of patients with Proteus syndrome are necessary in order to establish a list of characteristic symptoms.
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PMID:Dentomaxillofacial imaging in Proteus syndrome. 1596 2

Proteus syndrome is a rare congenital condition with various clinical features such as hemihypertrophy, macrodactyly, subcutaneous masses, brain-like hyperplasia of the soles and/or palms, epidermal naevi and scoliosis with other mesodermal malformations. Multifocal overgrowth can affect various tissues causing severe functional and cosmetic disability, but intellectual and language development are mostly normal. Orthopaedic problems include macrodactyly, hindfoot deformity, limb length inequality, genu valgum and scoliosis. Usually, scoliosis does not respond to bracing, and surgical intervention may be required. Despite surgical correction, instrumentation and fusion, progression of deformity can occur. The authors describe a case with a Th7-L2 scoliosis, which completely relapsed, 20 months after posterior instrumented fusion. Surgery should not be undertaken lightly, given the abnormal growth potency typical for Proteus syndrome.
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PMID:Recalcitrant scoliosis in Proteus syndrome. 1603 17

This 16-year-old boy with Proteus syndrome suffered acute spinal cord compression secondary to hemorrhage into an extradural paraspinal angiolipomatous hamartoma. A magnetic resonance (MR) imaging study performed 12 years earlier had revealed the presence of this tumor at the apex of a mild thoracic scoliosis, which had been stable during the intervening decade. Spinal cord neurological deficit in Proteus syndrome is rare. It can arise either from vertebral abnormalities and kyphoscoliotic deformities or from tumor encroachment. The authors describe the temporal evolution of scoliosis and acute spinal cord compression caused by a paraspinal angiolipomatous hamartoma over a period of 12 years. A review of the literature suggests that regular follow up, including serial MR imaging, is indicated in children with Proteus syndrome and scoliosis. Earlier resection of extradural tumor mass encroaching on the cord is warranted in the treatment of these children.
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PMID:Paraparesis caused by an angiolipomatous hamartoma in an adolescent with Proteus syndrome and scoliosis. 1623 85

A young lady was found to have hemihypertrophy, scoliosis, subcutaneous swellings, patchy dermal hypoplasia, plantar hyperplasia and macrodactyly. These suggested a diagnosis of Proteus syndrome. She was also having unilateral generalized hypertrichosis. The association of Proteus syndrome and unilateral generalized hypertrichosis has not been reported in the literature.
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PMID:Unilateral generalized hypertrichosis in proteus syndrome. 1765 84

We present a series of seven patients who were previously diagnosed with Proteus syndrome, but who do not meet published diagnostic criteria for this disorder and whose natural history is distinct from that of Proteus syndrome. This newly recognized phenotype comprises progressive, complex, and mixed truncal vascular malformations, dysregulated adipose tissue, varying degrees of scoliosis, and enlarged bony structures without progressive bony overgrowth. We have named this condition congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE syndrome) on a heuristic basis. In contrast to the bony distortion so characteristic of Proteus syndrome, distortion in CLOVE syndrome occurs only following major or radical surgery. Here, we contrast differences and similarities of CLOVE syndrome to Proteus syndrome.
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PMID:Newly delineated syndrome of congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE syndrome) in seven patients. 1796 21

A 15-year-old girl developed a progressive paraparesis over a period of six months, secondary to spinal cord compression by a lipomatous mass and anomalies of the vertebral column. Clinically, a right hemihyperplasia affecting the trunk and lower limb was evident, as well as a right convex lumbar scoliosis. CT and MRI demonstrated severe spinal cord compression resulting from intraspinal lipomatosis, overgrowth of right facet joints (T8 to L5), and kyphoscoliosis. Surgical decompression was undertaken. A lumbar scoliosis of 48 degrees was partially corrected by means of dual-rod instrumentation. The neurological deficit improved significantly, and ambulation was progressively restored. The patient carried the diagnosis of Proteus syndrome for several years, but reevaluation of clinical features prompted the diagnosis of Hemihyperplasia Multiple Lipomatosis syndrome (HHML). This rare sporadic disorder is often confused with Proteus syndrome. As in Proteus syndrome, spinal cord compression in patients with HHML can result from lipomatous infiltration and/or significant spinal abnormalities including kyphoscoliosis and overgrowth. HHML and Proteus syndrome are discussed and compared with special emphasis on spinal and orthopaedic pathologies.
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PMID:Hemihyperplasia-multiple lipomatosis syndrome (HHML): a challenge in spinal care. 1905 13

Proteus syndrome is a rare, sporadic, hamartomatous disorder manifesting with multifocal overgrowth of tissue. The features seem to develop most often during childhood. Vertebral overgrowth with severe spinal canal stenosis is unusual, although scoliosis with abnormal vertebral bodies is one of the typical features of Proteus syndrome. We report a case of Proteus syndrome with severe spinal canal stenosis, scoliosis, cervical kyphosis, and thoracic deformity with airway obstruction because of asymmetrical overgrowth of vertebrae and ribs associated with a tethered cord, lipomas, strawberry hemangioma, flat nasal bridge, and bilateral hypoplasty of the first metatarsal bones with hyperplasty of soft tissue.
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PMID:A case of Proteus syndrome with severe spinal canal stenosis, scoliosis, and thoracic deformity associated with tethered cord. 2222 75


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