1/40. proteus syndrome: a case report.proteus syndrome is a rare genetic disorder, characterized by partial gigantism of the hands and/or feet, asymmetry of the limbs, plantar hyperplasia, multiple hamartomatous subcutaneous tumors, hyperostoses, and long bone overgrowth. A one day old Thai male infant is reported with macrosomia, hemihypertrophy of the left side of the face and left leg, large feet, macrodactyly of toes, plantar hyperplasia, large subcutaneous mass with a violet-red surface over the left side of the chest wall and a large port-wine stain involving the lateral aspect of the right chest wall. The clinical findings, diagnostic criteria, differential diagnosis, and management of the proteus syndrome are reviewed.- - - - - - - - - - ranking = 1keywords = hypertrophy (Clic here for more details about this article) |
2/40. scoliosis in proteus syndrome: case report.STUDY DESIGN: The case of patient with scoliosis based on a rare hamartomatous, proteus syndrome, is reported. OBJECTIVES: To present the characteristics of scoliosis associated with proteus syndrome, and to investigate the mechanisms that cause it. SUMMARY OF BACKGROUND DATA: proteus syndrome, a rare hamartomatous disorder first coined by Wiedemann, manifests many clinical morphologic abnormalities including scoliosis. The characteristics and cause of scoliosis in this syndrome are fully unknown. methods: A patient with proteus syndrome was followed from the age of 3 months to the age of 21 years. This patient received spinal corrective surgery for severe scoliosis. Detailed investigations of the scoliosis as well as the physical and imaging examinations were performed to characterize the scoliosis. RESULTS: Computed tomography showed exclusive asymmetric appearance of lumbar spine, hypertrophy of the only right facet joints, and pedicles at L1-L4, which accorded with the right-side hemihypertrophy of the patient's extremities. CONCLUSIONS: scoliosis with proteus syndrome seems to be based on hemihypertrophy, with no influence of mechanical stress.- - - - - - - - - - ranking = 3keywords = hypertrophy (Clic here for more details about this article) |
3/40. proteus syndrome.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.- - - - - - - - - - ranking = 2keywords = hypertrophy (Clic here for more details about this article) |
4/40. Genital tract tumors in proteus syndrome: report of a case of bilateral paraovarian endometrioid cystic tumors of borderline malignancy and review of the literature.proteus syndrome is a rare, sporadic disorder that causes postnatal overgrowth of multiple tissues in a mosaic pattern. Characteristic manifestations include: overgrowth and hypertrophy of limbs and digits, connective tissue nevus, epidermal nevus and hyperostoses. Various benign and malignant tumors and hamartomas may complicate the clinical course of patients with the syndrome. Commonly encountered tumors include hemangiomas, lymphangiomas and lipomas. Tumors of the genital tract occur less often. Bilateral ovarian cystadenomas are regarded as having diagnostic value in proteus syndrome when occurring within the first two decades of life. We describe a 3-year-old girl with proteus syndrome who developed bilateral paraovarian villoglandular endometrioid cystadenomatous tumors of borderline malignancy (low malignant potential) of the broad ligament. Desmoplastic tumor implants, presumably noninvasive, were present in biopsies from the pelvic floor, cul-de-sac and omentum. This is the first recognized example of a cystic borderline epithelial tumor of the female genital tract and the first paraovarian tumor reported in a patient with proteus syndrome. Previously reported tumors and cystic lesions involving the female genital tract and the male genital tract in patients with proteus syndrome are reviewed. We suspect that specific testicular and paratesticular tumors may prove to have the same diagnostic value in proteus syndrome as do bilateral cystic ovarian and paraovarian tumors.- - - - - - - - - - ranking = 1keywords = hypertrophy (Clic here for more details about this article) |
5/40. Craniofacial and dental manifestations of proteus syndrome: a case report.The proteus syndrome is a rare congenital hamartomatous condition that is characterized by a wide range of malformations, sometimes involving the face. Common manifestations include partial gigantism, congenital lipomas, and plantar hyperplasia. In this report we describe the craniofacial clinicopathological development in a girl with proteus syndrome from age 6 to 20 years. The patient had pronounced hemifacial hypertrophy, exostoses in the left parietal region, and enlargement of the inferior alveolar nerve and mandibular canal in the affected region. The dental development of the affected left mandible and maxilla was characterized by extremely premature development and eruption of the primary and permanent teeth and by pronounced idiopathic root resorptions. The multidisciplinary management of the patient and the treatment outcome is reported. A review of the Proteus patients in the literature who exhibited manifestation in the craniofacial region is presented.- - - - - - - - - - ranking = 1keywords = hypertrophy (Clic here for more details about this article) |
6/40. proteus syndrome.proteus syndrome is a rarely described dysplasia syndrome of the group of congenital hamartomas that arises from mosaic mutation. An extraordinary case history including imaging studies will be reported. This 17-year-old girl suffered from cachexia, lifelong chronic obstipation, different dysplasias, and lipomatous tumor-like lesions. The following findings were marked: macrodactyly, nevi, hemihypertrophy, aggressive lipomatosis, hemangiomas of the spleen, and skull and cerebral malformations. Additionally, an intestinal affection with fatty wall thickening was detected. In contrast to reports in the literature describing a reduced lifespan with a mean of few years, our patient is still alive. The treatment should take a palliative symptomatic approach considering the clinical situation.- - - - - - - - - - ranking = 1keywords = hypertrophy (Clic here for more details about this article) |
7/40. proteus syndrome: a natural clinical course of proteus syndrome.A 16-year-old Korean male patient presented with macrodactyly, hemihypertrophy of the face and extremities, plantar cerebriform hyperplasia, a subcutaneous mass of the left chest, macrocephaly and verrucous epidermal nevi. These findings are consistent with proteus syndrome. The clinical features, etiology, management, natural course and differential diagnosis of this case are discussed.- - - - - - - - - - ranking = 1keywords = hypertrophy (Clic here for more details about this article) |
8/40. proteus syndrome of the hand.proteus syndrome exhibits an expanded phenotype. We report a case with restricted macrodactyly and cerebriform hypertrophy of one palm. The differential diagnosis with macrodactyly and other hamartomatous overgrowth syndromes is discussed.- - - - - - - - - - ranking = 1keywords = hypertrophy (Clic here for more details about this article) |
9/40. Principles for the surgical management of patients with proteus syndrome and patients with overgrowth not meeting Proteus criteria.BACKGROUND: proteus syndrome is a rare, sporadic disorder consisting of disproportionate overgrowth of multiple tissues, vascular malformations, and connective tissue or epidermal nevi. patients with proteus syndrome present with diverse and variable phenotypes because of the syndrome's mosaic pattern of distribution. methods: Eighty patients with proteus syndrome, satisfying published diagnostic criteria, and 51 patients with overgrowth not meeting Proteus criteria were identified from the literature. Three additional patients, one patient with proteus syndrome and 2 patients with overgrowth, were treated at the author's institutions and are discussed in detail. All nonorthopedic and noncutaneous surgical interventions were reviewed. RESULTS: Fourteen genitourinary, 9 gastrointestinal, and 5 otolaryngologic operations were performed on patients with proteus syndrome. Six genitourinary, 5 gastrointestinal, and 2 otolaryngologic operations were performed on patients with overgrowth not meeting Proteus criteria. Eight patients with proteus syndrome and 4 patients with overgrowth experienced thoracic manifestations, generally diffuse cystic pulmonary lesions, but only 1 of 12 underwent surgical treatment. CONCLUSIONS: patients with visceral manifestations of either proteus syndrome or overgrowth not meeting Proteus criteria should be treated in a similar manner. Lesions involving the ovaries and testes, because of the high incidence of neoplasm, should be managed aggressively. Gastrointestinal and renal lesions may be managed conservatively with frequent follow-up to minimize abdominal explorations. All patients undergoing surgery should have a thorough preoperative assessment of their airway and pulmonary reserve because of the relatively high frequency of tonsillar hypertrophy and pulmonary cystic involvement.- - - - - - - - - - ranking = 1keywords = hypertrophy (Clic here for more details about this article) |
10/40. proteus syndrome: a case with clonal chromosome aberration.proteus syndrome is a disorder characterized by overgrowth of multiple tissues, connective tissue nevi, epidermal nevi and hyperostoses with asymmetric involvement. The clinical expression of the disorder is extremely variable. Molecular pathogenesis of the syndrome is unknown but it is hypothesized that it resulted from a somatic alteration of a gene leading to mosaic effects that would be lethal if the mutation was carried in nonmosaic fashion, and this may explain the variability among patients. We report a new case who presented at birth with asymmetric hypertrophy of the bones and soft tissues of fingers and a tumor of the chest. cytogenetic analysis of the excised tumor revealed clonal chromosome aberration: mos46, XY, add(9)(p13) [5]/46,XY[30]. During follow up tumors of the rectum and urinary bladder were diagnosed.- - - - - - - - - - ranking = 1keywords = hypertrophy (Clic here for more details about this article) |
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