1/23. The multifaceted challenges of proteus syndrome.proteus syndrome is a rare and sporadic disorder that causes postnatal overgrowth of multiple tissues in a mosaic pattern. The overgrowth can involve skin, subcutaneous tissue, connective tissue (including bone), the central nervous system, and viscera. Complications of proteus syndrome include, among others, progressive skeletal deformities, invasive lipomas, benign and malignant tumors, and deep venous thrombosis with pulmonary embolism. Care of patients with proteus syndrome presents significant challenges to both physicians and parents because of the various medical as well as psychosocial consequences of the disease. Herein, the case of a 5-year-old patient who manifested a number of these complications is presented. Current knowledge about the diagnosis, natural history, etiology, and management of the disorder is reviewed.- - - - - - - - - - ranking = 1keywords = connective (Clic here for more details about this article) |
2/23. Cerebriform fibrous proliferation vs. proteus syndrome.proteus syndrome is a rare, congenital hamartomatous syndrome that presents with a wide range of abnormalities. Regardless of different manifestations found in different patients, there exists three mandatory criteria for the diagnosis of this syndrome: a mosaic distribution of the lesions, a progressive course, and sporadic occurrence. When these criteria are met, the presence of additional connective tissue nevi, which are encountered mostly on the plantar surface of the feet, suffices for the diagnosis of proteus syndrome. The authors present a 48-year-old woman who had been evaluated for a lesion on the plantar aspect of her left foot that was diagnosed as keloid and was treated unsuccessfully. In the light of the literature and with the help of histopathological reevaluation, the authors thought this unique lesion may be a localized form of proteus syndrome.- - - - - - - - - - ranking = 1keywords = connective (Clic here for more details about this article) |
3/23. 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 = connective (Clic here for more details about this article) |
4/23. 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 = 1.0269870305468keywords = connective, neoplasm (Clic here for more details about this article) |
5/23. A muscular lesion suggestive of focal myositis in a child with proteus syndrome.proteus syndrome is a polymorphic hamartomatous disorder associated with a broad spectrum of rare congenital malformations. Many neoplasms have been linked to this condition, including lipomas, lymphangiomas, and hemangiomas. The authors describe a case of a congenital muscular lesion in a child with proteus syndrome. This mass was painless but was growing out of proportion to her leg musculature. A magnetic resonance imaging scan and incisional biopsy showed findings consistent with focal myositis. The clinical, radiographic, and histologic characteristics of this previously undescribed lesion are discussed, with a brief review of the literature.- - - - - - - - - - ranking = 0.026987030546815keywords = neoplasm (Clic here for more details about this article) |
6/23. 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 = 1.0050261750947keywords = connective, soft (Clic here for more details about this article) |
7/23. proteus syndrome: report of the first Japanese case with special reference to differentiation from klippel-trenaunay-weber syndrome.This is the first report of a Japanese girl with proteus syndrome. She presented with growth acceleration and precocious development of the left breast as well as macrodactyly, hemihypertrophy, a subcutaneous preaxillary mass, portwine stains, connective tissue nevi, and a depigmented macule. All these abnormalities were confined to the left side of her body. Although most of the manifestations fit those of proteus syndrome, the presence of the portwine stains and hemihypertrophy also suggested klippel-trenaunay-weber syndrome. The findings in our patient suggest that the most important characteristic distinguishing proteus syndrome from klippel-trenaunay-weber syndrome is the presence of functional abnormalities such as a growth spurt and precocious breast development. proteus syndrome may be genetically different from the klippel-trenaunay-weber syndrome.- - - - - - - - - - ranking = 1keywords = connective (Clic here for more details about this article) |
8/23. proteus syndrome.A 34-year-old male patient was referred with a recalcitrant leg ulcer overlying an extensive vascular malformation, which had led several times to septic soft tissue infections. During his infancy he had been diagnosed to have Klippel-Trenaunay syndrome. Clinical examination revealed asymmetric hypertrophy of the lower extremities, an extensive portwine stain on the more severely affected left limb as well as prominent venous varicosities of both legs. Hands and feet showed striking cerebriform palmoplantar hypertrophy, and macrodactily with syndactily of several fingers. All toes had been amputated in early childhood due to extreme overgrowth and currently the patient walked on his forefeet in a prominent pes equinus deformity. Further symptoms consisted in several lipomas at both arms, another portwine stain at the left hemithorax and a single cafe-au-lait spot at the left scapula. Angio-magnetic resonance imaging scans of both legs showed an extensive venous-lymphatic vascular malformation involving the whole subcutis and infiltrating the muscle. The chronic wound was interpreted as venous stasis ulceration. Local percutaneous sclerotherapy of the dilated veins underneath the ulcer was discussed, but considered to carry a relevant risk of skin necrosis with consecutive progression of the wound. A conventional split-skin graft led to complete wound healing. Since, the patient consequently wears custom-made compression stockings and remained free from recurrences. The syndromatic constellation of palmoplantar overgrowth, multiple lipomas, giant fingers and toes, limb overgrowth, venous-lymphatic malformation and a cafe-au-lait spot led to the diagnosis of proteus syndrome. The possible aetiology, clinical manifestations, differential diagnosis and management of this rare disorder are discussed.- - - - - - - - - - ranking = 0.0050261750946759keywords = soft (Clic here for more details about this article) |
9/23. proteus syndrome.proteus syndrome is a rare sporadic, hamartoneoplastic disorder of vascular, skeletal, and soft tissues that causes asymmetry of the skull, body, arms, and the legs. The name "Proteus" of the Greek god who had the ability to change his shape was coined to define the variety of deformities including partial gigantism of the hands or feet, asymmetry of the arms and legs, hypertrophy of long bones, plantar hyperplasia, haemangiomas, lipomas, varicosities, linear verrucous epidermal naevi, macrocephaly, and cranial hyperostoses. The basic defect seems to be the focal overgrowth of cellular elements in skin, bone, and other connective tissues. The variable features of the syndrome make differential diagnosis challenging for clinicians. The most important features are the hamartomatous disorders. The long-term prognosis is still not clear. As it is a hamartoneoplastic and incompletely delineated syndrome, the patients must be followed up because of the possible risk of neoplasms.- - - - - - - - - - ranking = 1.0320132056415keywords = connective, neoplasm, soft (Clic here for more details about this article) |
10/23. anesthesia for proteus syndrome.proteus syndrome is a complex disorder comprising malformations and overgrowth of multiple tissues. The disorder is highly variable affecting tissues in a mosaic pattern. A 2-year-old boy with proteus syndrome, with epidermal verrucal naevus, hyperplastic lesions of connective tissue, hyperostosis, overgrowth of tubular bones, bilateral inguinal hernia, and juvenile intestinal polyposis was scheduled for vertebral magnetic resonance imaging (MRI) for further evaluation of malignancies. In addition to the pathological findings of this syndrome, potential complications such as difficult intubation, pulmonary hypertension, and pulmonary thromboembolism necessitate a careful preoperative and anesthetic preparation. MRI was performed under general anesthesia. There were no anesthetic complications. There are few previous reports on anesthesia in a patient with proteus syndrome.- - - - - - - - - - ranking = 1keywords = connective (Clic here for more details about this article) |
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