1/10. Elattoproteus syndrome: delineation of an inverse form of proteus syndrome.A 7-year-old boy had partial lipohypoplasia and patchy dermal hypoplasia involving large areas of his body. These areas of deficient growth were similar to those described in many cases of proteus syndrome. Paradoxically, however, he had only few and rather mild lesions of disproportionate overgrowth. This unusual case is taken as a clue to postulate the Elattoproteus syndrome, an inverse form of proteus syndrome. The paradoxical coexistence of hyperplastic and hypoplastic lesions may reflect a twin spot phenomenon. The patient would carry at the Proteus locus one allele giving rise to overgrowth of tissues (Pleioproteus allele--from Greek pleion, meaning plus), whereas the other allele would cause deficient growth of tissues (Elattoproteus allele--from Greek elatton, meaning minus). At an early stage of embryogenesis, somatic recombination would give rise to two different populations of cells homozygous for either allele. From a heuristic point of view, one may postulate the existence of the Elattoproteus syndrome, a purely inverse form of proteus syndrome that would develop in the absence of the Pleioproteus allele.- - - - - - - - - - ranking = 1keywords = proteus syndrome, proteus (Clic here for more details about this article) |
2/10. 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 = 0.62384600977183keywords = proteus syndrome, proteus (Clic here for more details about this article) |
3/10. proteus syndrome associated with liver involvement: case report.We report a patient with proteus syndrome who has epidermal nevus, right-sided asymmetric growth of extremities, pelvis, vertebrae and hemimegalencephaly. This patient also had enlargement of the liver which is not reported before in the proteus syndrome.- - - - - - - - - - ranking = 0.31192300488592keywords = proteus syndrome, proteus (Clic here for more details about this article) |
4/10. Musculoskeletal manifestations of proteus syndrome: report of two cases with literature review.proteus syndrome is a recently described hamartomatous condition characterized by macrodactyly, hemihypertrophy, subcutaneous (s.c.) tumors, epidermal nevi, and skull anomalies. Two new cases are described to illustrate the diagnostic features and the orthopedic problems associated with this rare syndrome. review of available literature shows that 61 patients with proteus syndrome commonly develop macrodactyly, limb overgrowth, spinal deformity, hip dysplasia, genu valgum, exostoses, joint contractures, and hindfoot deformities.- - - - - - - - - - ranking = 0.15596150244296keywords = proteus syndrome, proteus (Clic here for more details about this article) |
5/10. 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 = 0.62384600977183keywords = proteus syndrome, proteus (Clic here for more details about this article) |
6/10. Unilateral proteus syndrome.proteus syndrome is a complex developmental abnormality. It is characterized by both hypertrophic and hypoplastic changes. Deformities have been occasionally found to be localized in one half of the body in head or digit but presence of all signs in one half of the body in a wide spread manner is not reported in the literature. We report the case for its unusual presentation of unilateral localization of signs.- - - - - - - - - - ranking = 0.62384600977183keywords = proteus syndrome, proteus (Clic here for more details about this article) |
7/10. proteus syndrome with multiple genitourinary abnormalities.proteus syndrome is a rare hamartomatous disorder comprising a broad spectrum of congenital malformations and overgrowth of multiple tissues. Some rare urogenital malformations have been reported before. This case is unique for the presence of multiple genitourinary anomalies including retroperitoneal cystic mass, intra-abdominal testicle with hematoma and ureterovesical stricture apart from common clinic findings of proteus syndrome.- - - - - - - - - - ranking = 0.15596150244296keywords = proteus syndrome, proteus (Clic here for more details about this article) |
8/10. The radiological features of hemimegalencephaly including three cases associated with proteus syndrome.We report the radiological appearances of 5 children with hemimegalencephaly. There are few reports of this rare condition in the radiological literature. Two of the children have hemimegalencephaly as an isolated finding while the other three have proteus syndrome. Four children have seizures which commenced within the first 6 months of life and two of these subsequently required hemispherectomy. In addition to the typical radiological features of hemimegalencephaly there was a high incidence of other brain anomalies. These include hypoplasia of the corpus callosum and crus cerebri, grey and white matter calcification and cortical migration/organisational disorders.- - - - - - - - - - ranking = 0.62384600977183keywords = proteus syndrome, proteus (Clic here for more details about this article) |
9/10. Hemifacial hyperplasia with meningeal involvement: a variant of proteus syndrome?We report on a sporadic case of hemifacial hamartomatous hyperplasia. The patient is male, and has sebaceous nevus-like skin change, subcutaneous lipomatous mass, cranial bone hyperplasia, and bony change of meninges. His lesion involves the anterior half of the face and cranial base, and, medially, is delimited by the midline. No case has been found identical to this in the literature, particularly with respect to the unusual meningeal lesion. However, without this meningeal lesion the rest of the manifestations are not uncommon in proteus syndrome. Also, this case may be an indication of somatic mosaicism, lethal in its nonmosaic state. Thus, this case may be thought of as a variant of proteus syndrome.- - - - - - - - - - ranking = 0.62384600977183keywords = proteus syndrome, proteus (Clic here for more details about this article) |
10/10. Pediatric peripheral neuropathy in proteus syndrome.proteus syndrome is a rare congenital disorder comprised of subcutaneous and internal hamartomas, pigmented skin nevi, skull exostoses, hemihypertrophy, and macrodactyly of the hands and feet. A 5-year-old girl diagnosed with proteus syndrome presented with distal median compression neuropathy with the primary complaint of severe pain involving the left hand. Surgical exploration of the hand revealed a lipofibromatous hamartoma of the median nerve. The transverse carpal ligament was released and epineurectomy of the median nerve was performed. The patient remains symptom free at the 9-month follow-up. This report is the first description of a hamartoma directly involving a peripheral nerve in proteus syndrome. decompression of the nerve with the removal of the fibrofatty neural sheath resulted in the resolution of the symptoms in this patient. The surgeon should consider this approach as a potential first line of treatment before a more radical resection of the nerve is contemplated.- - - - - - - - - - ranking = 0.62384600977183keywords = proteus syndrome, proteus (Clic here for more details about this article) |
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