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At least 19 recordsLinked to original sources
PubMedDate not supplied

[Proteiform syndrome (Proteus syndrome). Skin manifestations in a recently observed case].

The case of a 4-year-old female affected by partial gigantism of the feet, syndactyly and polydactyly, partial right hemihypertrophy of buttock and lower limb, warty hyperpigmented nevus and vulvar lipoma is described. The Authors discuss about the Proteus syndrome, pointing out its rarity, the polymorphism and the problems of differential diagnosis with the Klippel-Trenaunay-Weber syndrome and with other congenital hamartomatous disorders.

Abnormalities, Multiple↗
PubMed2004

Mutation analysis of the tumor suppressor PTEN and the glypican 3 (GPC3) gene in patients diagnosed with Proteus syndrome.

Proteus syndrome is a complex hamartomatous disorder characterized by asymmetrical gigantism, epidermal nevi, vascular malformations, hamartomas, lipomas, and hyperostosis. Since the syndrome was first described, many hypotheses have been proposed to explain its occurrence. The most plausible is Happle's somatic mosaic hypothesis, but no somatic mutations in candidate genes have been reported to be clearly involved in Proteus syndrome. However, germ-line PTEN mutations have been reported in patients with Proteus and in "Proteus-like disorders." Other studies of patients with Proteus syndrome have not supported these findings. In this study, affected and unaffected tissue from six patients diagnosed with Proteus syndrome were screened by direct sequencing of genomic DNA to determine if there might be an association between germ-line or somatic mutations in PTEN or GPC3 and the development of Proteus syndrome. No intra-exonic mutations were identified, indicating that neither PTEN nor GPC3 are likely to have major roles in the etiology of Proteus syndrome in our series of patients.

DNA↗
PubMed2002

Precocious puberty in a female with Proteus Syndrome.

Proteus syndrome is a complex disorder comprising malformations and overgrowth of multiple tissues and characterized by its polymorphism and mosaicism. The syndrome is rare and sporadic. Oliveira M da C et al reported the first case of Proteus syndrome associated with precocious puberty in a boy. We are reporting a case of a 7-month old girl with Proteus syndrome who developed a juvenile granulosa cell tumor in one ovary causing precocious puberty. At our knowledge this is the first case of Proteus syndrome with precocious puberty in a female.

Female↗
PubMed1994

Growth hormone (GH), insulin-like growth factors (IGFs), and IGF-binding protein-3 (IGFBP-3) in a child with Proteus syndrome.

Proteus syndrome is a congenital hamartomatous disorder characterized by partial overgrowth involving all germ layers. A somatic mutation model has been proposed since familial cases are extremely rare. We report on a 3-year-old girl with typical manifestations of Proteus syndrome, including local, asymmetric hypertrophy of various parts of the body. Total body length was reduced. Serum levels of IGF-I and especially IGF-II and their major growth hormone dependent binding protein (IGFBP-3) were significantly reduced, although growth hormone secretion after a pharmacological stimulus was normal. In vitro studies of fibroblasts derived from hypertrophied tissue showed normal IGF-I production and somewhat reduced IGF-II and IGFBP-3 production as compared to normal human skin fibroblasts. Affinity cross-linking experiments showed that fibroblasts of the affect tissue in Proteus syndrome produced an unusual pattern of IGF bindings proteins containing large amounts of an IGFBP with high affinity to IGF-II. The data suggest that IGF production is generally disturbed in Proteus syndrome with imbalanced levels of specific IGFBP in affected tissue.

Adult↗
PubMed1998

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.

Child, Preschool↗
PubMedDate not supplied

Radiologic manifestations of Proteus syndrome.

Proteus syndrome is a sporadic disorder named for its highly variable manifestations. The disease causes tissue overgrowth in a mosaic pattern and may affect tissues derived from any germinal layer. The disease process is not usually apparent at birth but develops rapidly in childhood. Common manifestations include macrodactyly, vertebral abnormalities, asymmetric limb overgrowth and length discrepancy, hyperostosis, abnormal and asymmetric fat distribution, asymmetric muscle development, connective-tissue nevi, and vascular malformations. The features of Proteus syndrome indicate that the condition may be caused by a somatic alteration in a gene, but no specific genetic mutation has yet been identified. Therefore, the diagnosis and management of the disease depend heavily on clinical evaluation and imaging. Although the manifestations of Proteus syndrome are highly variable, accurate diagnosis is possible if standard diagnostic criteria are followed and if disease features are assessed in comparison with those found in similar syndromes.

Adipose Tissue↗
PubMedDate not supplied

Pathology of lipomatous lesions in Proteus syndrome.

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.

Adult↗
PubMed1998

Prenatal ultrasonographic findings in Proteus syndrome.

Proteus syndrome, a disorder which consists of skeletal, hamartomatous and other mesodermal malformations proves to be tremendously variable. Although most of the patients show deformities at birth, the diagnosis is usually made later in life as the phenotype develops over time. We report on the case of a fetus presenting in utero, with a cystic abdominal mass and malposition of the fingers, which was found to have additional features of Proteus syndrome after termination of pregnancy. This case demonstrates that severe cases of Proteus syndrome can be detected prenatally.

Abdominal Neoplasms↗
PubMed2004

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.

Anesthesia, General↗
PubMed2001

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.

Child, Preschool↗
PubMed2001

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.

Diagnosis, Differential↗
PubMed2005

Dentomaxillofacial imaging in Proteus syndrome.

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.

Alveolar Process↗
PubMed1992

Proteus syndrome.

Proteus syndrome is a rare congenital disorder that is characterized by a wide variety of deformities including macrodactyly. Skin and soft tissue lesions are common; they may increase in size as the child develops and may assume tremendous proportions. The syndrome is often mistaken for other more commonly recognized conditions such as neurofibromatosis. Unlike neurofibromatosis, the soft tissue masses in Proteus syndrome are not nerve tumors but, rather, are hamartomas composed primarily of lipomatous tissue. The hand surgeon should be aware of this condition when evaluating a child with macrodactyly.

Diagnosis, Differential↗
PubMed1996

Lymphangiolipoma of the thoracic spine in a pediatric patient with Proteus syndrome.

Proteus syndrome is a rare hamartomatous disorder involving macrodactyly, hemihypertrophy, and subcutaneous lymphangiomas; fewer than 25 cases have been reported worldwide. We report a case of a thoracic epidural lymphangiolipoma in a 5-year-old boy with Proteus syndrome. Computerized axial tomography (CT) of the thoracic spine revealed a left posterior mediastinal mass that extended into the spinal canal through adjacent neural foramina. No sign of spinal cord compression was observed despite the extensive volume of tumor within the spinal canal. Surgical debulking utilizing a T3-10 laminectomy resulted in gross total resection of the tumor. Microscopic examination of the surgical specimen revealed a lymphangiolipoma. No previous report of spinal cord involvement has been reported in this syndrome. A detailed discussion of the phenotypic features and probable mode of genetic transmission is included.

Child, Preschool↗
PubMed2002

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.

Child, Preschool↗
PubMed1994

Proteus syndrome.

Proteus syndrome is a rare hamartomatous syndrome with a variety of abnormalities. A 6-year-old Japanese boy without apparent abnormalities at birth developed by 1 year of age cerebriform skin tumors on the right sole, soft masses on the left sole, palms and fingers, brownish verrucous lesions and whorled brownish patches on the right side of the neck, chest, external genitals and extremities, hemihypertrophy of the right lower extremity, lordoscoliosis, protuberance of the skull, epileptic seizures, hydrocephalus and mental retardation. This patient appears to be the second Japanese case of Proteus syndrome.

Child↗
PubMed2005

Recalcitrant scoliosis in Proteus syndrome.

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.

Child↗
PubMed2004

"Craniofacial and dental manifestations of a case of Proteus syndrome".

Proteus syndrome, which is a reference to the ancient Greek god Proteus, the Polymorphous, was called to the attention of pediatricians. Recognition of this syndrome has been difficult because of the variability of the syndrome's manifestations and because of its rarity. We describe a rare case of Proteus syndrome and we discuss its differential diagnosis. Our case presents with hemi facial hypertrophy, scrotal tongue, enamel hyperplasia as well as differential in the size of the dentition on both sides of the arch.

Child↗