proteus syndrome radiology

06/12/2020 Uncategorized

(c) Axial CT image at the level of the upper thorax shows asymmetric overgrowth of fat in the anterior thoracic wall, a focal fatty lesion in the left axilla (arrow), deviation of the mediastinum to the right, and asymmetry of the thorax, with the left hemithorax larger than the right. Such a mutation could affect local production or regulation of tissue growth factor receptors (,1,,12). Axial MR images obtained with a short inversion time inversion recovery sequence in a patient aged 5 years at the levels of the pelvis (a) and thighs (b) show asymmetric fatty infiltration and numerous abnormal vascular structures in the muscles (arrows), more prominent on the left side than on the right.Download as PowerPointOpen in Image Rapid progression of cervical spine overgrowth. Axial T1-weighted MR images of the pelvis and upper thighs (a) and the upper to middle thighs (b) in a patient aged 20 years show asymmetric muscle development in the thighs, asymmetric focal increase of fatty tissue in the right buttock (∗ in a), diffuse increase of fatty tissue in the left thigh, and focal accumulation of fat anterior to the left distal femur (arrow in b).Download as PowerPointOpen in Image Rapid progression of macrodactyly and cerebriform connective-tissue nevus. Visceral anomalies in Proteus syndrome are less common than musculoskeletal and soft-tissue abnormalities. Enter your email address below and we will send you your username, If the address matches an existing account you will receive an email with instructions to retrieve your username. These signs are absent in Proteus syndrome (,12,,20). 190, No. Visceral anomalies such as splenomegaly, asymmetric megalencephaly, white-matter abnormalities, and nephromegaly, as well as masses other than fatty, muscular, and vascular malformations, are less common. Figure 2b. Lipomas, splenomegaly, cystic lung changes, and pulmonary embolism. 1, The British Journal of Radiology, Vol. Fatty infiltration of muscles, and vascular malformations. Proteus Syndrome is a condition which involves atypical growth of the bones, skin and head, and can lead to a variety of other symptoms.The condition is caused by a genetic mutation in AKT1, an … Anteroposterior radiographs of the pelvis and thighs (a) and the legs and feet (b) of a 12-year-old male patient show asymmetric overgrowth of bones and soft tissues in the right side of the pelvis and the right lower extremity, limb length discrepancy, and bowing in the left femur and right fibula. However, the fact that there are few reports of fractures in patients with Proteus syndrome suggests that osseous strength overall is unaffected (,13). Anteroposterior radiographs of the pelvis and thighs (a) and the legs and feet (b) of a 12-year-old male patient show asymmetric overgrowth of bones and soft tissues in the right side of the pelvis and the right lower extremity, limb length discrepancy, and bowing in the left femur and right fibula.Download as PowerPointOpen in Image 33, No. Fatty infiltration of muscles, and vascular malformations. It may affect tissues derived from any of the three germinal layers (1,2). Figure 25. Axial T2-weighted MR image of the head of a patient aged 7 years shows broad gyration and diffuse enlargement of the right cerebral hemisphere, closed-lip schizencephaly beginning at the right lateral sulcus (arrows), and prominence of the Virchow-Robin spaces. Anteroposterior (a) and left lateral (b) radiographs of the cervical spine in a patient aged 16 years show asymmetric overgrowth of multiple vertebral bodies with resultant dextroscoliosis, hyperlordosis, and abnormal anteroposterior alignment of the upper cervical vertebral bodies, which led to a marked reduction in the patient’s mobility. 70, No. Figure 26f. … Skull abnormalities. These overgrowths usually … Progressive skeletal changes. Bannayan-Riley-Ruvalcaba syndrome is also inherited in an autosomal dominant pattern and is associated with mutations in the PTEN gene on chromosome 10q. (f) Contrast-enhanced CT image of the chest obtained 4 years later shows filling defects in the lower lobes of the right and left lungs because of emboli in the pulmonary arteries, as well as a small left pleural effusion. The purpose of this article is to familiarize the reader with the radiographic manifestations of Proteus syndrome, including skeletal, soft-tissue, and visceral anomalies, as well as tumors, in a cohort of patients in whom this diagnosis was based on standardized criteria. (b) Right lateral radiograph obtained at age 8½ years shows progressive enlargement of the vertebral bodies with resultant fixed hyperextension of the upper cervical spine and hyperflexion of the lower cervical spine, which led to a reduction in the patient’s mobility. Photographs of the neck (a) and right foot (b) of an 11-year-old patient show severe deformity of the chest and neck, caused by vertebral anomalies; disproportionate growth of the forefoot (the fifth toe has been amputated because of macrodactyly; see ,,,Fig 4); and plantar cerebriform connective-tissue nevus. (e) Axial CT image of the abdomen shows increased retroperitoneal fat (arrows); asymmetric development of the paraspinal muscles (arrowheads), with the left side greater than the right; and marked splenomegaly (∗). Lateral radiograph of the right foot in a patient aged 17 years shows marked enlargement of the distal tibia and fibula; deformity and abnormal flexion of the calcaneus in the dorsal direction (black arrowhead); enlargement of the distal portion of the proximal phalanx, proximal portion of the distal phalanx, and the sesamoid bones of the first ray (arrows); coarse trabeculation of the enlarged bones; and lobulation of the plantar skin (white arrowheads), a finding that indicates cerebriform connective-tissue nevus.Download as PowerPointOpen in Image 1885;36:494-8. In Parkes Weber syndrome (a variant of Klippel-Trénaunay syndrome), limb hypertrophy is associated with arteriovenous malformations (,19). Proteus syndrome is characterized by progressive mosaic overgrowth of skin, bones, muscles, fatty tissues, and blood and lymphatic vessels, as well as by visceromegaly, lung cysts, and predisposition to pulmonary embolism. (c) Axial MR image obtained with a short inversion time inversion recovery, or STIR, sequence at a level similar to that in b, shows vascular malformations within the fatty tissue in the retroperitoneum, right psoas muscle, and abdominal wall.Download as PowerPointOpen in Image Proteus syndrome is a rare condition with an … Asymmetric overgrowth. Asymmetric overgrowth. We saw lipomas or focal fat overgrowth (,Figs 19,,,,,,,–,,,,23, ,,,,,,,26) in seven of our patients, adipose tissue infiltration of muscle in five patients, and adipose tissue invasion of the spinal canal (,,,Figs 22, ,,,,23) in two patients. Progressive skeletal changes. Affected persons have some cells with a normal copy of this regulatory gene and some cells with the abnormal gene (mosaic). 4, 13 June 2013 | Skeletal Radiology, Vol. Diffuse, abnormal, or asymmetric distribution of adipose tissue was seen in 13 (62%) of the 21 patients. Axial T1-weighted MR image at the level of the upper thighs in a patient aged 7 years shows asymmetric overgrowth of the right femur and the muscles and subcutaneous tissues of the right thigh. T1 - Proteus syndrome. Viewer. Abnormal vertebral bodies. (f) Contrast-enhanced CT image of the chest obtained 4 years later shows filling defects in the lower lobes of the right and left lungs because of emboli in the pulmonary arteries, as well as a small left pleural effusion.Download as PowerPointOpen in Image Elsayes KM, Menias CO, Dillman JR et-al. Figure 22b. Vertebral anomalies and connective-tissue nevi are characteristic features of Proteus syndrome. Proteus syndrome is caused by a change (mutation) in the AKT1 gene. (b) Axial CT image obtained at a level below a, in the neck, shows multiple bilateral asymmetric masses with the attenuation of fat (arrows), more prominent in the left side than the right, and causing deviation of the midline structures in the neck to the right. Viewer. Venous malformations. Proteus syndrome is a rare congenital, multisystemic, hamartomatous condition characterized by asymmetrical overgrowth of almost any part of the body and a broad spectrum of manifestations. (a) Anteroposterior radiograph of the right foot (same patient as in ,,,Fig 1), obtained at age 5 years, shows minimal overgrowth of bone. 5, American Journal of Medical Genetics Part A, Vol. Proteus syndrome: a newly recog- nized hamartomatous syndrome with significant craniofacial dysmorphology. Axial MR images obtained with a short inversion time inversion recovery sequence in a patient aged 5 years at the levels of the pelvis (a) and thighs (b) show asymmetric fatty infiltration and numerous abnormal vascular structures in the muscles (arrows), more prominent on the left side than on the right. Diagnostic Criteria for Proteus Syndrome, Note.—Diagnosis is made in the presence of the general (mandatory) criteria—mosaic distribution of lesions and progressive course and sporadic occurrence—plus either the single sign from category A, two signs from category B, or three signs from category C. (Adapted, with permission, from reference 6. 7, 23 October 2013 | Clinical Genetics, Vol. Figure 19. Sagittal T1-weighted MR image of the right foot in a patient aged 7 years shows disproportionate and dysmorphic enlargement of the calcaneus (∗) and an irregular overgrowth of the plantar soft tissues that represents cerebriform connective-tissue nevus (arrowheads).Download as PowerPointOpen in Image ), TABLE 2. (a, b) Anteroposterior radiographs of the left foot in a patient at ages 2 years (a) and 5 years (b) show progressive and disproportionate growth of the metatarsal and phalangeal bones of the toes, macrodactyly and clinodactyly, and a cerebriform connective-tissue nevus (arrowheads in b). 1067, 23 August 2016 | American Journal of Medical Genetics Part A, Vol. Viewer. Abnormal vertebral bodies. Figure 23a. Proteus syndrome is a rare congenital disorder that produces multifocal overgrowth of tissue. Neurofibromatosis type 1, a disease caused by mutations in the NF1 gene on chromosome 17 (,20), is inherited in an autosomal dominant pattern and is characterized by Lisch nodules, axillary freckles, multiple café-au-lait spots, and multiple neurofibromas. Anteroposterior (a) and left lateral (b) radiographs of the cervical spine in a patient aged 16 years show asymmetric overgrowth of multiple vertebral bodies with resultant dextroscoliosis, hyperlordosis, and abnormal anteroposterior alignment of the upper cervical vertebral bodies, which led to a marked reduction in the patient’s mobility. 1. One hundred seventy-four studies obtained between January 15, 1989 and August 18, 2000 were reviewed. This disorder was delineated by Cohen and Hayden in 1979 (,4) and was further defined by Wiedemann (,5), who proposed the term Proteus syndrome to highlight the tremendous morphologic variability of the disease entity. (b) Axial CT image obtained at a level below a, in the neck, shows multiple bilateral asymmetric masses with the attenuation of fat (arrows), more prominent in the left side than the right, and causing deviation of the midline structures in the neck to the right. The symptoms and features of Proteus syndrome aren't present at birth. Figure 15b. (c) Axial CT image at the level of the upper thorax shows asymmetric overgrowth of fat in the anterior thoracic wall, a focal fatty lesion in the left axilla (arrow), deviation of the mediastinum to the right, and asymmetry of the thorax, with the left hemithorax larger than the right. Bone malformations in Proteus syndrome: an analysis of bone structural changes and their evolution during growth. Enchondromas have not been reported in Proteus syndrome. (a, b) Axial nonenhanced CT images of the thorax (a) and abdomen (b) in a patient aged 14 years show thoracic deformity, including a large asymmetric area with the attenuation of fat along the posterior chest wall and infiltrating the paraspinal muscles bilaterally (arrows), more noticeable in the left side than in the right, which causes elevation of the left scapula away from the posterior chest wall (arrowhead in a); less prominent fatty infiltration along the left lateral chest wall and in the muscles of the anterior chest wall, as well as the posterior, lateral, and anterior abdominal wall and the left anterior rectus abdominis muscle; and enlargement of the right psoas muscle with fatty infiltration that surrounds multiple serpentine blood vessels. We saw muscular calcifications in three (14%) of our 21 patients. (a) Axial T1-weighted MR image obtained in a patient aged 11 years at the level of the mandible shows asymmetric fatty masses (∗) anterior to, and under, the sternocleidomastoid muscles, a finding more prominent in the left side than the right. The study would not have been possible without the support of Proteus syndrome foundations in the United States and the United Kingdom ( www.proteus-syndrome.org and www.proteus-syndrome.org.uk, respectively). Axial MR images obtained with a short inversion time inversion recovery sequence in a patient aged 5 years at the levels of the pelvis (a) and thighs (b) show asymmetric fatty infiltration and numerous abnormal vascular structures in the muscles (arrows), more prominent on the left side than on the right. Klippel-Trénaunay syndrome less frequently occurs bilaterally, and, on rare occasions, may affect an upper extremity. 155, No. 2014, Journal of the Korean Society of Radiology, Vol. Figure 13a. T2 - Craniofacial and cerebral MRI. Note also the rib asymmetry and thoracic scoliosis in a.Download as PowerPointOpen in Image Figure 26e. While any part of the body can potentially be affected by the condition, the most common parts are bone, fat, and connective tissue. 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. Viewer. Abnormal vertebral bodies. (a) Anteroposterior radiograph of the right foot (same patient as in ,,,Fig 1), obtained at age 5 years, shows minimal overgrowth of bone. (b) Axial MR image obtained with a fluid-attenuated inversion recovery, or FLAIR, sequence in the same patient at age 8 years shows expansile calvarial lesions with the signal intensity of fat in the frontal and right parietal bones (arrows); a lesion in the right parieto-occipital junction, probably a cavernous vascular malformation (arrowhead); and bilateral abnormalities in periventricular and deep white-matter signal intensities.Download as PowerPointOpen in Image Abnormal vertebral bodies. The calcaneus was unusually large and distorted (,Fig 10) in five (24%) of the 21 patients, in whom it caused gait disturbances. The appropriate use of imaging modalities and published diagnostic criteria will greatly increase the accuracy of diagnosis. Proteus Syndrome Background Proteus syndrome is an extremely rare overgrowth syndrome thought to affect fewer than 500 individuals in the developed world. Now that genetic testing for the AKT1 mutation is available, it is important to get tested. The study was carried out by Turner et al. 42, No. The disease commonly progresses rapidly in childhood but may slow or stabilize during early adolescence. (e) Axial CT image of the abdomen shows increased retroperitoneal fat (arrows); asymmetric development of the paraspinal muscles (arrowheads), with the left side greater than the right; and marked splenomegaly (∗). Check for errors and try again. Figure 12a. Lipomas, splenomegaly, cystic lung changes, and pulmonary embolism. Anteroposterior (a) and left lateral (b) radiographs of the lumbar spine in a patient aged 6 years show asymmetric overgrowth of multiple vertebral bodies and increased vertebral height, particularly of L3 and L4; lumbarization of S1; and posterior scalloping of all of the lumbar vertebral bodies, as well as S1.Download as PowerPointOpen in Image Axial T1-weighted MR image of the hands of a 28-year-old female patient shows marked asymmetry due to increased fatty components in the soft tissues of the right hand. (a) Axial T1-weighted MR image obtained in a patient aged 11 years at the level of the mandible shows asymmetric fatty masses (∗) anterior to, and under, the sternocleidomastoid muscles, a finding more prominent in the left side than the right. Premature death is not uncommon (,7–,9). Proteus syndrome: case report Síndrome de Proteus: relato de caso Letícia Silva Sene*, Polyane de Oliveira Sales, Rubens Chojniak Department of Imaging, Hospital A. C. Camargo, São Paulo, SP, Brazil … Macrodistrofia lipomatosa del pie asociada a lipomatosis del nervio plantar, Vascular Malformation and Hemangiomatosis Syndromes: Spectrum of Imaging Manifestations, A Case of Proteus Syndrome with Lateral Embryonal Vein and Frontal Intraosseous Lipoma, Dentomaxillofacial imaging in Proteus syndrome, Imagerie des anomalies vasculaires des tissus mous : diagnostic et traitement. Viewer. 2. Reports of Societies. Coronal and axial T1-weighted MR images of the pelvis and thighs (a) and the middle thighs (b) in a patient aged 11 years show muscle and fat overgrowth in the left thigh and mild fatty infiltration (arrow in b) in the muscles of the left thigh. Cystic lung changes and pulmonary emboli (,,,,,,,Fig 26) also have been reported to occur in association with Proteus syndrome (,5,,7,–,9). Proteus syndrome is a complex disorder consisting variably of disproportionate, asymmetric overgrowth of body parts, particularly involving the skeleton; cer- Macrodactyly (,,,Figs 2,–,,,4) is one of the most striking manifestations of Proteus syndrome. The clinical and radiographic manifestations of Proteus syndrome are … 3, 6 April 2018 | Postgraduate Medical Journal, Vol. Viewer. Axial (a) and sagittal (b) T1-weighted MR images of the thoracic spine in a 6½-year-old female patient show a large lipomatous mass, posterior to the paraspinal muscle fascia, that extends from T6 to L5 (∗), as well as asymmetric fatty infiltration and atrophy of the paraspinal muscles, right more than left (arrowheads in a), and increased fat in the spinal canal (arrow). The highly variable clinical manifestations frequently lead to initial misdiagnosis 3. Lipomas, splenomegaly, cystic lung changes, and pulmonary embolism. Progressive skeletal changes. (e) Axial CT image of the abdomen shows increased retroperitoneal fat (arrows); asymmetric development of the paraspinal muscles (arrowheads), with the left side greater than the right; and marked splenomegaly (∗). Some other patients with PTEN mutations have atypical (non–Bannayan-Riley-Ruvalcaba syndrome) overgrowth phenotypes. (c, d) Posteroanterior radiographs of the left hand in another patient at ages 4 years (c) and 16 years (d) show asymmetric and irregular overgrowth of the phalanges, more marked and with accompanying ankylosis of the interphalangeal joints in d. Figure 18d. (b) Axial CT image obtained at a level below a, in the neck, shows multiple bilateral asymmetric masses with the attenuation of fat (arrows), more prominent in the left side than the right, and causing deviation of the midline structures in the neck to the right. Figure 3. Treves F. A case of congenital deformity. 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