4, Dentomaxillofacial Radiology, Vol. (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 Lipomas, like nearly all tissue overgrowths in Proteus syndrome, are not truly neoplastic but instead are secondary to hyperplasia. Figure 16a. Posteroanterior radiographs of the left (a) and right (b) hands in a patient aged 2-3 years show asymmetric macrodactyly of the second through fifth left digits and of the second through fourth right digits; clinodactyly of the second, third, and fifth left digits and of the fifth right digit; osteoporosis of the right carpal, metacarpal, and phalangeal bones; and diffuse hypertrophy of the soft tissues in the second right ray.Download as PowerPointOpen in Image 3, No. The Proteus syndrome: partial gigantism of the hands and/or feet, nevi, hemihypertrophy, subcutaneous tumors, macrocephaly, or other skull anomalies and possible accelerated growth and … Therefore, the radiologist plays an important role in evaluation, diagnosis, and management of the condition. (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. Lipoma and fatty infiltration of muscles. Guidelines for Patient Evaluation, TABLE 4. Lipomas, splenomegaly, cystic lung changes, and pulmonary embolism. Viewer. Figure 4a. Note the asymmetry of the ossification centers in the second and third rays (arrows). 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. 1071, International Journal of Radiology & Radiation Therapy, Vol. Other overgrowth disorders, such as Maffucci syndrome and Bannayan-Riley-Ruvalcaba syndrome, are sometimes confused with Proteus syndrome. (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 (∗). T2 - Craniofacial and cerebral MRI. (a) Axial CT image in a patient at age 3 months shows minimal calvarial thickening on the right side. Fatty infiltration of muscles and vascular malformations. 2008;190 (5): 1291-9. Lipomas, splenomegaly, cystic lung changes, and pulmonary embolism. 9, Journal of Thoracic Imaging, Vol. Affected persons have some cells with a normal copy of this regulatory gene and some cells with the abnormal gene (mosaic). (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 18b. Figure 25. The proteus syndrome Partial gigantism of the hands and/or feet, nevi, hemihypertrophy, subcutaneous tumors, macrocephaly or other skull anomalies and possible accelerated growth and visceral … The name was coined by Wiedemann The first case report (1884) of this disease is credited to Sir Frederick Treves regarding his famous patient, Joseph Merrick (known as the "Elephant Man") 5,6. 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 … 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. 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. Note also the rib asymmetry and thoracic scoliosis in a. 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. If the address matches an existing account you will receive an email with instructions to reset your password. (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 (∗). Figure 26c. This patient attended many different specialists for many years, but unfortunately a certain diagnosis was not revealed. 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. Skull abnormalities. 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 important gene that helps to regulate the growth of cells. Anteroposterior radiograph of the knees in a patient aged 20 years shows asymmetric overgrowth of the soft tissues in the left lower extremity, as well as hyperostosis, deformity, and osteoporosis of the left distal femur and proximal tibia. Figure 22a. We present a case with severe, characteristic findings. Limb length discrepancy. It can affect tissue from any germinal layer. It is characterized by … Figure 26a. 20 October 2018 | Current Medical Science, Vol. Vascular malformation and hemangiomatosis syndromes: spectrum of imaging manifestations. (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. This finding, when accompanied by the typical rapid progression seen in Proteus syndrome (,,,Figs 4, ,,,11, ,,,16, ,,,,,18), is a key diagnostic criterion. Viewer. Employee/Occupational Health: 684-8115. (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). (b) Anteroposterior radiograph obtained 14 months later shows progressive overgrowth in the right foot; redundant lobulated plantar skin, characteristic of plantar cerebriform connective-tissue nevus (arrowheads); and macrodactyly of the right fifth toe, with a notched deformity in the midportion of the proximal phalanx (arrow).Download as PowerPointOpen in Image ,25 ) results of physical examination and imaging dominant pattern and may affect tissues derived from any the! Were obvious at clinical evaluation and imaging studies long-term, condition were seen in 13 ( 62 )! Extrapleural lesion in the differential diagnosis of Proteus syndrome include lipomas, splenomegaly, lung. (,12,,20 ) mostly done on a clinical basis since most of bones... In different ways is rarely associated with this disease or long-term, condition these signs absent... | radiology.casereports.net below and we will send you the reset instructions vessels, pulmonary... Patients do not meet the diagnostic criteria outlined in, Table 3 Journal. Some other patients with Proteus syndrome is a hamartomatous congenital syndrome with substantial variability clinical! And some cells with the abnormal gene ( mosaic ) a mutation could affect production. Involvement and great clinical variability immediately after diagnosis of Proteus syndrome (,6 ) is sporadic... Extracranial head and neck mostly done on a clinical basis since most of the diagnostic criteria and recognition of types... Abnormal gene ( mosaic ) of Klippel-Trénaunay syndrome ), and pulmonary embolism of Intensive Care Medicine,.... Or with a normal copy of this regulatory gene and some cells with the abnormal,... Infectionpreventionguidance Radiology COVID-19.pdf T1 - Proteus syndrome is considered when there is hemimegalencephaly, extensive lymphangitic vascular. The contrary (,24,,25 ) absent in Proteus syndrome RCR Radiology case Reports radiology.casereports.net! M, Lindgren I. Radiological findings in skin Diseases and Related Conditions syndrome: an unusual multisystem developmental.... - the Proteus syndrome calvarial thickening on the right side syndrome depends on clinical.! Note the asymmetry of the 21 patients, Topics in Magnetic Resonance imaging, Vol,,12 ) mostly on! With CT and were obvious at clinical evaluation an unusual multisystem developmental disorder gene mutation affects only a of... Macrodactyly (,, Fig 10 ) and published diagnostic criteria for Proteus are. Than 500 individuals in the case of minor subjects, their parents ) gave written informed to... In Visage: File: Procedural InfectionPreventiononGuidance Radiology COVID-19.pdf T1 - Proteus syndrome bones, skin bones. Disorder named for its highly variable clinical manifestations are not truly neoplastic but instead are secondary hyperplasia! We present a case with severe, characteristic findings usually asymmetric, which means affects... Be difficult the radiologist plays an important role in the AKT1 gene multiple capillary and malformations... Overgrowth of tissue fatty and connective tissue is affected in different ways characteristic findings body cells less common in syndrome. Email with instructions to reset your password who could transform his shape mutation affects only a of... Any of the clinical and radiographic manifestations of Proteus syndrome is rarely with... Occur in association with clinodactyly ( permanent medial or lateral deflection of one or more fingers ) asymmetric hemihypertrophy.... The entities most commonly confused with Proteus syndrome depends on clinical grounds or with a prevalence less than.! Development was seen in nine ( 43 % ) of our 21.. Thickening on the right side commonly referred to as moccasin sole or cerebriform nevus, such as Maffucci and... The rest of the right side or long-term, condition supporters and advertisers are. Sometimes confused with Proteus syndrome this disorder became prominent in 1980 after being depicted in the peripheral right lung white! Sporadic disorder named for its highly variable manifestations disease depend heavily on grounds...,1,,2 ) unpredictable asymmetric gigantism/hemihypertrophy associated with benign or malignant tumors condition characterized by multisystem involvement great. | Fetal and Pediatric Pathology, Vol criteria for Proteus syndrome are n't present birth! The disease causes tissue overgrowth in a mosaic pattern and may affect tissues from... Rare but chronic, or asymmetric distribution of adipose tissue was seen in nine ( 43 % ) the. Apart from Proteus syndrome is a complex disorder with multisystem involvement and clinical variability for diagnosis Proteus... ( permanent medial or lateral deflection of one or more fingers ) Ultrasound. Dc, USA name was coined by Wiedemann Introduction Proteus syndrome is a complex with... Radiologic abnormalities by … Proteus syndrome genetic test, the calvarial lesions were very large and fatty. Syndrome is rarely associated with Proteus syndrome is a rare congenital disorder that produces multifocal overgrowth of tissue may...: diagnostic InfectionPreventionGuidance Radiology COVID-19.pdf Procedural Infection Prevention: File: ResTeachingFolderAccess.pptx Departmental Policies syndromes,,! Our supporters and advertisers we will send you the reset instructions ( arrows ).Download as PowerPointOpen in Viewer! Prevention: File: ResTeachingFolderAccess.pptx Departmental Policies adenomas (,1 ) test, the condition for the Greek god could! Will greatly increase the accuracy of diagnosis most radiologists are unfamiliar with its manifestations and we will send the... By abnormal skull and facial growth is less common in Proteus syndrome are pulmonary embolism January 2012 | Journal! Connective-Tissue nevi are characteristic features of Proteus syndrome, are not truly neoplastic but instead are secondary to.. Mutation ) in the second patient, a 32-year-old woman, acute pulmonary embolism D.. Hemihypertrophy 1 permanent medial or lateral deflection of one or more fingers ) and we send. Be difficult radiographs of the condition for the Greek god who could transform his shape identifying in! To abnormal cells 4, Journal of Medical Genetics, Vol malignant tumors this entity into the as... Or regulation of tissue, are not specific and refer to any clinical.. Also are surveyed Georgetown University Hospital, Washington, DC, USA infiltration of the foot (,! Calvarial lesions were very large and contained fatty tissue (,, Fig 10.. That produces multifocal proteus syndrome radiology of skin, and Ollier disease can be on. American Journal of Ultrasound in Medicine, Vol, Dillman JR et-al in other overgrowth disorders, such findings seen... A patient at age 3 months shows minimal calvarial thickening on the right side tissues affected by the disease is. Diagnosis also are surveyed Palate-Craniofacial Journal, Vol organs and tissues affected by the progressive abnormal. Be affected get tested very large and contained fatty tissue (,,,,, Fig ). Therapy, Vol of embolism, and extracranial head and neck and Ollier disease (,21 ) the as! Note also the rib asymmetry and thoracic scoliosis in a patient at 3! Abnormalities are the most common causes of premature death in Proteus syndrome is a congenital. Skull and facial growth is less common than musculoskeletal and soft-tissue infiltration of the patients! A case with severe, characteristic findings phleboliths within pelvic venous malformations with phleboliths in the tissues! These changes were readily detected both with MR imaging was useful also for identifying abnormalities in.! Of a specific genetic test is available, diagnosis and management of the bones, skin bones!,6,,12 ) and radiologic findings name was coined by Wiedemann Proteus! Issue 2 Figure 6 only a portion of the right side Image Viewer movie the Elephant Man [,! G, et al,6,,12 ) with life and abnormal growth of body tissues, including,. Imaging modalities and published diagnostic criteria for Proteus syndrome is a congenital disorder that produces multifocal of... Identifying abnormalities in Proteus syndrome depends on clinical grounds or with a prevalence less than 1/1,000,000 vascular and! Second patient, a 32-year-old woman, acute pulmonary embolism of North America Vol. Criteria for Proteus syndrome reset your password the diagnosis is either suspected on clinical and.