A síndrome de Proteus (PS) é um distúrbio de crescimento hamartomatoso muito raro e complexo, caracterizado por crescimento excessivo progressivo do esqueleto, da pele, do sistema adiposo e do sistema nervoso central.
Introdução
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A síndrome de Proteus (PS) é um distúrbio de crescimento hamartomatoso muito raro e complexo, caracterizado por crescimento excessivo progressivo do esqueleto, da pele, do sistema adiposo e do sistema nervoso central.
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Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 45 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 136 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
1 gene identificado com associação a esta condição. Padrão de herança: Not applicable.
AKT1 is one of 3 closely related serine/threonine-protein kinases (AKT1, AKT2 and AKT3) called the AKT kinase, and which regulate many processes including metabolism, proliferation, cell survival, growth and angiogenesis (PubMed:11882383, PubMed:15526160, PubMed:15861136, PubMed:21432781, PubMed:21620960, PubMed:31204173). This is mediated through serine and/or threonine phosphorylation of a range of downstream substrates (PubMed:11882383, PubMed:15526160, PubMed:21432781, PubMed:21620960, PubMe
CytoplasmNucleusCell membraneMitochondrion intermembrane space
Breast cancer
A common malignancy originating from breast epithelial tissue. Breast neoplasms can be distinguished by their histologic pattern. Invasive ductal carcinoma is by far the most common type. Breast cancer is etiologically and genetically heterogeneous. Important genetic factors have been indicated by familial occurrence and bilateral involvement. Mutations at more than one locus can be involved in different families or even in the same case.
Medicamentos e terapias
Mecanismo: Serine/threonine-protein kinase AKT inhibitor
Variantes genéticas (ClinVar)
93 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 18 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
30 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Síndrome Proteus
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Outros ensaios clínicos
7 ensaios clínicos encontrados, 3 ativos.
Publicações mais relevantes
3D CT cinematic rendering of microcardia and multiple thoracoabdominal venous dilation in Proteus syndrome.
The PTEN hamartoma tumor syndrome (PHTS) includes Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome (BRRS), PTEN-related Proteus syndrome (PS), and PTEN-related Proteus-like syndrome. CS is a multiple hamartoma syndrome with a high risk for benign and malignant tumors of the thyroid, breast, kidney, and endometrium. Affected individuals usually have macrocephaly, trichilemmomas, and papillomatous papules, and present by the late 20s. The lifetime risk of developing breast cancer is 85%, with an average age of diagnosis between 38 and 46 years. The lifetime risk for thyroid cancer (usually follicular, rarely papillary, but never medullary thyroid cancer) is approximately 35%. The lifetime risk for renal cell cancer (predominantly of papillary histology) is 34%. The risk for endometrial cancer may approach 28%. BRRS is a congenital disorder characterized by macrocephaly, intestinal hamartomatous polyposis, lipomas, and pigmented macules of the glans penis. PS is a complex, highly variable disorder involving congenital malformations and hamartomatous overgrowth of multiple tissues, as well as connective tissue nevi, epidermal nevi, and hyperostoses. Proteus-like syndrome is undefined but refers to individuals with significant clinical features of PS who do not meet the diagnostic criteria for PS. The diagnosis of PHTS is established in a proband by identification of a heterozygous germline PTEN pathogenic variant on molecular genetic testing. Treatment of manifestations: Treatment for the benign and malignant manifestations of PHTS is the same as for their sporadic counterparts. Topical agents (e.g., 5-fluorouracil), curettage, cryosurgery, or laser ablation may alleviate the mucocutaneous manifestations of CS but are rarely utilized; cutaneous lesions should be excised only if malignancy is suspected or symptoms (e.g., pain, deformity, increased scarring) are significant. Surveillance: To detect tumors at the earliest, most treatable stages: Children (age <18 years). Yearly thyroid ultrasound from the time of diagnosis (earliest reported at age 7 years) and skin check with physical examination. Adults. Yearly thyroid ultrasound and dermatologic evaluation. Women beginning at age 30 years. Monthly breast self-examination; annual breast screening (at minimum mammogram; MRI may also be incorporated). Starting by age 35 years, consider transvaginal ultrasound or endometrial biopsy. Men and women. Colonoscopy beginning at age 35 years with frequency dependent on degree of polyposis identified or family history of early-onset colon cancer (before age 40); biennial (every 2 years) renal imaging (CT or MRI preferred) beginning at age 40 years. Those with a family history of a particular cancer type at an early age. Consider initiating screening 5 to 10 years prior to the youngest age of diagnosis in the family. Evaluation of relatives at risk: When a PTEN pathogenic variant has been identified in a proband, molecular genetic testing of asymptomatic at-risk relatives can identify those who have the family-specific pathogenic variant and warrant ongoing surveillance. PHTS is inherited in an autosomal dominant manner. Because CS is likely underdiagnosed, the actual proportion of simplex cases (defined as individuals with no obvious family history) and familial cases (defined as ≥2 related affected individuals) cannot be determined. The majority of CS cases are simplex. Perhaps 10%-50% of individuals with CS have an affected parent. Each child of an affected individual has a 50% chance of inheriting the pathogenic variant and developing PHTS. Once a PTEN pathogenic variant has been identified in an affected family member, prenatal testing for a pregnancy at increased risk is possible.
Pulmonary Involvement in Proteus Syndrome: Clinical and Imaging Correlates in a Rare Case.
Proteus syndrome is an uncommon, sporadic disorder characterized by progressive and heterogeneous overgrowth of tissues, resulting in distorted and asymmetric development. In most individuals, Proteus syndrome has minimal to no manifestations at birth but progresses during childhood and adolescence. Clinical manifestations of the disease include isolated asymmetric hemihyperplasia, isolated asymmetric macrodactyly, subcutaneous masses, plantar and palmar cerebriform fibrous overgrowth, exostoses, epidermal nevi, and scoliosis. Cardiothoracic structures are less commonly involved, and the manifestations include cystic lung changes, pulmonary thromboembolism and varicosities, and pulmonary nodules. Patients with Proteus syndrome have an increased risk of early death due to deep venous thrombosis and pulmonary embolism. We report a case of an adult female who was diagnosed with Proteus syndrome at the age of 5 years who had multiple pulmonary manifestations of the disease.
Characterizing Paratesticular Neoplasms in Proteus Syndrome.
Proteus syndrome is a rare mosaic overgrowth disorder caused by somatic activating variants in AKT1 , most commonly the c.49G>A p.(Glu17Lys) variant. It predisposes individuals to asymmetric tissue proliferation and an elevated risk for both benign and malignant neoplasms. Among 64 males with genetically confirmed Proteus syndrome enrolled in a longitudinal natural history study, 12 (19%) underwent surgery for paratesticular masses. The average age at surgery was 9 years, most tumors were unilateral, small (median 1.6 cm), and slow growing, but 50% showed recurrence or metachronous tumor development, occasionally with progression to more atypical histology. Histologically, these tumors demonstrated a broad spectrum of differentiation. Eight reviewed cases included Müllerian-type papillary cystadenomas and low-grade papillary adenocarcinomas, a Brenner tumor, and one case of a papillary adenocarcinoma with spindle cell transformation. The epithelial components were typically arranged in papillary and glandular architectures, with variable degrees of cytologic atypia. Psammomatous calcifications were common. Immunohistochemistry showed consistent expression of PAX8(7/7), WT1(7/7), estrogen receptor (ER)(7/7), and progesterone receptor (PR)(6/7), supporting Müllerian lineage, while negative staining for germ cell and mesothelial markers excluded common paratesticular differential diagnoses. Four of the 7 tumors were positive for SF-1. All 7/7 sequenced tumors harbored the AKT1 c.49G>A variant with no additional oncogenic alterations identified by exome sequencing. This series is the largest series to date documenting the clinicopathologic features of paratesticular tumors, a poorly understood component of the Proteus syndrome phenotype.
A Case Report of a Mild and Atypical Presentation of Proteus Syndrome.
Proteus syndrome (PS) is a rare genetic disorder caused by mosaic AKT1 mutations, leading to progressive and asymmetric overgrowth. We report a mildly symptomatic 12-year-old male with left lower limb overgrowth and an epidermal nevus, whose diagnosis was confirmed through molecular diagnostics. Targeted NGS identified the pathogenic AKT1 c.49G>A mutation in affected tissues, supporting the diagnosis despite the absence of hallmark features like cerebriform connective tissue nevus. This case highlights the importance of genetic testing in subtle presentations of PS, enabling early diagnosis, monitoring, and intervention to mitigate potential complications.
A Case of Proteus Syndrome, Suspected as Maffucci Syndrome in a Chinese Child.
Proteus syndrome (PS) is an exceptionally rare disorder characterized by asymmetric and disproportionate overgrowth of connective tissues. We report the case of an 8-year-old female presenting with irregular cranial protrusion, bilateral supraorbital ridge enlargement, overgrowth of the right hand and left foot, and a pelvic MRI revealing an ovarian tumor. Initially, the patient was suspected of having Maffucci syndrome (MS) upon admission. Genetic analysis of a lesion sample from the fifth toe of the left foot identified a heterozygous point mutation, 49G > A (p.Glu17Lys), in the AKT1 gene. The patient met the clinical-molecular diagnostic criteria established by Leslie G. Biesecker, scoring 15 points, thereby confirming the diagnosis of AKT1-related PS. This case report contributes to the enhanced understanding of PS diagnosis associated with AKT1 mutations.
Publicações recentes
Endovascular embolization of a superior gluteal artery aneurysm in Proteus syndrome.
Pulmonary Involvement in Proteus Syndrome: Clinical and Imaging Correlates in a Rare Case.
Characterizing Paratesticular Neoplasms in Proteus Syndrome.
Analysis of the Occurrence of PIK3CA Gene Mutation in Children with Lymphatic Malformation-Single Center Study.
Postoperative rehabilitation in a patient with Proteus syndrome following scoliosis surgery: A case report.
📚 EuropePMC437 artigos no totalmostrando 197
Pulmonary Involvement in Proteus Syndrome: Clinical and Imaging Correlates in a Rare Case.
Case reports in radiologyCharacterizing Paratesticular Neoplasms in Proteus Syndrome.
The American journal of surgical pathologyAnalysis of the Occurrence of PIK3CA Gene Mutation in Children with Lymphatic Malformation-Single Center Study.
Children (Basel, Switzerland)Postoperative rehabilitation in a patient with Proteus syndrome following scoliosis surgery: A case report.
MedicineTargeted management of vascular anomalies.
Journal of the European Academy of Dermatology and Venereology : JEADVA Case Report of a Mild and Atypical Presentation of Proteus Syndrome.
Pediatric dermatologyA Case of Proteus Syndrome, Suspected as Maffucci Syndrome in a Chinese Child.
Case reports in pediatricsExploring Prenatal Signs of Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, and Skeletal Anomalies (CLOVES) Syndrome: A Case Report and Literature Review.
Cureus3D CT cinematic rendering of microcardia and multiple thoracoabdominal venous dilation in Proteus syndrome.
European heart journal. Cardiovascular ImagingSafety findings from the phase 1/2 MOSAIC study of miransertib for patients with PIK3CA-related overgrowth spectrum or Proteus syndrome.
Orphanet journal of rare diseasesProteus syndrome with late diagnosis confirmation: a case report.
Frontiers in pediatricsGross hematuria associated to bladder vascular malformation in Proteus syndrome successfully treated with holmium laser fulguration: A case report.
Urology case reportsPlacental transmogrification of the lung in AKT1-related Proteus syndrome.
ERJ open researchProteus Syndrome: Manifestations of Systemic Deformities.
RadiologyA diagnostic challenge: A rare case of PTEN hamartoma of soft tissue of the mental region.
International journal of surgery case reportsThoracic facet overgrowth causing radiculopathy - A rare spinal manifestation of Proteus syndrome.
Clinical neurology and neurosurgeryPrenatal Diagnosis of Proteus Syndrome: About a Case.
American journal of medical genetics. Part ATumour spectrum in AKT1-related Proteus syndrome: a systematic review of clinical reports and series.
Journal of medical geneticsProteus syndrome: A rare case report.
Asian journal of surgeryManagement of Children with Megafoot Secondary to Proteus Syndrome: A Report of Three Cases with Long-Term Follow-Up.
Journal of the American Podiatric Medical AssociationIntraspinal lipomatous neurofibroma in a child with atypical Proteus syndrome.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryProteus syndrome with progressive paralysis of the unilateral lower limb: A rare case report and literature review.
HeliyonAlterations of the AKT Pathway in Sporadic Human Tumors, Inherited Susceptibility to Cancer, and Overgrowth Syndromes.
Current topics in microbiology and immunologyProteus Syndrome: Case Report and Updated Literature Review.
Archives of plastic surgeryProteus Syndrome: A Rare Congenital Disorder.
CureusDermato-Radiological Evaluation of Congenital Limb Overgrowth Vascular Syndromes.
Indian dermatology online journalInsights into Clinical Disorders in Cowden Syndrome: A Comprehensive Review.
Medicina (Kaunas, Lithuania)Proteus syndrome: a dermatologist's perspective -case report.
International journal of dermatologyCase report: Association between PTEN-gene variant and an aggressive case of multiple dAVFs.
Frontiers in neurologyHuman vascular organoids with a mosaic AKT1 mutation recapitulate Proteus syndrome.
bioRxiv : the preprint server for biologyQuantification of Proteus syndrome-associated lung disease.
Orphanet journal of rare diseasesOptic nerve compression: a rare ocular manifestation of Proteus syndrome.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and StrabismusSinonasal Neuroendocrine Carcinoma in Adult Proteus Syndrome.
Iranian journal of otorhinolaryngologyOphthalmic manifestations and treatments of proteus syndrome: a case report and systematic review.
European review for medical and pharmacological sciencesRecurrent laryngeal lymphangiomatosis in a patient with Proteus syndrome: A case report.
Clinical case reportsLipomas: genetic basis of common skin lesions and their occurrence in rare diseases.
Postepy dermatologii i alergologiiCerebriform Plaques in Proteus Syndrome.
Mayo Clinic proceedingsSomatic mutation spectrum of a Chinese cohort of pediatrics with vascular malformations.
Orphanet journal of rare diseasesDiscovering Deleterious Single Nucleotide Polymorphisms of Human AKT1 Oncogene: An In Silico Study.
Life (Basel, Switzerland)Pleckstrin Homology [PH] domain, structure, mechanism, and contribution to human disease.
Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapieProteus Syndrome: A Rare Disease Of Disproportionate And Asymmetric Overgrowth Of Connective Tissue.
Journal of Ayub Medical College, Abbottabad : JAMCCo-occurrence of Proteus syndrome and ventricular tachycardia cardiac arrest in a teenager.
American journal of medical genetics. Part AEpidermal nevus superimposed by psoriatic plaque in a girl with proteous syndrome.
Clinical case reportsCase for diagnosis. Vascular malformations, hemihypertrophy and macrodactyly: Proteus syndrome.
Anais brasileiros de dermatologiaLocalized heterochrony integrates overgrowth potential of oncogenic clones.
Disease models & mechanismsProteus Syndrome, Anticipated Difficult Airway, and 2 Trusted Lieutenants!
Turkish journal of anaesthesiology and reanimationA "V"-Shaped Intraoral Lipoma on the Floor of the Mouth: A Case Report.
CureusA Rare Case of an Asymmetric Overgrowth Syndrome in a Kenyan African Child: A Case Report and Review of Literature.
CureusVascular Anomaly Syndromes in the ISSVA Classification System: Imaging Findings and Role of Interventional Radiology in Management.
Radiographics : a review publication of the Radiological Society of North America, IncProteus syndrome with sciatic nerve fibrolipomatous hamartoma: an uncommon finding in a rare disease: report of two cases with literature review.
BJR case reportsCongenital difference of the hand and foot: Pediatric macrodactyly.
Journal of plastic, reconstructive & aesthetic surgery : JPRASVerrucous epidermal nevus as a manifestation of a type 2 mosaic PTEN mutation in Cowden syndrome.
Pediatric dermatologyChemically-induced osteogenic cells for bone tissue engineering and disease modeling.
BiomaterialsMultimodal ocular imaging in Proteus syndrome.
European journal of ophthalmologySirolimus treatment of a PTEN hamartoma tumor syndrome presenting with melena.
The Turkish journal of pediatricsAssessing Cutaneous Mosaicism at the Molecular Level.
The Journal of investigative dermatologyPhenotypic Features of Cystic Lung Disease in Proteus Syndrome: A Clinical Trial.
Annals of the American Thoracic SocietyPostmortem Diagnosis of the Proteus Syndrome by Next Generation Sequencing of Affected Brain Tissue.
Academic forensic pathologyPrecapillary pulmonary arterial hypertension in a patient with Proteus syndrome.
Pulmonary circulationVEGF Pathway Gene Expression Profile of Proliferating versus Involuting Infantile Hemangiomas: Preliminary Evidence and Review of the Literature.
Children (Basel, Switzerland)Progressive frontal intraosseous lipoma: Detection of the mosaic AKT1 variant discloses Proteus syndrome.
Clinical geneticsThe Role of Interventional Pain Management in Proteus Syndrome: A Case Report.
CureusProteus-Like Syndrome: A Rare Phenotype of Phosphatase and Tensin Homolog Hamartoma Tumor Syndrome.
CureusDevelopment of the Clinical Gestalt Assessment: a visual clinical global impression scale for Proteus syndrome.
Orphanet journal of rare diseasesLate-onset Proteus syndrome with cerebriform connective tissue nevus and subsequent development of intraductal papilloma.
American journal of medical genetics. Part APhenotypic and molecular characterization of five patients with PIK3CA-related overgrowth spectrum (PROS).
American journal of medical genetics. Part ACompartment Syndrome following Below-Knee Amputation.
Case reports in orthopedicsUnusual Cause for Abdominal Pain and Chronic Constipation in a Young Female Patient.
GastroenterologyA rare gynecologic presentation of proteus syndrome: A case report.
Case reports in women's healthProteus syndrome in pregnancy: A case report.
Obstetric medicineMacrodystrophia Lipomatosa: A Rare Cause of Bilateral Lower Limb Gigantism.
CureusEpidermal Nevi: What Is New.
Dermatologic clinicsReduction of Disease Burden With Early Sirolimus Treatment in a Child With Proteus Syndrome.
JAMA dermatologyProteus Syndrome: Case Report with Anatomopathological Correlation.
Fetal and pediatric pathologyCase report: five-year experience of AKT inhibition with miransertib (MK-7075) in an individual with Proteus syndrome.
Cold Spring Harbor molecular case studiesThe Forgotten Phacomatoses: A Neuroimaging Review of Rare Neurocutaneous Disorders.
Current problems in diagnostic radiologyDermatologic findings in individuals with genetically confirmed Proteus syndrome.
Pediatric dermatologyImmature teratoma in an adolescent with Proteus syndrome: A novel association.
Clinical case reportsClinical Phenotype and Bone Biopsy Characteristics in a Child with Proteus Syndrome.
Calcified tissue internationalProteus Syndrome: A Rare Case in An Adult Ward.
European journal of case reports in internal medicinePhenotype and Surgical Treatment in a Case of Proteus Syndrome With Craniofacial and Oral Findings.
In vivo (Athens, Greece)Cardiothoracic imaging findings of Proteus syndrome.
Scientific reportsClinical experience with the AKT1 inhibitor miransertib in two children with PIK3CA-related overgrowth syndrome.
Orphanet journal of rare diseasesCorrigendum: Overgrowth Syndromes-Evaluation, Diagnosis, and Management.
Frontiers in pediatricsProteus syndrome caused by novel somatic AKT1 duplication.
Saudi medical journalCharacterization and Childhood Tumor Risk Assessment of Genetic and Epigenetic Syndromes Associated With Lateralized Overgrowth.
Frontiers in pediatricsGenes and phenotypes in vascular malformations.
Clinical and experimental dermatologyGiant Cell Tumor of Tendon Sheath Developed over Chimeric-Free Latissimus Dorsi and Serratus Anterior Muscle Flaps.
Journal of hand and microsurgeryOvergrowth Syndromes-Evaluation, Diagnosis, and Management.
Frontiers in pediatricsGenetics of vascular anomalies.
Seminars in pediatric surgeryOvergrowth syndromes and new therapies.
Seminars in pediatric surgeryPhenotypic and genetic spectrum of isolated macrodactyly: somatic mosaicism of PIK3CA and AKT1 oncogenic variants.
Orphanet journal of rare diseasesUbiquitous expression of Akt1 p.(E17K) results in vascular defects and embryonic lethality in mice.
Human molecular geneticsAcne following Blaschko's lines in Proteus syndrome.
JAAD case reportsNAA10 p.(N101K) disrupts N-terminal acetyltransferase complex NatA and is associated with developmental delay and hemihypertrophy.
European journal of human genetics : EJHGPrenatal diagnosis of Proteus syndrome: Diagnosis of an AKT1 mutation from amniocytes.
Birth defects researchProphylactic anticoagulation of individuals with Proteus syndrome and COVID-19.
American journal of medical genetics. Part APathogenic postzygotic mosaicism in the tyrosine receptor kinase pathway: potential unidentified human disease hidden away in a few cells.
The FEBS journalProteus syndrome of the foot: A case report and literature review.
Experimental and therapeutic medicineMisaligned foveal morphology and sector retinal dysfunction in AKT1-mosaic Proteus syndrome.
Documenta ophthalmologica. Advances in ophthalmologyProteus Syndrome, a rare case with an unusual presentation: Case report.
International journal of surgery case reports[Proteus syndrome in the practice of an otorhinolaryngologist: a clinical case].
Vestnik otorinolaringologiiAllelic heterogeneity of Proteus syndrome.
Cold Spring Harbor molecular case studiesScoliosis Associated with Proteus Syndrome: Report of 2 Cases and Review of the Literature.
World neurosurgeryHypertrichotic patches as a mosaic manifestation of Proteus syndrome.
Journal of the American Academy of DermatologyClinical report: one year of treatment of Proteus syndrome with miransertib (ARQ 092).
Cold Spring Harbor molecular case studiesA case report of Proteus syndrome (PS).
BMC medical geneticsCase Report: Occupational therapy in a patient with an overgrowth syndrome that restricts movement.
F1000ResearchSupraglottic Mass Management in a Pediatric Patient with Proteus Syndrome.
AnesthesiologyMaxillofacial manifestations of Proteus syndrome: a systematic review with a case report.
Oral radiologyVascular malformations syndromes: an update.
Current opinion in pediatricsA dyadic genotype-phenotype approach to diagnostic criteria for Proteus syndrome.
American journal of medical genetics. Part C, Seminars in medical geneticsThrombosis risk factors in PIK3CA-related overgrowth spectrum and Proteus syndrome.
American journal of medical genetics. Part C, Seminars in medical geneticsMolecular heterogeneity of the cerebriform connective tissue nevus in mosaic overgrowth syndromes.
Cold Spring Harbor molecular case studiesCloves Syndrome: A Rare Disorder of Overgrowth with Unusual Features - An Uncommon Phenotype?
Indian dermatology online journal[A clinical study of Proteus syndrome caused by a mosaic somatic mutation in AKT1 gene].
Zhonghua nei ke za zhiA mouse model of Proteus syndrome.
Human molecular geneticsFirst evidence of a therapeutic effect of miransertib in a teenager with Proteus syndrome and ovarian carcinoma.
American journal of medical genetics. Part AWhat's New in Genetic Skin Diseases.
Dermatologic clinicsCongenital Limb Overgrowth Syndromes Associated with Vascular Anomalies.
Radiographics : a review publication of the Radiological Society of North America, IncPharmacodynamic Study of Miransertib in Individuals with Proteus Syndrome.
American journal of human geneticsMolecular diagnosis of somatic overgrowth conditions: A single-center experience.
Molecular genetics & genomic medicineSelection of anesthesia for lower extremity surgery of patients with Proteus Syndrome.
Journal of clinical anesthesiaMiransertib (ARQ 092), an orally-available, selective Akt inhibitor is effective against Leishmania.
PloS oneCharacterization of the hepatosplenic and portal venous findings in patients with Proteus syndrome.
American journal of medical genetics. Part ASoft-tissue vascular malformations and tumors. Part 2: low-flow lesions.
RadiologiaSevere gynaecological involvement in Proteus Syndrome.
European journal of medical geneticsPIK3CA c.3140A>G mutation in a patient with suspected Proteus Syndrome: a case report.
Clinical case reportsEpidermal Nevi and Related Syndromes -- Part 1: Keratinocytic Nevi.
Actas dermo-sifiliograficasCase Report: "Incognito" proteus syndrome.
F1000ResearchMyths and Misdiagnoses of Proteus Syndrome.
Asian journal of anesthesiologyGiant umbilical cord and hypoglycemia in an infant with Proteus syndrome.
American journal of medical genetics. Part APatient with Proteus syndrome and paratesticular ovarian-type papillary serous carcinoma.
Pediatric blood & cancer[New nosological and therapeutic perspectives in syndromic vascular malformations with a vein-lymphatic component].
La Revue de medecine interneProtean manifestations of Proteus syndrome.
Postgraduate medical journalPrenatal diagnosis of a fetus with Proteus syndrome.
Prenatal diagnosisIn vitro efficacy of ARQ 092, an allosteric AKT inhibitor, on primary fibroblast cells derived from patients with PIK3CA-related overgrowth spectrum (PROS).
NeurogeneticsHemimegalencephaly with Bannayan-Riley-Ruvalcaba syndrome.
Epileptic disorders : international epilepsy journal with videotapeEarly history of the different forms of neurofibromatosis from ancient Egypt to the British Empire and beyond: First descriptions, medical curiosities, misconceptions, landmarks, and the persons behind the syndromes.
American journal of medical genetics. Part AOrthopaedic Management of Leg-length Discrepancy in Proteus Syndrome: A Case Series.
Journal of pediatric orthopedicsPathogenetic insights from quantification of the cerebriform connective tissue nevus in Proteus syndrome.
Journal of the American Academy of DermatologyThe importance of prenatal 3-dimensional sonography in a case of a segmental overgrowth syndrome with unclear chromosomal microarray results.
Journal of clinical ultrasound : JCUProteus Syndrome With a Cranial Intraosseous Lipoma.
The Journal of craniofacial surgeryProteus syndrome: Unveiling the anesthetic myths.
Asian journal of anesthesiologyClinical and sonographic features of pediatric soft-tissue vascular anomalies part 2: vascular malformations.
Pediatric radiologyNasopharyngeal angiofibroma in an adult with Proteus syndrome. First reported case.
HippokratiaQuantifying survival in patients with Proteus syndrome.
Genetics in medicine : official journal of the American College of Medical GeneticsCharacterization of thrombosis in patients with Proteus syndrome.
American journal of medical genetics. Part AIn vivo efficacy of the AKT inhibitor ARQ 092 in Noonan Syndrome with multiple lentigines-associated hypertrophic cardiomyopathy.
PloS oneRefractory sleep-disordered breathing due to unilateral lingual tonsillar hypertrophy in a child with Proteus Syndrome.
International journal of pediatric otorhinolaryngologyProteus Syndrome with Neurological Manifestations: A Rare Presentation.
Journal of pediatric neurosciencesDe Novo PTEN Mutation in a Young Boy with Cutaneous Vasculitis.
Case reports in pediatricsOvergrowth Syndromes Caused by Somatic Variants in the Phosphatidylinositol 3-Kinase/AKT/Mammalian Target of Rapamycin Pathway.
The Journal of molecular diagnostics : JMDMolecular Diagnosis of Mosaic Overgrowth Syndromes Using a Custom-Designed Next-Generation Sequencing Panel.
The Journal of molecular diagnostics : JMDProteus syndrome: A case report and review of the literature.
Molecular and clinical oncologyProteus Syndrome with Arteriovenous Malformation.
Advanced biomedical researchA Rare Case of Diffuse Hemangiomatosis of the Spleen with Splenic Rupture following Aortic Valve Replacement.
Case reports in radiologyAnaesthesia and orphan diseases: Airway management in Proteus disease.
European journal of anaesthesiologyRedundant plantar skin folds.
Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologieMosaic Disorders of the PI3K/PTEN/AKT/TSC/mTORC1 Signaling Pathway.
Dermatologic clinicsRecurrent cerebriform connective tissue nevus on the foot of a patient with Proteus syndrome.
CutisSomatic overgrowth disorders of the PI3K/AKT/mTOR pathway & therapeutic strategies.
American journal of medical genetics. Part C, Seminars in medical geneticsBronchoscopic concerns in Proteus syndrome: a case report.
Korean journal of anesthesiologyNeurocutaneous Manifestations of Genetic Mosaicism.
Journal of pediatric geneticsOvergrowth syndromes with vascular malformations.
Seminars in cutaneous medicine and surgeryGenetic basis for vascular anomalies.
Seminars in cutaneous medicine and surgerySomatic AKT1 mutations cause meningiomas colocalizing with a characteristic pattern of cranial hyperostosis.
American journal of medical genetics. Part AEarly Recognition of Proteus Syndrome.
Pediatric dermatologyHemispherectomy Procedure in Proteus Syndrome.
Iranian journal of child neurologyRHEGMATOGENOUS RETINAL DETACHMENT: A RARE OCULAR MANIFESTATION OF PROTEUS SYNDROME.
Retinal cases & brief reportsLack of mutation-histopathology correlation in a patient with Proteus syndrome.
American journal of medical genetics. Part AAcquired lymphangiectasia (lymphangioma circumscriptum) of the vulva: Clinicopathologic study of 11 patients from a single institution and 67 from the literature.
International journal of dermatologyExtending the spectrum of AKT1 mosaicism: not just the Proteus syndrome.
The British journal of dermatologyPhosphatase and Tensin Homolog Hamartoma Tumor Syndrome: A Case Report.
Clinical advances in periodonticsProteus syndrome: evaluation of the immunological profile.
Orphanet journal of rare diseasesMosaic Neurocutaneous Disorders and Their Causes.
Seminars in pediatric neurologyRepression of AKT signaling by ARQ 092 in cells and tissues from patients with Proteus syndrome.
Scientific reportsEpidermal nevus syndromes.
Handbook of clinical neurologyPhenotype/genotype correlations in epidermal nevus syndrome as a neurocristopathy.
Handbook of clinical neurologyEndometrioid Paraovarian Borderline Cystic Tumor in an Infant with Proteus Syndrome.
Case reports in oncological medicineUnilateral hypertrophic skin lesions, hemimegalencephaly, and meningioma: The many faces of Proteus syndrome.
Indian dermatology online journalThe categories of cutaneous mosaicism: A proposed classification.
American journal of medical genetics. Part AOrthopaedic manifestations of Proteus syndrome in a child with literature update.
Bone reportsA Paratesticular Serous Borderline Tumor in a Pediatric Patient With Proteus Syndrome.
UrologyBrentuximab vedotin in the treatment of a patient with refractory Hodgkin disease and Proteus syndrome - a case report and discussion.
Clinical case reportsIsland nail flap in the treatment of foot macrodactyly of the first ray in children: report of two cases.
Journal of children's orthopaedicsEpithelial Tumors of the Ovary in Children and Teenagers: A Prospective Study from the Italian TREP Project.
Journal of pediatric and adolescent gynecologyOperative Management of OSAS in a Complex Case of Proteus Syndrome.
Case reports in otolaryngologyHuge paravertebral masses in Proteus syndrome.
The spine journal : official journal of the North American Spine SocietyEpidemiology of elephantiasis with special emphasis on podoconiosis in Ethiopia: A literature review.
Journal of vector borne diseases[Dermatological implications of the PI3K pathway].
Annales de dermatologie et de venereologieAdvances in Skeletal Dysplasia Genetics.
Annual review of genomics and human geneticsProteus syndrome: what the anesthetist should know.
Journal of clinical anesthesiaSurgical correction of kyphotic deformity in a patient with Proteus syndrome.
The spine journal : official journal of the North American Spine SocietyHemilateral proteus syndrome: an unusual hamartomatous disorder with significant cerebellar tonsillar herniation.
Indian journal of dermatologyProteus syndrome: Report of a case with AKT1 mutation in a dental cyst.
European journal of medical geneticsFronto-temporal cerebriform connective tissue nevus in Proteus syndrome.
Indian journal of dental research : official publication of Indian Society for Dental ResearchAssociações
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Comunidades
Grupos ativos de quem convive com esta doença aqui no Raras
Ainda não existe comunidade no Raras para Síndrome Proteus
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- 3D CT cinematic rendering of microcardia and multiple thoracoabdominal venous dilation in Proteus syndrome.
- Pulmonary Involvement in Proteus Syndrome: Clinical and Imaging Correlates in a Rare Case.
- Characterizing Paratesticular Neoplasms in Proteus Syndrome.
- A Case Report of a Mild and Atypical Presentation of Proteus Syndrome.
- A Case of Proteus Syndrome, Suspected as Maffucci Syndrome in a Chinese Child.
- Endovascular embolization of a superior gluteal artery aneurysm in Proteus syndrome.
- Analysis of the Occurrence of PIK3CA Gene Mutation in Children with Lymphatic Malformation-Single Center Study.
- Postoperative rehabilitation in a patient with Proteus syndrome following scoliosis surgery: A case report.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:744(Orphanet)
- OMIM OMIM:176920(OMIM)
- MONDO:0008318(MONDO)
- GARD:7475(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- Q281115(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
