Uma malformação capilar (MC), ou mancha em vinho do Porto ou, ainda nevus flammeus (termos históricos) é, quase sempre, uma mancha, sinal ou marca de nascença. É causada por uma anomalia vascular de capilares.
Introdução
O que você precisa saber de cara
Malformação capilar é uma condição rara caracterizada por vasos sanguíneos anormais, podendo causar hemangiomas, problemas cardiovasculares, polipose intestinal e déficits neurológicos. Afeta múltiplos órgãos e está associada a mutações em genes como GDF2 e GNA11.
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 74 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 173 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
9 genes identificados com associação a esta condição.
Potent circulating inhibitor of angiogenesis. Signals through the type I activin receptor ACVRL1 but not other Alks. Signaling through SMAD1 in endothelial cells requires TGF-beta coreceptor endoglin/ENG
Secreted
Telangiectasia, hereditary hemorrhagic, 5
A multisystemic vascular dysplasia leading to dilation of permanent blood vessels and arteriovenous malformations of skin, mucosa, and viscera. The disease is characterized by recurrent epistaxis and gastro-intestinal hemorrhage. Visceral involvement includes arteriovenous malformations of the lung, liver, and brain.
Guanine nucleotide-binding proteins (G proteins) function as transducers downstream of G protein-coupled receptors (GPCRs) in numerous signaling cascades (PubMed:31073061). The alpha chain contains the guanine nucleotide binding site and alternates between an active, GTP-bound state and an inactive, GDP-bound state (PubMed:31073061). Signaling by an activated GPCR promotes GDP release and GTP binding (PubMed:31073061). The alpha subunit has a low GTPase activity that converts bound GTP to GDP, t
Cell membraneCytoplasm
Hypocalciuric hypercalcemia, familial 2
A form of hypocalciuric hypercalcemia, a disorder of mineral homeostasis that is transmitted as an autosomal dominant trait with a high degree of penetrance. It is characterized biochemically by lifelong elevation of serum calcium concentrations and is associated with inappropriately low urinary calcium excretion and a normal or mildly elevated circulating parathyroid hormone level. Hypermagnesemia is typically present. Affected individuals are usually asymptomatic and the disorder is considered benign. However, chondrocalcinosis and pancreatitis occur in some adults.
Nucleus inner membrane
In muscle physiology, plays a central role in the balance between atrophy and hypertrophy. When recruited by MSTN, promotes atrophy response via phosphorylated SMAD2/4. MSTN decrease causes SMAD4 release and subsequent recruitment by the BMP pathway to promote hypertrophy via phosphorylated SMAD1/5/8. Acts synergistically with SMAD1 and YY1 in bone morphogenetic protein (BMP)-mediated cardiac-specific gene expression. Binds to SMAD binding elements (SBEs) (5'-GTCT/AGAC-3') within BMP response el
CytoplasmNucleus
Pancreatic cancer
A malignant neoplasm of the pancreas. Tumors can arise from both the exocrine and endocrine portions of the pancreas, but 95% of them develop from the exocrine portion, including the ductal epithelium, acinar cells, connective tissue, and lymphatic tissue.
Guanine nucleotide-binding proteins (G proteins) function as transducers downstream of G protein-coupled receptors (GPCRs) in numerous signaling cascades (PubMed:34556863, PubMed:35672283, PubMed:37991948). The alpha chain contains the guanine nucleotide binding site and alternates between an active, GTP-bound state and an inactive, GDP-bound state (PubMed:37991948). Signaling by an activated GPCR promotes GDP release and GTP binding (PubMed:37991948). The alpha subunit has a low GTPase activity
Cell membraneGolgi apparatusNucleusNucleus membrane
Capillary malformations, congenital
A form of vascular malformations that are present from birth, tend to grow with the individual, do not regress spontaneously, and show normal rates of endothelial cell turnover. Capillary malformations are distinct from capillary hemangiomas, which are highly proliferative lesions that appear shortly after birth and show rapid growth, slow involution, and endothelial hypercellularity.
Receptor tyrosine kinase which binds promiscuously transmembrane ephrin-B family ligands residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor is referred to as forward signaling while the signaling pathway downstream of the ephrin ligand is referred to as reverse signaling. Together with its cognate ligand/functional ligand EFNB2 it is involved in the regulation of cell adhesion and migration, an
Cell membrane
Lymphatic malformation 7
A form of primary lymphedema, a disease characterized by swelling of body parts due to developmental anomalies and functional defects of the lymphatic system. Patients with lymphedema may suffer from recurrent local infections. LMPHM7 is an autosomal dominant form with variable expressivity. Some individuals present with severe non-immune hydrops fetalis, which may cause perinatal demise or fully resolve after the neonatal period. Others present with no edema and have milder clinical features, such as atrial septal defect or varicose veins as adults.
GTPase-activating protein (GAP) that stimulates the intrinsic GTPase activity of Ras proteins, such as NRAS, facilitating their transition from the active GTP-bound state to the inactive GDP-bound state, thereby terminating Ras signaling
Cytoplasm
Vascular endothelium glycoprotein that plays an important role in the regulation of angiogenesis (PubMed:21737454, PubMed:23300529). Required for normal structure and integrity of adult vasculature (PubMed:7894484). Regulates the migration of vascular endothelial cells (PubMed:17540773). Required for normal extraembryonic angiogenesis and for embryonic heart development (By similarity). May regulate endothelial cell shape changes in response to blood flow, which drive vascular remodeling and est
Cell membrane
Telangiectasia, hereditary hemorrhagic, 1
A multisystemic vascular dysplasia leading to dilation of permanent blood vessels and arteriovenous malformations of skin, mucosa, and viscera. The disease is characterized by recurrent epistaxis and gastro-intestinal hemorrhage. Visceral involvement includes arteriovenous malformations of the lung, liver, and brain.
Type I receptor for TGF-beta family ligands BMP9/GDF2 and BMP10 and important regulator of normal blood vessel development. On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. May bind activin as well
Cell membrane
Telangiectasia, hereditary hemorrhagic, 2
A multisystemic vascular dysplasia leading to dilation of permanent blood vessels and arteriovenous malformations of skin, mucosa, and viscera. The disease is characterized by recurrent epistaxis and gastro-intestinal hemorrhage. Visceral involvement includes arteriovenous malformations of the lung, liver, and brain.
Medicamentos e terapias
Mecanismo: Beta-1 adrenergic receptor antagonist
Mecanismo: Plasminogen inhibitor
Mecanismo: Vascular endothelial growth factor A inhibitor
Mecanismo: Toll-like receptor 7 agonist
Mecanismo: Matrix metalloproteinase 8 inhibitor
Mecanismo: Somatostatin receptor agonist
Mecanismo: CRL4(CRBN) E3 ubiquitin ligase inhibitor
Mecanismo: Vascular endothelial growth factor receptor inhibitor
Mecanismo: Beta-1 adrenergic receptor antagonist
Mecanismo: Fibroblast growth factor receptor inhibitor
Variantes genéticas (ClinVar)
158 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
47 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 — Malformação capilar
Centros de Referência SUS
24 centros habilitados pelo SUS para Malformação capilar
Centros para Malformação capilar
Detalhes dos centros
Hospital Universitário Prof. Edgard Santos (HUPES)
R. Dr. Augusto Viana, s/n - Canela, Salvador - BA, 40110-060 · CNES 0003808
Serviço de Referência
Hospital Infantil Albert Sabin
R. Tertuliano Sales, 544 - Vila União, Fortaleza - CE, 60410-794 · CNES 2407876
Serviço de Referência
Hospital de Apoio de Brasília (HAB)
AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456
Serviço de Referência
Hospital Estadual Infantil e Maternidade Alzir Bernardino Alves (HIABA)
Av. Min. Salgado Filho, 918 - Soteco, Vila Velha - ES, 29106-010 · CNES 6631207
Serviço de Referência
Hospital das Clínicas da UFG
Rua 235 QD. 68 Lote Área, Nº 285, s/nº - Setor Leste Universitário, Goiânia - GO, 74605-050 · CNES 2338424
Serviço de Referência
Hospital Universitário da UFJF
R. Catulo Breviglieri, Bairro - s/n - Santa Catarina, Juiz de Fora - MG, 36036-110 · CNES 2297442
Atenção Especializada
Hospital das Clínicas da UFMG
Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167
Serviço de Referência
Hospital Universitário Julio Müller (HUJM)
R. Luis Philippe Pereira Leite, s/n - Alvorada, Cuiabá - MT, 78048-902 · CNES 2726092
Atenção Especializada
Hospital Universitário João de Barros Barreto
R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878
Serviço de Referência
Hospital Universitário Lauro Wanderley (HULW)
R. Tabeliao Estanislau Eloy, 585 - Castelo Branco, João Pessoa - PB, 58050-585 · CNES 0002470
Atenção Especializada
Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)
R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647
Serviço de Referência
Hospital Pequeno Príncipe
R. Des. Motta, 1070 - Água Verde, Curitiba - PR, 80250-060 · CNES 3143805
Serviço de Referência
Hospital Universitário Regional de Maringá (HUM)
Av. Mandacaru, 1590 - Parque das Laranjeiras, Maringá - PR, 87083-240 · CNES 2216108
Atenção Especializada
Hospital de Clínicas da UFPR
R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980
Serviço de Referência
Hospital Universitário Pedro Ernesto (HUPE-UERJ)
Blvd. 28 de Setembro, 77 - Vila Isabel, Rio de Janeiro - RJ, 20551-030 · CNES 2280221
Serviço de Referência
Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF/Fiocruz)
Av. Rui Barbosa, 716 - Flamengo, Rio de Janeiro - RJ, 22250-020 · CNES 2269988
Serviço de Referência
Hospital São Lucas da PUCRS
Av. Ipiranga, 6690 - Jardim Botânico, Porto Alegre - RS, 90610-000 · CNES 2232928
Serviço de Referência
Hospital de Clínicas de Porto Alegre (HCPA)
Rua Ramiro Barcelos, 2350 Bloco A - Av. Protásio Alves, 211 - Bloco B e C - Santa Cecília, Porto Alegre - RS, 90035-903 · CNES 2237601
Serviço de Referência
Hospital Universitário da UFSC (HU-UFSC)
R. Profa. Maria Flora Pausewang - Trindade, Florianópolis - SC, 88036-800 · CNES 2560356
Serviço de Referência
Hospital das Clínicas da FMUSP
R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485
Serviço de Referência
Hospital de Base de São José do Rio Preto
Av. Brg. Faria Lima, 5544 - Vila Sao Jose, São José do Rio Preto - SP, 15090-000 · CNES 2079798
Atenção Especializada
Hospital de Clínicas da UNICAMP
R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223
Serviço de Referência
Hospital de Clínicas de Ribeirão Preto (HCRP-USP)
R. Ten. Catão Roxo, 3900 - Vila Monte Alegre, Ribeirão Preto - SP, 14015-010 · CNES 2082187
Serviço de Referência
UNIFESP / Hospital São Paulo
R. Napoleão de Barros, 715 - Vila Clementino, São Paulo - SP, 04024-002 · CNES 2688689
Serviço de Referência
Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
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Publicações mais relevantes
Progressive non-immune hydrops fetalis associated with RASA1 mutation: prenatal imaging and genomic insights.
Hydrops fetalis (HF) is the pathological accumulation of fluid in two or more fetal compartments. While immune-mediated HF was historically predominant, non-immune hydrops fetalis (NIHF) is now increasingly common. Advances in genetic testing have revealed monogenic causes, including RASopathies (a group of genetic syndromes caused by dysregulation of the RAS-mitogen-activated protein kinase signalling pathway). We report a young primigravida, referred at 20+3 weeks for unilateral fetal pleural effusion. Serial ultrasound scans showed rapid progression to bilateral effusion, hepatomegaly, polyhydramnios and NIHF. First-trimester screening and non-invasive prenatal testing were low-risk, Toxoplasmosis, Other agents, Rubella, Cytomegalovirus, Herpes simplex serologies and PCR ruled out infection. Whole exome sequencing identified a likely pathogenic heterozygous frameshift mutation in the RASA1 gene (c.723dupT; p.Gly242TrpfsTer23), associated with capillary malformation-arteriovenous malformation type 1 (CM-AVM1). The mother had a subtle congenital capillary haemangioma on her left hand and revealed the same heterozygous variant of RASA1 gene, indicating variable expressibility. This case highlights the importance of considering rare monogenic causes like RASA1-related CM-AVM1 in NIHF, especially when early findings precede florid hydrops and classical RASopathy features are absent.
Cerebrovascular Malformations Associated With Hereditary Hemorrhagic Telangiectasia and HHT-Like Syndromes: A Comparative Overview.
Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular disorder marked by mucocutaneous telangiectasias, recurrent epistaxis, and visceral arteriovenous malformations (AVMs). Neurologic risks include brain AVMs and hemorrhagic stroke. Several rare genetic and sporadic syndromes ("HHT-like" syndromes) share overlapping vascular features, complicating diagnosis. Differentiating these conditions is essential for accurate neurovascular risk assessment. A comprehensive literature review (PubMed, Scopus, Embase, Google Scholar; 1990-2025) targeted cerebrovascular manifestations of HHT and related syndromes. Key entities included Wyburn-Mason syndrome, Cobb syndrome, Klippel-Trénaunay syndrome (KTS), neurofibromatosis type 1 (NF1), PHACE(S) syndrome, capillary malformation-AVM (CM-AVM), Parkes Weber syndrome (PWS), juvenile polyposis/HHT overlap (JP-HHT), HHT type 5 (BMP9/GDF2), PTEN hamartoma tumor syndrome (PHTS), and blue rubber bleb nevus syndrome (BRBNS). Data on gene variants, lesion types, neuroimaging, stroke risk, and neurologic outcomes were synthesized. High-flow cerebrovascular malformations similar to HHT are prominent in Wyburn-Mason syndrome, CM-AVM, and PWS, conferring a substantial hemorrhagic stroke risk. NF1 and PHACE(S) primarily feature occlusive arteriopathies linked to ischemic events. KTS, BRBNS, and PHTS predominantly show low- or mixed-flow anomalies with lower CNS hemorrhagic risk but increased thrombotic complications. JP-HHT carries added gastrointestinal cancer risk via SMAD4 variants, while HHT type 5 often presents incompletely. Genetic testing and tailored neuroimaging are critical for differentiation. Although many syndromes mimic HHT, few combine mucosal telangiectasias, high-flow AVMs, and recurrent hemorrhage. Integrating clinical, imaging, and genetic data enables precise diagnosis, risk stratification, and personalized management.
Clinical, Psychosocial, and Care Coordination Concerns in Macrocephaly Capillary Malformation Syndrome: Insights From a Large International Survey.
Macrocephaly capillary malformation syndrome (M-CM or MCAP) is a rare overgrowth disorder characterized by primary megalencephaly, overgrowth, and a range of additional anomalies. This report presents findings from a survey of 101 caregivers or individuals with M-CM, collected by the M-CM Network. Respondents shared medical and psychosocial concerns across the age spectrum, with common issues including motor delays, speech deficits, hydrocephalus, and vascular abnormalities. The survey highlighted significant developmental and behavioral challenges for individuals. The report advocates for continued research focused on the comprehensive needs of patients with M-CM.
Total hip replacement in Klippel-Trenaunay syndrome with massive AV Malformations. A Case report.
KTS, known as Klippel-Trenaunay syndrome, is a rare condition present at birth that includes a combination of capillary malformation, varicose veins, or venous malformation in the lower limbs, and excessive growth of bone and soft tissue. This report describes a female patient has 53-year-old suffering from Klippel-Trenaunay syndrome with arteriovenous malformations who underwent total hip arthroplasty surgery. The treatment included preoperative embolization, intraoperative angiography to place an iliac artery occlusive balloon, and the use of modular hip arthroplasty components to address femoral and acetabular dysplasia. In the case of patients with the syndrome (KT), all problems that the patient suffers from must be discussed with a team of specialists and experienced people, and they also, require a radiologic evaluation for malformations to determine the most suitable surgical approach and make the right decision about whether to operate or not, avoid failure, and obtain the best results.
Addressing Palliative Care Gaps for Rare Congenital Disease in Adults: CM-AVM2 as an Example.
Capillary malformation-arteriovenous malformation type 2 (CM-AVM2) is a rare vascular disorder marked by complex, progressive symptoms and limited treatment options. As more individuals with rare diseases reach adulthood, palliative care plays an essential role in supporting quality of life when disease-directed therapies begin to fail. We present a young adult male with EPHB4-positive CM-AVM2, transferred to our tertiary care center for progressive malnutrition, refractory diarrhea, and worsening abdominal pain despite extensive subspecialty care. His hospitalization was marked by escalating symptom burden, limited response to medical therapies, and increasing emotional distress for both patient and family. Palliative care was consulted to assist with pain control and symptom management, with initial reluctance for discussing goals of care (GOC). Through medication optimization, dynamic communication, and consistent interdisciplinary collaboration, the team helped stabilize aspects of his comfort and gradually facilitated GOC discussions. Our case emphasizes the value of integrating palliative care in rare disease management, particularly when longstanding treatments are refractory. We further discuss how palliative care in this setting differs from standard frameworks, requiring proactive use of disease-specific resources and protracted, anticipatory care planning to optimize quality of life.
Publicações recentes
Progressive non-immune hydrops fetalis associated with RASA1 mutation: prenatal imaging and genomic insights.
Cerebrovascular Malformations Associated With Hereditary Hemorrhagic Telangiectasia and HHT-Like Syndromes: A Comparative Overview.
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Total hip replacement in Klippel-Trenaunay syndrome with massive AV Malformations. A Case report.
📚 EuropePMCmostrando 156
Progressive non-immune hydrops fetalis associated with RASA1 mutation: prenatal imaging and genomic insights.
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Angiogenesis[Cutaneous capillary malformations with cerebral implementation].
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JNMA; journal of the Nepal Medical AssociationCapillary Malformation-arteriovenous Malformation Type 2: A Case Report and Review.
Acta dermato-venereologicaCoexistence of Neonatal Lupus Erythematous and Sturge-Weber Syndrome.
Case reports in dermatological medicineAutism spectrum disorder in a child with megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP).
BMJ case reportsCentral nervous system screening in capillary malformation-arteriovenous malformation syndrome: An observational study.
Journal of the American Academy of DermatologyHematoporphyrin monomethyl ether-mediated photodynamic therapy for phakomatosis pigmentovascularis type Ⅱ: A case report.
Photodiagnosis and photodynamic therapyVascular Birthmarks as a Clue for Complex and Syndromic Vascular Anomalies.
Frontiers in pediatricsA rare case of cerebral proliferative angiopathy with acute cerebral infarction and facial capillary malformation.
The neuroradiology journalA case of capillary malformation-arteriovenous malformation and Ebstein's anomaly in a child with EphB4 mutation.
Pediatric dermatologyA standard of care for individuals with PIK3CA-related disorders: An international expert consensus statement.
Clinical geneticsConservative management of knee arthropathy in a patient with Klippel Trenaunay syndrome.
Jornal vascular brasileiroMegalencephaly-capillary malformation syndrome and associated hydrocephalus: treatment options and revision of the literature.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryProteus Syndrome: A Rare Case in An Adult Ward.
European journal of case reports in internal medicineItchy Capillary Malformations: Unusual Appearance of Meyerson Phenomenon, a Case Series.
Pediatric reportsCoexistence of RASA1 and COL4A2 variants caused pial arteriovenous fistula (AVF) in a patient with capillary malformation-arteriovenous malformation.
Clinical neurology and neurosurgeryProgressive retinal vessel malformation in a premature infant with Sturge-Weber syndrome: a case report and a literature review of ocular manifestations in Sturge-Weber syndrome.
BMC ophthalmologyCapillary Malformation-Arteriovenous Malformation Syndrome.
CureusSirolimus Treatment in Sturge-Weber Syndrome.
Pediatric neurologyGingival Biopsy to Detect Mosaicism in Overgrowth Syndromes: Report of Two Cases of Megalencephaly-Capillary Malformation Syndrome with Periodontal Anomalies.
Case reports in dentistryIntroduction to phacomatoses (neurocutaneous disorders) in childhood.
Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery[Resistant epileptic encephalopathy in a child with microcephalic capillary malformation syndrome].
Zhurnal nevrologii i psikhiatrii imeni S.S. KorsakovaCapillary malformation-arteriovenous malformation syndrome: a multicentre study.
Clinical and experimental dermatologyDetailed analysis of phenotypes and genotypes in megalencephaly-capillary malformation-polymicrogyria syndrome caused by somatic mosaicism of PIK3CA mutations.
Orphanet journal of rare diseases[Neonatal capillary malformation-arteriovenous malformation complicated with acute heart failure: a case report and literature review].
Zhonghua er ke za zhi = Chinese journal of pediatricsLong-term follow-up of intracranial arteriovenous malformations with frontal capillary malformation (Wyburn-Mason syndrome or Bonnet-Dechaume-Blanc syndrome): three case reports.
International journal of dermatologyRecurrent Venous Thromboembolism in a Patient with Klippel-Trenaunay Syndrome Despite Adequate Anticoagulation with Warfarin.
CureusIntraneural hemangioma in Klippel-Trenaunay syndrome: role of musculo-skeletal ultrasound in diagnosis-case report and review of the literature.
Journal of ultrasoundOne of the First Cases with PIK3CA-related Overgrowth Spectrum (PROS) in Saudi Arabia: A Case Report and Literature Review.
CureusA PIK3CA mutation in an acquired capillary malformation.
Pediatric dermatologyCutis marmorata telangiectatica congenita: a literature review.
Orphanet journal of rare diseasesAtypical capillary malformations with subsequent diplegia: A difficult case of capillary malformation-arteriovenous malformation syndrome.
Pediatric dermatologyLower Extremity Skin Ulcer Associated With Neurofibromatosis Type 1: A Case Report.
Wounds : a compendium of clinical research and practiceKlippel-Trénaunay syndrome: a case report of a rare vascular disorder identified in a rural Canadian hospital.
Rural and remote healthOrthopaedic diagnoses in patients with Klippel-Trenaunay syndrome.
Journal of children's orthopaedicsClinical characteristics and treatment of 52 cases of phakomatosis pigmentovascularis.
The Journal of dermatologyNovel RASA1 mutations in Japanese pedigrees with capillary malformation-arteriovenous malformation.
Brain & developmentPhakomatosis Pigmentovascularis: A Clinical Profile of 11 Indian Patients.
Indian journal of dermatologyIdiopathic inflammatory myopathy comorbid with Sturge-Weber syndrome: a case report.
BMC neurologyAn Engorged Vein over the Lower Abdominal Wall.
The Journal of pediatricsExtracutaneous manifestations in phacomatosis cesioflammea and cesiomarmorata: Case series and literature review.
American journal of medical genetics. Part A[Arterial sinus pericranii. First case report].
Cirugia pediatrica : organo oficial de la Sociedad Espanola de Cirugia PediatricaA Pathogenic Homozygous Mutation in The Pleckstrin Homology Domain of RASA1 Is Responsible for Familial Tricuspid Atresia in An Iranian Consanguineous Family.
Cell journalAssociation of Somatic GNAQ Mutation With Capillary Malformations in a Case of Choroidal Hemangioma.
JAMA ophthalmologyClinical pitfalls in the diagnosis of segmental overgrowth syndromes: a child with the c.2740G > A mutation in PIK3CA gene.
Italian journal of pediatricsVerrucous hemangioma (also known as verrucous venous malformation): A vascular anomaly frequently misdiagnosed as a lymphatic malformation.
Pediatric dermatologyA female infant with phacomatosis pigmentovascularis and congenital chylous ascites: A case report.
MedicinePort-wine stain as a clue for two rare coexisting entities.
BMJ case reportsRAS signalling in energy metabolism and rare human diseases.
Biochimica et biophysica acta. BioenergeticsIn vitro efficacy of ARQ 092, an allosteric AKT inhibitor, on primary fibroblast cells derived from patients with PIK3CA-related overgrowth spectrum (PROS).
NeurogeneticsA child with Apert syndrome and Sturge-Weber syndrome: could fibronectin or the RAS/MAPK signaling pathway be the connection?
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryCLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype.
Genetics in medicine : official journal of the American College of Medical GeneticsHuman genetics and molecular mechanisms of vein of Galen malformation.
Journal of neurosurgery. PediatricsA cross-sectional survey of long-term outcomes for patients with diffuse capillary malformation with overgrowth.
Journal of the American Academy of DermatologyClinical and haemodynamic risk factors associated with discrepancies in lower limb length with capillary malformations: data from the national paediatric French cohort CONAPE.
The British journal of dermatologyWilms tumor screening in diffuse capillary malformation with overgrowth and macrocephaly-capillary malformation: A retrospective study.
Journal of the American Academy of DermatologySuccessful Treatment of Unilateral Klippel-Trenaunay Syndrome With Pulsed-Dye Laser in a 2-Week Old Infant.
Journal of lasers in medical sciencesThick Corpus Callosum in Children.
Journal of clinical neurology (Seoul, Korea)Proteus Syndrome with Arteriovenous Malformation.
Advanced biomedical researchMegalencephaly-capillary malformation-polymicrogyria syndrome: the first case report in Korea.
Korean journal of pediatricsKlippel Trenaunay Syndrome: A Case Report.
Mymensingh medical journal : MMJModeling RASopathies with Genetically Modified Mouse Models.
Methods in molecular biology (Clifton, N.J.)Somatic GNAQ Mutation is Enriched in Brain Endothelial Cells in Sturge-Weber Syndrome.
Pediatric neurologyA rare atypical rapidly involuting congenital hemangioma combined with vascular malformation in the upper limb.
World journal of surgical oncologyCombination of Sturge-Weber Syndrome and Trigonocephaly.
The Journal of craniofacial surgeryAbstracts from the 3rd International Genomic Medicine Conference (3rd IGMC 2015) : Jeddah, Kingdom of Saudi Arabia. 30 November - 3 December 2015.
BMC genomicsMegalencephaly-capillary malformation polymicrogyria: A review and complex pediatric case report.
Applied neuropsychology. ChildThe Fourth International Symposium on Genetic Disorders of the Ras/MAPK pathway.
American journal of medical genetics. Part AA spectrum of intracranial vascular high-flow arteriovenous shunts in RASA1 mutations.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryClinical Experience of the Klippel-Trenaunay Syndrome.
Archives of plastic surgeryUnusual cause of lower extremity wounds: Cobb syndrome.
International wound journalPHACE syndrome misdiagnosed as a port-wine stain.
BMJ case reportsMolecular and Functional Characterization of Three Different Postzygotic Mutations in PIK3CA-Related Overgrowth Spectrum (PROS) Patients: Effects on PI3K/AKT/mTOR Signaling and Sensitivity to PIK3 Inhibitors.
PloS onePhakomatosis pigmentovascularis presenting with sturge-weber syndrome and klippel-trenaunay syndrome.
Indian journal of dermatologyChallenges in the management of a rare case of extensive retroperitoneal haemangioma in a pregnant woman.
Singapore medical journalAssociações
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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.
- Progressive non-immune hydrops fetalis associated with RASA1 mutation: prenatal imaging and genomic insights.
- Cerebrovascular Malformations Associated With Hereditary Hemorrhagic Telangiectasia and HHT-Like Syndromes: A Comparative Overview.
- Clinical, Psychosocial, and Care Coordination Concerns in Macrocephaly Capillary Malformation Syndrome: Insights From a Large International Survey.
- Total hip replacement in Klippel-Trenaunay syndrome with massive AV Malformations. A Case report.
- Addressing Palliative Care Gaps for Rare Congenital Disease in Adults: CM-AVM2 as an Example.
- Hemodynamic and microvascular abnormalities in P450 oxidoreductase deficiency: evidence for COX-dependent dysfunction.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:211247(Orphanet)
- MONDO:0016231(MONDO)
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q56013802(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
