A Cutis Marmorata Telangiectática Congênita (CMTC) é uma alteração dos vasos sanguíneos presente desde o nascimento, que pode ser localizada (em uma parte do corpo) ou generalizada (espalhada por várias partes). Caracteriza-se por um padrão persistente de "pele marmorizada" – ou seja, a pele tem uma aparência manchada como mármore, com cores que vão do azulado ao roxo escuro. Há também vasinhos finos e avermelhados, parecidos com "teias de aranha", e veias mais dilatadas. Ocasionalmente, a pele afetada pode apresentar feridas e afinamento.
Introdução
O que você precisa saber de cara
A Cutis Marmorata Telangiectática Congênita (CMTC) é uma alteração dos vasos sanguíneos presente desde o nascimento, que pode ser localizada (em uma parte do corpo) ou generalizada (espalhada por várias partes). Caracteriza-se por um padrão persistente de "pele marmorizada" – ou seja, a pele tem uma aparência manchada como mármore, com cores que vão do azulado ao roxo escuro. Há também vasinhos finos e avermelhados, parecidos com "teias de aranha", e veias mais dilatadas. Ocasionalmente, a pele afetada pode apresentar feridas e afinamento.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Entender a doença
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 14 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 38 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
2 genes identificados com associação a esta condição. Padrão de herança: Not applicable.
Nucleus inner membrane
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.
Variantes genéticas (ClinVar)
61 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
11 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 — Cutis marmorata telangiectásica congênita
Centros de Referência SUS
24 centros habilitados pelo SUS para Cutis marmorata telangiectásica congênita
Centros para Cutis marmorata telangiectásica congênita
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.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Pesquisa e ensaios clínicos
Nenhum ensaio clínico registrado para esta condição.
Publicações mais relevantes
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.
Leg Length Discrepancy in Patients With Lower Extremity Cutis Marmorata Telangiectatica Congenita: A Multicenter Retrospective Study.
To assess the frequency of leg length discrepancy (LLD) in patients with lower extremity cutis marmorata telangiectatica congenita (CMTC), describe associated findings, and characterize LLD management. We conducted a retrospective chart review of patients diagnosed with lower extremity CMTC by dermatology and evaluated by orthopedics at Boston Children's Hospital and Children's Hospital of Philadelphia from 1997 to 2024. LLD was assessed by orthopedic examination and/or radiographic imaging. Major LLD was defined as ≥ 2 cm at any age, or between 1 and 2 cm in children 4 years old or younger. Mild LLD was defined as < 2 cm, except when ≥ 1 cm was present by age 4. Kaplan-Meier analysis estimated the probability of developing major LLD by age 15. Twenty-eight patients with lower extremity CMTC were included. LLD was identified in 12 of 28 patients (43%), including 8 confirmed radiographically and 4 diagnosed by clinical assessment alone. Two (7%) were classified as major and 10 (36%) as mild. Limb hypoplasia occurred in 18 of 28 patients (64%). Kaplan-Meier analysis estimated a 7.1% cumulative risk of major LLD by age 15. Three of 12 patients (25%) with LLD were prescribed shoe lifts. LLD is common among patients with lower extremity CMTC. Early orthopedic assessment may facilitate timely intervention.
Getting a Leg Up on Assessment of Cutis Marmorata Telangiectatica Congenita and Leg Length Discrepancy.
Case Report: A novel DLL4 variant in a neonate with Adams-Oliver syndrome.
Adams-Oliver syndrome is a rare congenital disorder with six subtypes that have been identified. Subtypes 1, 3, 5, and 6 have an autosomal dominant inheritance pattern, whereas subtypes 2 and 4 have an autosomal recessive inheritance pattern. The clinical phenotype of Adams-Oliver syndrome is heterogeneous and can be accompanied by abnormalities in other organs, especially the cardiovascular system, such as cutis marmorata telangiectatica congenita, pulmonary hypertension, vascular abnormalities in other organs, and congenital heart defects. Herein, we report a case of Adams-Oliver syndrome caused by a de novo variant in DLL4. The patient was a neonate with clinical manifestations of skin defects who was diagnosed with Adams-Oliver syndrome on the basis of genetic testing.
PIK3CA-Related Overgrowth Spectrum: Exploring brain growth from fetus to infant.
Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) is a rare neurological disorder characterized by abnormal brain size, vascular malformations, and body overgrowth. MCAP is caused by somatic mosaicism of PIK3CA, a crucial gene in regulation of cell growth and survival, and is one of the disorders in the PIK3CA-related overgrowth spectrum. We present a unique clinical report of a male infant diagnosed with MCAP from prenatal stages to age 12 months. Prenatal imaging unveiled ventricular asymmetry, later confirmed postnatally as megalencephaly. Genetic analysis identified a PIK3CA mutation. The patient underwent early interventions, including ventriculoperitoneal shunt placement and posterior fossa decompression. Despite early interventions, the patient developed progressive macrocrania, hydrocephalus, and significant neurodevelopmental delay. Multidisciplinary management and continuous neuroimaging were crucial in addressing complications associated with the disorder. This case underscores the critical need for multidisciplinary care and continual neuroimaging surveillance to effectively navigate the progressive complications associated with PIK3CA-related overgrowth spectrum. The diagnostic hurdles and management challenges intrinsic to the disorder's natural course are elucidated. Although current treatments manage symptoms, emerging therapies hold promise for improving patient outcomes.
Publicações recentes
Cutis marmorata telangiectatica congenita.
Getting a Leg Up on Assessment of Cutis Marmorata Telangiectatica Congenita and Leg Length Discrepancy.
Leg Length Discrepancy in Patients With Lower Extremity Cutis Marmorata Telangiectatica Congenita: A Multicenter Retrospective Study.
Clinical presentation, risk factors, and comorbidities of cutis marmorata telangiectatica congenita: a systematic review.
Cutis Marmorata Telangiectatica Congenita: Case Series and Literature Review.
📚 EuropePMC205 artigos no totalmostrando 100
Getting a Leg Up on Assessment of Cutis Marmorata Telangiectatica Congenita and Leg Length Discrepancy.
Pediatric dermatologyLeg Length Discrepancy in Patients With Lower Extremity Cutis Marmorata Telangiectatica Congenita: A Multicenter Retrospective Study.
Pediatric dermatologyClinical, Psychosocial, and Care Coordination Concerns in Macrocephaly Capillary Malformation Syndrome: Insights From a Large International Survey.
Pediatric blood & cancerClinical presentation, risk factors, and comorbidities of cutis marmorata telangiectatica congenita: a systematic review.
Pediatric researchCutis Marmorata Telangiectatica Congenita: Case Series and Literature Review.
Diagnostics (Basel, Switzerland)Cutaneous Features of Adams-Oliver Syndrome: Diagnosis, Differentiation, and Management.
Pediatric dermatologyAn infant with cutis marmorata telangiectatica congenita born to a mother with systemic lupus erythematosus.
Pediatrics international : official journal of the Japan Pediatric SocietyCapillary malformations updates on aetiopathogenesis, diagnosis, and management.
Presse medicale (Paris, France : 1983)Isolated Cutis Marmorata Telangiectatica Congenita in a Full-Term Neonate: A Case Report.
CureusCase Report: A novel DLL4 variant in a neonate with Adams-Oliver syndrome.
Frontiers in pediatrics[Glaucoma in cutis marmorata telangiectatica congenita syndrome].
Journal francais d'ophtalmologiePIK3CA-Related Overgrowth Spectrum: Exploring brain growth from fetus to infant.
Pediatric neurologyDefining the transcriptome of PIK3CA-altered cells in a human capillary malformation using single cell long-read sequencing.
Scientific reportsA Rare Case of Vascular Malformation in India: Cutis Marmorata Telangiectatica Congenita.
CureusAdams-Oliver syndrome associated with refractory glaucoma.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and StrabismusGeneralized cutis marmorata telangiectatica congenita or neonatal lupus? A case report and literature review.
Clinical case reportsRetinal abnormalities in a patient with cutis marmorata telangiectatica congenita.
BMJ case reportsOptical coherence tomography angiography in pediatric ocular cutis marmorata telangiectatica congenita: A case series.
American journal of ophthalmology case reportsNewborn with cutis marmorata telangiectatica congenita.
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Frontiers in pediatrics[Update on nevi and nevoid skin disorders].
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American journal of medical genetics. Part APrenatal diagnosis and delivery of megalencephaly-capillary malformation syndrome.
BMJ case reportsSurgical management of Chiari malformation type 1 associated to MCAP syndrome and study of cerebellar and adjacent tissues for PIK3CA mosaicism.
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Indian journal of dermatologyOcular Manifestations of Cutis Marmorata Telangiectatica Congenita.
Ophthalmology. Retina[Syndromes with vascular skin anomalies].
Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete[Adams-Oliver syndrome and cutis marmorata telangiectatica congenita].
Annales de dermatologie et de venereologieCutis marmorata telangiectatica congenita with skin ulceration: a rare benign skin vascular malformation.
BMJ case reportsCutis Marmorata Telangiectatica Congenita Presenting as a Fetal Hemothorax.
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CutisCutis mormorata telangiectatica congenital successfully treated with intense pulsed light therapy: A case report.
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Indian journal of dermatologyMegalencephaly-capillary malformation-polymicrogyria syndrome: the first case report in Korea.
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Genetic counseling (Geneva, Switzerland)Phacomatosis cesiomarmorata with hypospadias and phacomatosis cesioflammea with Sturge-Weber syndrome, Klippel-Trenaunay syndrome and aplasia of veins -- case reports with rare associations.
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Clinical dysmorphologyThe case of a boy with nevus of Ota, extensive Mongolian spot, nevus flammeus, nevus anemicus and cutis marmorata telangiectatica congenita: a unique instance of phacomatosis pigmentovascularis.
Anais brasileiros de dermatologiaRed-white and blue baby: a case of phacomatosis pigmentovascularis type V.
Dermatology online journalUnusual case of phakomatosis pigmentovascularis in a Japanese female infant associated with three phakomatoses: Port-wine stain, dermal melanocytosis and cutis marmorata telangiectatica congenita.
The Journal of dermatologyARL6IP6, a susceptibility locus for ischemic stroke, is mutated in a patient with syndromic Cutis Marmorata Telangiectatica Congenita.
Human geneticsCapillary malformations: a classification using specific names for specific skin disorders.
Journal of the European Academy of Dermatology and Venereology : JEADV[Cutis marmorata telangiectatica congenita revealing neonatal lupus].
The Pan African medical journalCutis marmorata telangiectatica congenita in a preterm female newborn: case report and review of the literature.
La Pediatria medica e chirurgica : Medical and surgical pediatricsAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
Ainda não temos associações cadastradas para Cutis marmorata telangiectásica congênita.
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Comunidades
Grupos ativos de quem convive com esta doença aqui no Raras
Ainda não existe comunidade no Raras para Cutis marmorata telangiectásica congênita
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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.
- Clinical, Psychosocial, and Care Coordination Concerns in Macrocephaly Capillary Malformation Syndrome: Insights From a Large International Survey.
- Leg Length Discrepancy in Patients With Lower Extremity Cutis Marmorata Telangiectatica Congenita: A Multicenter Retrospective Study.
- Getting a Leg Up on Assessment of Cutis Marmorata Telangiectatica Congenita and Leg Length Discrepancy.
- Case Report: A novel DLL4 variant in a neonate with Adams-Oliver syndrome.
- PIK3CA-Related Overgrowth Spectrum: Exploring brain growth from fetus to infant.
- Cutis marmorata telangiectatica congenita.
- Clinical presentation, risk factors, and comorbidities of cutis marmorata telangiectatica congenita: a systematic review.
- Cutis Marmorata Telangiectatica Congenita: Case Series and Literature Review.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:1556(Orphanet)
- OMIM OMIM:219250(OMIM)
- MONDO:0009055(MONDO)
- GARD:6228(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q1997180(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
