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Doença de von Hippel-Lindau
ORPHA:892CID-10 · Q85.8CID-11 · 5A75OMIM 193300DOENÇA RARA
Esta doença tem causa genética. Recomendamos procurar um médico geneticista para diagnóstico, exames genéticos e aconselhamento familiar.
Visão / ocularInício infantilHerança AD
Também conhecida comoSíndrome de von Hippel-LindauVon Hippel e LindauVHL

Doença autossômica dominante causada por variantes patogênicas no gene VHL, levando a um risco aumentado de vários tumores benignos e malignos, incluindo hemangioblastomas, hemangiomas retinais, tumores do saco endolinfático, carcinoma de células renais e feocromocitomas.

Última verificação: Fonte: sem afirmação sobre o SUS a verificarEm construçãohistóricoSugerir correção
Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

💬
EM LINGUAGEM SIMPLES

A síndrome de von Hippel-Lindau é um distúrbio hereditário caracterizado pela formação de tumores e sacos preenchidos por líquido (cistos) em muitas partes diferentes do corpo. Os tumores podem ser não cancerosos ou cancerosos e geralmente aparecem durante a idade adulta jovem; porém, os sinais e sintomas da síndrome de von Hippel-Lindau podem ocorrer ao longo da vida.

Tumores chamados hemangioblastomas são característicos da síndrome de von Hippel-Lindau. Esses crescimentos são constituídos por vasos sanguíneos recém-formados. Embora tipicamente sejam não cancerosos, podem causar complicações graves ou que ameaçam a vida. Hemangioblastomas que se desenvolvem no cérebro e na medula espinhal podem causar dores de cabeça, vômitos, fraqueza e perda de coordenação muscular (ataxia). Hemangioblastomas também podem ocorrer no tecido sensível à luz que reveste a parte posterior do olho (a retina). Esses tumores, que também são chamados de angiomas retinianos, podem causar perda de visão.

Pessoas com a síndrome de von Hippel-Lindau costumam desenvolver cistos nos rins, pâncreas e trato genital. Elas também têm risco aumentado de desenvolver um tipo de câncer renal chamado carcinoma de células claras e um tipo de câncer pancreático chamado tumor neuroendócrino pancreático.

A síndrome de von Hippel-Lindau está associada a um tipo de tumor chamado feocromocitoma, que ocorre mais frequentemente nas glândulas adrenais (pequenas glândulas produtoras de hormônios localizadas acima de cada rim). Feocromocitomas geralmente são não cancerosos. Eles podem não causar sintomas, mas em alguns casos estão associados a dores de cabeça, ataques de pânico, sudorese excessiva ou pressão arterial perigosamente alta que pode não responder a medicação. Feocromocitomas são particularmente perigosos em momentos de estresse ou trauma, como durante uma cirurgia, em um acidente ou durante a gravidez.

Cerca de 10 por cento das pessoas com a síndrome de von Hippel-Lindau desenvolvem tumores do saco endolinfático, que são tumores não cancerosos no ouvido interno. Esses crescimentos podem causar perda auditiva em um ou ambos os ouvidos, bem como zumbido (tinnitus) e problemas de equilíbrio. Sem tratamento, esses tumores podem causar surdez profunda súbita.

Tumores não cancerosos também podem se desenvolver no fígado e nos pulmões em pessoas com a síndrome de von Hippel-Lindau. Esses tumores não parecem causar quaisquer sinais ou sintomas.

Fonte: MedlinePlus Genetics (NLM/NIH), traduzido
📋
Informacoes curadas por IA — podem conter imprecisoes

Doença autossômica dominante causada por variantes patogênicas no gene VHL, levando a um risco aumentado de vários tumores benignos e malignos, incluindo hemangioblastomas, hemangiomas retinais, tumores do saco endolinfático, carcinoma de células renais e feocromocitomas.

Pesquisas ativas
21 ensaios
55 total registrados no ClinicalTrials.gov
Publicações científicas
2.435 artigos
Último publicado: 2026 Apr 13
Em pesquisa
6 moléculas
BELZUTIFAN, VATALANIB, PAZOPANIB HYDROCHLORIDE

O que está sendo pesquisado

6 moléculas em estudo — nenhuma com registro para esta doença
Ver detalhes e fases →
BELZUTIFANVATALANIBPAZOPANIB HYDROCHLORIDEPAZOPANIBDOVITINIBSUNITINIB
Aparecer aqui significa que a molécula foi estudada nesta doença, não que trate. Converse com seu médico.

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
1-9 / 100 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
1.1
United Kingdom
Início
Adolescent
+ adult, childhood
🏥
SUS: Cobertura mínimaScore: 15%
5 procedimentos SIGTAPCID-10: Q85.8
🇧🇷Dados SUS / DATASUS
EXAMES E PROCEDIMENTOS RELACIONADOS (5)
•
Cariótipo — bandas G, Q ou R
•
Pesquisa de microdeleções/microduplicações por FISH
•
Sequenciamento completo do exoma (WES)
•
Dosagem de alfa-fetoproteína
•
Atendimento em reabilitação — doenças raras
Você se identifica com essa condição?
O Raras está aqui pra te apoiar — com ou sem diagnóstico

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Entender a doença

Do básico ao detalhe, leia no seu ritmo

Preparando trilha educativa...

Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

👁️
Olhos
6 sintomas
❤️
Coração
5 sintomas
🫃
Digestivo
5 sintomas
🫘
Rins
4 sintomas
🧠
Neurológico
2 sintomas
💪
Músculos
2 sintomas

+ 18 sintomas em outras categorias

Características mais comuns

97%prev.
Deficiência auditiva neurossensorial
Frequência: 34/35
90%prev.
Anormalidade do olho
Muito frequente (99-80%)
77%prev.
Zumbido
Frequência: 27/35
69%prev.
Vertigem
Ocasional (29-5%)
55%prev.
Carcinoma de células renais
Frequente (79-30%)
55%prev.
Hemangioblastoma cerebelar
Frequente (79-30%)
49sintomas
Muito frequente (2)
Frequente (8)
Ocasional (25)
Muito raro (8)
Sem dados (6)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 49 características clínicas mais associadas, ordenadas por frequência.

Deficiência auditiva neurossensorialSensorineural hearing impairment
Frequência: 34/3597%
Anormalidade do olhoAbnormality of the eye
Muito frequente (99-80%)90%
ZumbidoTinnitus
Frequência: 27/3577%
VertigemVertigo
Ocasional (29-5%)69%
Carcinoma de células renaisRenal cell carcinoma
Frequente (79-30%)55%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico2.435PubMed
Últimos 10 anos200publicações
Pico2025125 papers
Linha do tempo
2026Hoje · 2026🧪 1997Primeiro ensaio clínico📈 2025Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

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: Autosomal dominant.

Curadoria gene-doença

fontes oficiais
VHL
VHL
VHLvon Hippel-Lindau disease tumor suppressorDisease-causing germline mutation(s) inTolerante
VIAS BIOLÓGICAS (6)
Antigen processing: Ubiquitination & Proteasome degradationOxygen-dependent proline hydroxylation of Hypoxia-inducible Factor AlphaNeddylationReplication of the SARS-CoV-1 genomeReplication of the SARS-CoV-2 genome
MECANISMO DE DOENÇA

Pheochromocytoma

A catecholamine-producing tumor of chromaffin tissue of the adrenal medulla or sympathetic paraganglia. The cardinal symptom, reflecting the increased secretion of epinephrine and norepinephrine, is hypertension, which may be persistent or intermittent.

EXPRESSÃO TECIDUAL(Ubíquo)
Linfócitos
47.6 TPM
Fibroblastos
30.1 TPM
Cérebro - Hemisfério cerebelar
29.8 TPM
Baço
24.1 TPM
Cervix Endocervix
22.7 TPM
OUTRAS DOENÇAS (6)
pheochromocytomavon Hippel-Lindau diseasenonpapillary renal cell carcinomaChuvash polycythemia
HGNC:12687UniProt:P40337
CCND1G1/S-specific cyclin-D1Modifying germline mutation inRestrito
VIAS BIOLÓGICAS (9)
Cyclin D associated events in G1PTK6 Regulates Cell CycleSCF(Skp2)-mediated degradation of p27/p21SPOP-mediated proteasomal degradation of PD-L1(CD274)Transcriptional Regulation by VENTX
OUTRAS DOENÇAS (5)
B-cell chronic lymphocytic leukemiaplasma cell myelomavon Hippel-Lindau diseasemantle cell lymphoma
HGNC:1582UniProt:P24385

Medicamentos e terapias

BELZUTIFANPhase 4

Mecanismo: Endothelial PAS domain-containing protein 1 inhibitor

VATALANIBPhase 2

Mecanismo: Vascular endothelial growth factor receptor inhibitor

PAZOPANIB HYDROCHLORIDEPhase 2

Mecanismo: Vascular endothelial growth factor receptor inhibitor

PAZOPANIBPhase 2

Mecanismo: Vascular endothelial growth factor receptor inhibitor

DOVITINIBPhase 2

Mecanismo: Fibroblast growth factor receptor 3 inhibitor

SUNITINIBPhase 2

Mecanismo: Vascular endothelial growth factor receptor inhibitor

Ver mais no OpenTargets

Variantes genéticas (ClinVar)

760 variantes patogênicas registradas no ClinVar.

🧬 CCND1: GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3 ()
🧬 CCND1: NC_000011.9:g.(?_64973914)_(70052579_?)dup ()
🧬 CCND1: GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3 ()
🧬 CCND1: GRCh37/hg19 11q13.3-13.4(chr11:69214835-70821137)x1 ()
🧬 CCND1: Single allele ()
Ver todas no ClinVar

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
✓Aprovado1
3Fase 31
2Fase 226
1Fase 18
·Pré-clínico25
Medicamentos catalogadosEnsaios clínicos· 6 medicamentos · 55 ensaios
✓ Aprovados — podem ser usados hoje
BELZUTIFAN
Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Doença de von Hippel-Lindau

🗺️

Selecione um estado ou use sua localização para ver resultados.

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

Onde estão os ensaios

Com ensaio aberto em 26 países. O ponto verde marca onde há vaga agora.

🟢 Recrutando agora

14 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.

NCT07405164 · Extension Study for Participants in Studies That Include Bel…Recrutando
PHASE3🇧🇷 Brasil · 🇦🇺 Austrália · 🇧🇪 Bélgica +19
NCT07167329 · Real-World Effectiveness and Pharmacogenetics of Belzutifan …Recrutando
PHASE2🇧🇷 Brasil
NCT07557225 · 18F-T2 PET/CT Imaging for CAIX Positive Solid TumorsRecrutando
NA🇨🇳 China
NCT07171905 · CAT-VHL Exploring the Role of Carbonic Anhydrase IX as Diagn…Recrutando
PHASE2🇮🇹 Itália
NCT06553339 · A Study of HS-10516 in Patients With VHL Syndrome Associated…Recrutando
PHASE1🇨🇳 China
NCT05955014 · Data Collection Protocol for Patients With Von Hippel Lindau…Recrutando
🇺🇸 Estados Unidos
NCT06194669 · Mechanisms of Somatic Mutation and Tumor Initiation in Pre-m…Recrutando
🇮🇹 Itália
NCT05424016 · Propranolol and Von Hippel-Lindau DiseaseRecrutando
NA🇫🇷 França
NCT04924075 · Belzutifan/MK-6482 for the Treatment of Advanced Pheochromoc…Recrutando
PHASE2🇦🇺 Austrália · 🇨🇦 Canadá · 🇨🇱 Chile +19
NCT04074135 · Natural History and Management of Von Hippel-Lindau (VHL) As…Recrutando
PHASE2🇺🇸 Estados Unidos
NCT01496625 · National Eye Institute Biorepository for Retinal DiseasesRecrutando
🇺🇸 Estados Unidos
NCT03749980 · MyVHL: Patient Natural History StudyRecrutando
🇺🇸 Estados Unidos
NCT02420067 · Screening for Endolymphatic Sac Tumours (ELSTs) in Von Hippe…Recrutando
🇩🇰 Dinamarca
NCT00102544 · Use of Tracking Devices to Locate Abnormalities During Invas…Por convite
NA🇺🇸 Estados Unidos

Outros ensaios clínicos

55 ensaios clínicos encontrados, 21 ativos.

Distribuição por fase
NCT07705529 · Pediatric Von Hippel-Lindau Disease: Natural History, Predic…Em breve
🇫🇷 França
NCT07554508 · Belzutifan VHL RCC HK Prospective RegistryEm breve
Hong Kong
NCT07275099 · Quality of Life, Psychological Impact, and Care-related Chal…Ativo
🇮🇹 Itália
NCT05737602 · Promoting Stress Management and Resilience Among Individuals…Ativo
NA🇺🇸 Estados Unidos
NCT06195150 · Overtaking Intra and Inter Tumoral Heterogeneity In Von Hipp…Ativo
🇮🇹 Itália
NCT03401788 · A Phase 2 Study of Belzutifan (PT2977, MK-6482) for the Trea…Ativo
PHASE2🇩🇰 Dinamarca · 🇫🇷 França · 🇬🇧 Reino Unido +1
NCT00005902 · Study of Brain and Spinal Cord Tumor Growth and Cyst Develop…Ativo
🇺🇸 Estados Unidos
NCT04458935 · Retrospective Case Series of Trans-scleral Cryotherapy for R…Concluído
🇺🇸 Estados Unidos
NCT03907657 · Contrast-enhanced Ultrasound as a Screening Tool for Kidney …Concluído
PHASE2🇺🇸 Estados Unidos
NCT03108066 · MK-3795 (PT2385) for the Treatment of Von Hippel-Lindau Dise…Concluído
PHASE2🇺🇸 Estados Unidos
NCT02859441 · A Phase I/II Trial for Intravitreous Treatment of Severe Ocu…Concluído
PHASE1, PHASE2🇺🇸 Estados Unidos
NCT02108002 · Effect of Vorinostat on Nervous System Hemangioblastomas in …Concluído
PHASE1🇺🇸 Estados Unidos
NCT01967537 · Evaluation of 68Gallium-DOTATATE PET/CT for Detecting Neuroe…Concluído
PHASE2🇺🇸 Estados Unidos
NCT01436227 · Pazopanib Hydrochloride in Treating Patients With Von Hippel…Concluído
PHASE2🇺🇸 Estados Unidos
NCT01168440 · Study of Sunitinib in Patients With Von Hippel-Lindau (VHL) …Concluído
PHASE2🇫🇷 França
NCT00970970 · Visualizing Vascular Endothelial Growth Factor (VEGF) Produc…Concluído
🇳🇱 Países Baixos
NCT00566995 · Phase II Study of Vandetanib in Individuals With Kidney Canc…Concluído
PHASE2🇺🇸 Estados Unidos
NCT00470977 · Treatment of Exudative and Vasogenic Chorioretinal Diseases …Concluído
PHASE1, PHASE2🇺🇸 Estados Unidos
NCT00385333 · Metabolic Mapping to Measure Retinal MetabolismConcluído
PHASE2🇺🇸 Estados Unidos
NCT00089765 · Ranibizumab Injections to Treat Retinal Tumors in Patients W…Concluído
PHASE1🇺🇸 Estados Unidos
NCT00088374 · 17AAG to Treat Kidney Tumors in Von Hippel-Lindau DiseaseConcluído
PHASE2🇺🇸 Estados Unidos
NCT00075348 · Genetic Study to Identify Gene Mutations in Participants Pre…Concluído
🇺🇸 Estados Unidos
NCT00062166 · Natural History and Management of Pancreatic Lesions in Von …Concluído
🇺🇸 Estados Unidos
NCT00056199 · EYE001 to Treat Retinal Tumors in Patients With Von Hippel-L…Concluído
PHASE1🇺🇸 Estados Unidos
NCT00052013 · Treatment of Von Hippel-Lindau (VHL)-Related Hemangioblastom…Concluído
PHASE2🇺🇸 Estados Unidos
NCT07327164 · Precision Medicine for Neurocutaneous Syndromes in Western C…Concluído
🇨🇳 China
NCT00001668 · Endolymphatic Sac Tumors in a Population of Patients With Vo…Concluído
🇺🇸 Estados Unidos
NCT06391879 · Establishment of a Multidimensional Prediction Model for the…UNKNOWN
🇨🇳 China
NCT05810246 · 68Ga-NY104 PET/CT in Von Hippel-Lindau DiseaseUNKNOWN
PHASE2🇨🇳 China
NCT05843305 · A Study of BPI-452080 in Subjects With Solid TumorsUNKNOWN
PHASE1🇨🇳 China
NCT05534854 · Frequency, Clinical Phenotype and Genetic Analysis of Herita…UNKNOWN
🇨🇳 China
NCT03979833 · Drivers of Hypoxia-induced Angiogenesis in Tumor DevelopmentUNKNOWN
🇩🇰 Dinamarca
NCT05563272 · 89Zr-girentuximab for PET Imaging of CAIX Positive Solid Tum…Encerrado
PHASE2🇺🇸 Estados Unidos
NCT04895748 · DFF332 as a Single Agent and in Combination With Everolimus …Encerrado
PHASE1🇨🇿 Tchéquia · 🇫🇷 França · 🇮🇹 Itália +4
NCT03001349 · 68Ga-DOTA-TOC PET/CT in Imaging Participants With Neuroendoc…Encerrado
EARLY_PHASE1🇺🇸 Estados Unidos
NCT01266070 · TKI 258 in Von Hippel-Lindau Syndrome (VHL)Encerrado
PHASE2🇺🇸 Estados Unidos
NCT01015300 · Bevacizumab (Avastin) in Unresectable/Recurrent Hemangioblas…Encerrado
EARLY_PHASE1🇺🇸 Estados Unidos
NCT00673816 · Sunitinib Malate to Treat Advanced Eye Disease in Patients W…Encerrado
PHASE1, PHASE2🇺🇸 Estados Unidos
NCT00330564 · Evaluation of Sunitinib Malate in Patients With Von Hippel-L…Encerrado
PHASE2🇺🇸 Estados Unidos
NCT00001803 · Von Hippel-Lindau Disease Genetic Epidemiology StudyEncerrado
🇺🇸 Estados Unidos
NCT06554730 · MSD Belzutifan PASCancelado
Ver todos no ClinicalTrials.gov
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Publicações mais relevantes

🥈Melhor nível de evidência: Ensaio clínico
Timeline de publicações
842 papers (10 anos)

Mostrando amostra de 200 publicações de um total de 842

#1

Whole-Genome Landscape of Retinal Hemangioblastomas.

Translational vision science &amp; technology2026 Jan 05

Retinal hemangioblastomas (RHs) are rare benign vascular tumors that present mostly as manifestations of Von Hippel-Lindau (VHL) syndrome. In contrast to other VHL syndrome-associated tumors, only a handful of molecular studies have been published on RHs. It remains unclear whether VHL alterations alone drive RH tumorigenesis. Whole-genome sequencing (WGS) was performed on germline- and RHs-derived DNA of five patients. Additionally, transcriptomes of four unaffected retinas and five choroid controls were compared with those of RH biopsies. Heterozygous germline missense variants and copy number losses impacting VHL were identified. In all RH biopsies, mosaic loss of chromosome 3 was present, indicating the "second hit" in RHs is likely loss of the complete wild-type chromosome 3. Few additional somatic short nucleotide variants (SNVs) indels, or structural variants with deleterious potential were detected, suggesting that somatic changes are rare but not limited to the VHL gene region. RNA sequencing revealed reduced VHL expression in tumor tissue and downstream gene expression changes consistent with loss of VHL expression. RHs have few somatic changes. Loss of chromosome 3 is likely the second hit in RHs with germline VHL alterations. RHs are benign neoplasms with little somatic changes compared with other VHL-syndrome associated tumors. Variants affecting VHL impact downstream gene expression, variants impacting different VHL domains result in differential gene expression of these downstream targets. RNA sequencing may aid in the evaluation of variants of unknown significance.

#2

Psychosocial Outcomes in Patients With Endocrine Tumor Syndromes: A Systematic Review.

Pediatric blood &amp; cancer2026 Mar

The combination of disease manifestations, the familial burden, and varying penetrance of endocrine tumor syndromes (ETSs) is unique. This review aimed to portray and summarize available data on psychosocial outcomes in patients with ETSs and explore gaps and opportunities for future research and care. Literature was systematically searched for articles on psychosocial outcomes in patients with multiple endocrine neoplasia (MEN), von Hippel-Lindau (VHL), and pathogenic variants (PVs) in succinate dehydrogenase (SDHx) genes via PubMed, PsychInfo, and Embase. Study quality was assessed using the CASP and STROBE appraisal tools. In total, 36 studies were found with fluctuating levels of evidence, of which five included pediatric patients. Overall, studies showed a considerable impact of ETSs on psychosocial outcomes such as quality of life (QoL), anxiety, and depression. Maladaptive coping, as well as social and financial restraints, were associated with poorer psychosocial outcomes. Surveillance protocols had ambivalent effects, both creating a sense of control and serving as a constant reminder of having an ETS. Parathyroid disease was associated with adverse psychosocial effects in MEN1. In MEN2A, gastrointestinal symptoms and having affected offspring were associated with poorer psychosocial outcomes. In MEN2B, pain was reported to interfere with daily life. Studies regarding VHL reported a wide range of experiences in patients and family members. Only a few studies were found for patients with PVs in SDHx genes, mainly describing effects due to the manifestation of disease or paraganglioma. Psychosocial outcomes and possible underlying factors seem different for each ETS. More research is needed to address psychosocial outcomes in children with an ETS.

#3

Pancreatic Involvement in von Hippel Lindau Disease: A Single-Center Experience.

JGH open : an open access journal of gastroenterology and hepatology2026 Feb
#4

Somatic mutational landscape in von Hippel-Lindau familial hemangioblastoma.

Molecular oncology2026 Mar 23

Von Hippel-Lindau disease (vHL) predisposes to tumor development, mainly clear cell renal carcinoma and hemangioblastoma. The underlying cause is germline variants in the VHL gene, with tumorigenesis thought to require additional somatic 'second-hit' events that most commonly include loss of 3p. However, the precise mechanisms of vHL-related tumor development remain incompletely understood. Genomic investigations of familial hemangioblastoma may help elucidate the early steps of tumorigenesis and contribute to improved disease prediction, biomarker discovery, and therapeutic strategies. We performed whole exome sequencing on 22 familial hemangioblastomas from 7 patients representing 5 unrelated families, and with 4 different causative VHL genotypes. The tumors exhibited low overall mutational burden but showed frequent loss of heterozygosity on chromosome 3 or 3p and single nucleotide variants in the VHL region. Variants were significantly enriched in genes associated with GABAergic and serotonergic neuronal cell types, as well as in pathways regulating cell cycle and neurogenesis. These findings suggest that, in addition to VHL loss, dysregulation of neuronal differentiation programs and cell cycle control may play important roles in hemangioblastoma tumorigenesis.

#5

[Calcinosis cutis in a hemodialysis patient with Von Hippel-Lindau disease].

Nephrologie &amp; therapeutique2026 Mar 11

We report the case of a 52-year-old man with Von Hippel-Lindau disease who had been receiving nocturnal home hemodialysis for ten months following bilateral nephrectomy for multifocal clear cell renal carcinoma. He presented with a firm, painless subcutaneous nodule on the right anterior thigh, featuring a central crater filled with chalky-white material. Skin biopsy revealed dermal calcium deposits surrounded by a fibrous and histiocytic reaction, consistent with dystrophic calcinosis cutis. Additional nodules were palpable on the left calf and right biceps. Bilateral femur X-rays were normal. Persistent hyperphosphatemia and inadequate dialysis likely contributed to the development of these extraosseous calcifications. Management included intensification of phosphate binder therapy and increased dialysis frequency. This case illustrates the potential interplay between hereditary tumor syndromes and dialysis-related mineral metabolism disorders, highlighting the risk of severe extraosseous calcifications in such patients. Nous rapportons le cas d’un homme de 52 ans atteint de la maladie de Von Hippel-Lindau, traité par hémodialyse nocturne à domicile depuis dix mois, après néphrectomie bilatérale pour carcinome rénal à cellules claires multifocal. Il signale l’apparition d’un nodule sous-cutané ferme et indolore de la cuisse droite, avec un cratère central rempli de matériel blanchâtre. La biopsie cutanée a révélé des dépôts calciques dermiques entourés d’une réaction fibreuse et histiocytaire, compatible avec une calcinose cutanée dystrophique. D’autres nodules suspects étaient palpables sur le mollet gauche et le biceps droit. La radiographie des fémurs était normale. L’hyperphosphatémie persistante et un contexte de dialyse insuffisante ont probablement contribué à la survenue de ces calcifications extra-osseuses. L’intensification du traitement chélateur du phosphate et une augmentation de la fréquence des séances d’hémodialyse ont été mises en œuvre. Ce cas illustre l’interaction potentielle entre pathologies tumorales héréditaires et troubles phosphocalciques liés à la dialyse.

Publicações recentes

Ver todas no PubMed

📚 EuropePMC1.449 artigos no totalmostrando 196

2026

Somatic mutational landscape in von Hippel-Lindau familial hemangioblastoma.

Molecular oncology
2026

[Calcinosis cutis in a hemodialysis patient with Von Hippel-Lindau disease].

Nephrologie &amp; therapeutique
2026

Neurogenetic tumor syndromes: The current landscape of workup and treatment.

Neuro-oncology practice
2026

"I don't think I even thought of myself" A mixed-methods study of family experiences of trio germline whole genome sequencing in newly diagnosed childhood cancer.

British journal of cancer
2026

Bilateral multifocal renal neuroendocrine carcinoma with synchronous pancreatic neuroendocrine carcinoma and adrenal lesion.

Journal of surgical case reports
2026

Pancreatic Involvement in von Hippel Lindau Disease: A Single-Center Experience.

JGH open : an open access journal of gastroenterology and hepatology
2026

Cancer predisposition syndromes: an imaging review.

Cancer imaging : the official publication of the International Cancer Imaging Society
2026

5' UTR length regulates alternative N-terminal protein isoform production in health and disease.

bioRxiv : the preprint server for biology
2025

[A Family case of von Hippel-Lindau syndrome].

Problemy endokrinologii
2026

Persistent Hypercalcemia: Diagnostic Complexity With Multiglandular Hyperparathyroidism, Renal Cell Carcinoma, and Hereditary Tumor Features.

Cureus
2026

Hereditary Renal Cancer Syndromes: Clinicopathologic Features and Correlation With Tumors Harboring Somatic Mutations.

Advances in anatomic pathology
2026

Exploring the Illness Experience of Patients with Central Nervous System Hemangioblastomas in Von Hippel-Lindau Disease: A Qualitative Study.

Healthcare (Basel, Switzerland)
2026

Bilateral pheochromocytomas with locally advanced right adrenal tumor extending into the inferior vena cava in a suspected Von Hippel-Lindau syndrome: A case report.

Urology case reports
2026

First-in-class HIF-2α therapy in genitourinary oncology: Belzutifan from von Hippel-Lindau disease to advanced renal cell carcinoma.

Cancer chemotherapy and pharmacology
2026

Whole-Genome Landscape of Retinal Hemangioblastomas.

Translational vision science &amp; technology
2026

Expanding the clinical tumor phenotype of the EPAS1-asssociated tumor syndrome.

The Journal of clinical endocrinology and metabolism
2026

Hereditary renal cell carcinoma surveillance protocols: a review of the literature and proposed recommendations.

Familial cancer
2026

Distinct genomic, microenvironmental, and nephron signatures in VHL kidney cysts and tumors.

Scientific reports
2026

The European medicines agency review of belzutifan (Welireg) for the treatment of adult patients with von Hippel-Lindau disease-associated tumors.

The oncologist
2026

Psychosocial Outcomes in Patients With Endocrine Tumor Syndromes: A Systematic Review.

Pediatric blood &amp; cancer
2025

Role of Targeted Therapy in the Management of von Hippel-Lindau Disease-Associated Renal Cell Carcinoma: A Single-Proportion Meta-Analysis.

Cureus
2025

[Chinese expert consensus for the diagnosis and treatment of von Hippel-Lindau syndrome (2025 edition)].

Zhonghua yi xue za zhi
2025

Precision Care for Hereditary Urologic Cancers: Genetic Testing, Counseling, Surveillance, and Therapeutic Implications.

Current oncology (Toronto, Ont.)
2025

Integrating whole-exome sequencing and scRNA-seq reveal the characteristic in one clear cell renal cell carcinoma sample arising in the setting of VHL disease.

Scientific reports
2025

Anesthetic Management of a Cesarean Section in a Parturient With Von Hippel-Lindau Disease.

Cureus
2025

Belzutifan for Ocular Tumors in Patients with von Hippel-Lindau Disease.

Ocular oncology and pathology
2025

Prognostic relevance of MIB-1 labeling index in VHL-associated and sporadic spinal hemangioblastomas: a subgroup analysis from a multicentric study.

Acta neuropathologica communications
2026

Percutaneous Cryoablation With Lipiodol Marking for Hereditary Renal Cell Carcinomas: Cancer Control and Renal Functional Outcomes.

International journal of urology : official journal of the Japanese Urological Association
2025

Dysregulation of the ubiquitin-proteasome system in von Hippel-Lindau syndrome: molecular insights and clinical perspectives.

Clinical and experimental medicine
2025

From surgery to systemic therapy in von Hippel-Lindau disease: insights from extended follow-up of LITESPARK-004.

Translational andrology and urology
2025

From surgery to systemic therapy: long-term lessons of belzutifan in von Hippel-Lindau disease.

Translational andrology and urology
2025

Adrenergic Storm with Obstructive Hydrocephalus: Atypical Neurological Presentation of Von Hippel-Lindau Disease with Bilateral Pheochromocytoma in an Adolescent.

Journal of the ASEAN Federation of Endocrine Societies
2025

Near-infrared carbon dots enable ultra-sensitive fluorometric detection of belzutifan: a novel approach for real-time therapeutic drug monitoring in cancer treatment.

Analytical methods : advancing methods and applications
2025

Familial Von Hippel-Lindau Disease: A Case Series of Cerebral Hemangioblastomas with MRI, Histopathological, and Genetic Correlations.

Life (Basel, Switzerland)
2025

Von Hippel-Lindau Disease-Associated Endolymphatic Sac Tumours: Seven Cases and Genotype-Phenotype Features.

Current oncology (Toronto, Ont.)
2025

Genetic Testing and Counselling for Hereditary Renal Carcinoma: What Do Clinicians Need to Know?

European urology open science
2025

Clinical challenges of cancer predisposition syndromes with pediatric central nervous system tumors: a single-center study.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2026

Re: W. Marston Linehan, Cathy Anne Pinto, Yanfang Liu, et al. Longitudinal Evaluation of Clear-cell Renal Cell Carcinoma in von Hippel-Lindau Disease. Eur Urol 2025;88:56-63.

European urology
2025

The truth behind multiple neuroendocrine tumors: Von Hippel-Lindau syndrome and its diagnostic challenges-A case report and literature review.

Science progress
2025

Stereotactic radiosurgery as adjuvant or salvage treatment for sporadic hemangioblastomas: A multi-center international study.

Journal of the neurological sciences
2025

Intra- and inter-tumoural heterogeneity in von Hippel-Lindau disease-related renal cancer: a multimodal data study protocol.

European radiology experimental
2025

Long-term HIF-2α inhibition in von Hippel-Lindau disease: insights from LITESPARK-004.

Translational andrology and urology
2026

Multigenerational VHL family characterized by pathogenic germline ELOC variant: Response to belzutifan.

Urologic oncology
2025

Types of pancreatic lesions and the mutational landscape of the VHL gene in patients with von Hippel-Lindau disease.

Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.]
2025

Identification of a VHL germline deletion in a family with Von Hippel-Lindau syndrome using MLPA-NGS.

BMC medical genomics
2026

All-in-One Case: Comprehensive Detection of VHL Syndrome With 68 Ga-DOTATATE PET/CT.

Clinical nuclear medicine
2025

Belzutifan for patients with Von Hippel-Lindau (VHL) disease-associated heterogeneous tumors - a retrospective single center analysis.

BMC cancer
2025

BRCA1-, BRCA2-, and PALB2-related Fanconi anemia: Scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes.

American journal of human genetics
2025

[Cystic-solid transformation of the pancreas and kidneys due to von Hippel-Lindau disease].

Khirurgiia
2025

Canine Hemangioblastoma: Case Series and Literature Review.

Animals : an open access journal from MDPI
2025

Computed tomography-guided radiofrequency ablation of pheochromocytomas in a small case series with von Hippel-Lindau disease: treatment safety and outcomes.

Abdominal radiology (New York)
2025

Multisystemic Presentation of Von Hippel-Lindau Disease Revealed by Pheochromocytoma and Takotsubo Syndrome.

JACC. Case reports
2025

First-in-class oral hypoxia-inducible factor 2α in von Hippel-Lindau disease: a new era of targeted therapy.

Polish archives of internal medicine
2025

Updated 2025 French guidelines for renal cell carcinoma.

The French journal of urology
2025

HIFα isoform specific activities drive cell-type specificity of VHL-associated oncogenesis.

Nature communications
2025

Gross total resection is associated with improvement and prognosis even in von Hippel-Lindau disease-related hemangioblastomas: Nationwide registry in Japan.

Neuro-oncology practice
2026

Collision of Retinitis Pigmentosa and Von-Hippel Lindau Disease.

American journal of ophthalmology
2025

Laparoscopic Left Hepatectomy for Slowly Progressing Primary Hepatic Carcinosarcoma Associated With Von Hippel-Lindau Disease.

Asian journal of endoscopic surgery
2025

Unraveling the impact of VHL exon 2 mutations in erythrocytosis or von Hippel-Lindau disease identified RNA-binding proteins involved in VHL splicing.

American journal of human genetics
2025

Role of PPV in Advanced Retinal Hemangioblastoma-A Systematic Review.

International ophthalmology clinics
2026

Quantitative analysis of the anti-VEGF effect for retinal capillary hemangiomas and vasoproliferative tumors.

European journal of ophthalmology
2025

The gradual expansion of multiple intramedullary metastatic renal cell carcinoma in a patient with von Hippel-Lindau disease with multiple intramedullary hemangioblastomas: illustrative case.

Journal of neurosurgery. Case lessons
2025

Mathematical modeling and simulation of tumor-induced angiogenesis in retinal hemangioblastoma.

PLoS computational biology
2025

Pancreatic Hemangioblastoma in a Patient with von Hippel-Lindau Disease: A Case Report.

Surgical case reports
2025

The safety profile of belzutifan in renal tumors: real-world data from a tertiary academic center.

The oncologist
2025

Pancreatic Involvement by Mixed Serous Neuroendocrine Neoplasm Detected by Endosonography With Fine-Needle Tissue Acquisition in Von Hippel-Lindau Disease.

Cureus
2025

Impact of Belzutifan on Pancreatic Cystic Lesions and Neuroendocrine Tumors in Patients With Von Hippel-Lindau Disease.

Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association
2025

Presentation, management, and clinical outcomes of von Hippel-Lindau syndrome.

Hong Kong medical journal = Xianggang yi xue za zhi
2025

Synchronous giant bilateral renal tumors as initial presentation of Von Hippel-Lindau disease: Sequential surgical management and transition to renal replacement therapy.

Urology case reports
2026

Unclassified Renal Cell Carcinoma with Reverse Polarity and Pathogenic von Hippel-Lindau Mutation in a Congenital Renal Malformation.

International journal of surgical pathology
2025

Belzutifan-Associated Hypoxia: A Review of the Novel Therapeutic, Proposed Mechanisms of Hypoxia, and Management Recommendations.

International journal of molecular sciences
2025

The impact of surgery on patients with Von Hippel-Lindau-associated tumors: an international patient survey.

The oncologist
2025

Quantification of Belzutifan in Biological Samples: LC-MS/MS Method Validation and Pharmacokinetic Study in Rats.

Biomedical chromatography : BMC
2025

Proteomic characterization of the pseudocapsule of clear cell renal cell carcinoma in VHL disease reveals a distinct microenvironment at the tumor boundary zone.

Neoplasia (New York, N.Y.)
2025

Von Hippel-Lindau Disease.

Advances in experimental medicine and biology
2025

Tumor-to-Tumor Metastasis in a Patient With Hemangioblastoma Unrelated to von Hippel-Lindau Disease: A Case Report and Review of the Literature.

Cureus
2025

Clinical, Pathologic, and Genetic Correlates of Nuclear Grade in von Hippel-Lindau-associated Renal Cell Carcinoma.

Urology
2025

Detection of VHL variant on multigene panel testing for hereditary breast cancer: Implications for genetic counselling.

Cancer genetics
2026

Incidental Discovery of Synchronous Ileal Neuroendocrine Tumors at Fluorodopa PET/CT in a Patient With Bilateral Pheochromocytoma.

Clinical nuclear medicine
2025

PMDA regulatory update on approval and revision of the precautions for use of anticancer drugs in Japan; nivolumab plus ipilimumab for hepatocellular carcinoma, fedratinib for myelofibrosis, talquetamab for multiple myeloma, and belzutifan for tumors associated with von Hippel-Lindau disease and renal cell carcinoma.

International journal of clinical oncology
2025

Anesthetic challenges in a pregnant patient with Von Hippel-Lindau disease: A case report.

Saudi journal of anaesthesia
2025

Case report: Nephrotic syndrome induced by Lenvatinib treatment in a patient with von Hippel-Lindau syndrome.

BMC nephrology
2025

Papillary endolymphatic sac tumor: Case report with clinical study and therapeutic management.

International journal of surgery case reports
2025

Real-world challenges and considerations in treating von Hippel-Lindau disease with HIF-2α inhibitors - Authors' reply.

The Lancet. Oncology
2025

Real-world challenges and considerations in treating von Hippel-Lindau disease with HIF-2α inhibitors.

The Lancet. Oncology
2025

Analysis of BRCA1, BRCA2 and PALB2 related Fanconi anemia identifies scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes.

medRxiv : the preprint server for health sciences
2025

Bilateral Pheochromocytoma in a Child Revealing Von Hippel-Lindau Disease.

Cureus
2025

Von Hippel-Lindau disease caused obstructive jaundice.

Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver
2026

Outcomes After Stereotactic Radiosurgery for Intracranial Hemangioblastoma in Von Hippel-Lindau Disease and Sporadic Cases: An International Multicenter Study.

Neurosurgery
2025

Corrigendum to "Von Hippel-Lindau Disease : A Comprehensive Review of Diagnosis, Genetics, Clinical Challenges, and Surveillance" by Jung et al. (J Korean Neurosurg Soc 68 : 338-349, 2025).

Journal of Korean Neurosurgical Society
2025

When is belzutifan the right option for von Hippel-Lindau disease-associated hemangioblastomas?-a critical review of LITESPARK-004 results.

Translational cancer research
2025

Leptomeningeal hemangioblastoma: illustrative case.

Journal of neurosurgery. Case lessons
2025

A real-world pharmacovigilance study of belzutifan in renal cell carcinoma and von Hippel-Lindau disease: insights from the FDA adverse event reporting system database.

International journal of clinical pharmacy
2025

Genotype-phenotype correlation in Iranian retinal hemangioblastoma patients and genetic diagnosis algorithm for Von Hippel-Lindau disease.

Ophthalmic genetics
2025

Bilateral simultaneous laparoscopic clipless adrenal-sparing surgery for pheochromocytoma in a pediatric patient: A case report.

Urology case reports
2025

CRISPR/Cas9-mediated editing of VHL in induced pluripotent stem cells: A model for early cell fate in von Hippel-Lindau syndrome.

Stem cell research
2025

Pseudohypoxia caused by germline genetic alterations in the VHL gene is associated with increased diabetes and cardiovascular risk: a UK biobank study.

Cardiovascular diabetology
2024

Unilateral Pheochromocytoma in Von Hippel-Lindau Syndrome Revealed by a Hemangioblastoma.

Kathmandu University medical journal (KUMJ)
2025

Dual Inhibition of HIF-1α and HIF-2α as a Promising Treatment for VHL-Associated Hemangioblastomas: A Pilot Study Using Patient-Derived Primary Cell Cultures.

Biomedicines
2025

Bilateral Pheochromocytoma with a Novel Pathogenic Variant in the MAX gene: A Case Report.

Journal of the ASEAN Federation of Endocrine Societies
2025

Spinal Hemangioblastoma: The Role of Imaging Characteristics in Preoperative Diagnosis and Surgical Planning.

Cureus
2025

Fibroblast growth factor receptor expression in hemangioblastomas: A novel therapeutic target.

PloS one
2025

Fatal intracranial haemorrhage shortly after belzutifan initiation in von Hippel-Lindau (VHL) disease-associated haemangioblastoma.

ESMO open
2025

When Evidence Falls Short-Belzutifan for Treating Tumours Associated with von Hippel-Lindau Disease: An External Assessment Group Perspective on a NICE Single Technology Appraisal.

PharmacoEconomics
2025

Disease Monitoring and Treatment Patterns of von Hippel-Lindau Disease-Associated Renal Cell Carcinoma in the United States.

Clinical genitourinary cancer
2025

Pediatric and adolescent von Hippel-Lindau disease: tumor profiles, genotype-phenotype correlation and comparison with adults.

Journal of endocrinological investigation
2025

Longitudinal Evaluation of Clear-cell Renal Cell Carcinoma in von Hippel-Lindau Disease.

European urology
2025

Genetics and current research models of Mendelian tumor predisposition syndromes with ocular involvement.

Progress in retinal and eye research
2025

[Clinical characterization in patients with neurocutaneous syndrome].

Revista medica del Instituto Mexicano del Seguro Social
2025

Novel OCT Angiography Features, von Hippel-Lindau Disease Association, and Genetic Characterization of Juxtapapillary Retinal Capillary Hemangiomas.

Investigative ophthalmology &amp; visual science
2025

Update on Surveillance in Von Hippel-Lindau Disease.

Clinical cancer research : an official journal of the American Association for Cancer Research
2025

Belzutifan for von Hippel-Lindau disease-associated renal cell carcinoma and other neoplasms (LITESPARK-004): 50 months follow-up from a single-arm, phase 2 study.

The Lancet. Oncology
2025

Belzutifan in von Hippel-Lindau disease.

The Lancet. Oncology
2025

Retinal vascular proliferation with fibrotic regression in von Hippel-Lindau disease.

Taiwan journal of ophthalmology
2025

A Corticotropin-Secreting Adenoma in the Setting of von Hippel-Lindau Disease.

JCEM case reports
2025

Genotype-specific neoplastic risk profiles in patients with VHL disease.

Endocrine-related cancer
2025

Emerging Paradigms in Genitourinary Cancers: Integrating Molecular Imaging, Hypoxia-Inducible Factor-Targeted Therapies, and Antibody-Drug Conjugates in Renal Cell and Urothelial Carcinomas.

American Society of Clinical Oncology educational book. American Society of Clinical Oncology. Annual Meeting
2025

Bilateral papillary cystadenoma of the broad ligament: a manifestation of Von Hippel-Lindau disease: a case report.

Journal of medical case reports
2025

Urinary leak after partial nephrectomy: Insights from a cohort with hereditary, multifocal, and reoperative cases.

Urologic oncology
2025

Pancreatic neuroendocrine neoplasms (pNENs): Genetic and environmental biomarkers for risk of occurrence and prognosis.

Seminars in cancer biology
2025

Factors that predict progression of von Hippel-Lindau disease-related malignancy: a longitudinal cohort study.

BMC cancer
2025

Very early-onset symptomatic CNS haemangioblastoma in Von Hippel-Lindau disease.

Journal of medical genetics
2025

Mosaic Form of von Hippel-Lindau Syndrome: Case Report and Literature Review.

International journal of molecular sciences
2026

Resection of a Cervical Spine Hemangioblastoma in Von Hippel-Lindau Disease: 2-Dimensional Operative Video.

Operative neurosurgery (Hagerstown, Md.)
2025

Von Hippel-Lindau Disease : A Comprehensive Review of Diagnosis, Genetics, Clinical Challenges, and Surveillance.

Journal of Korean Neurosurgical Society
2025

Pancreatic Serous Neoplasm and Metastatic Clear Cell Renal Cell Carcinoma: Diagnostic Pitfalls Resolvable by a Panel of Immunohistochemical Stains to Include PAX8 and CK7 But Not CAIX.

The American journal of surgical pathology
2025

Stereotactic radiosurgery in the management of central nervous system hemangioblastomas: a systematic review and meta-analysis.

Neurosurgical review
2025

Characterization of the Pheochromocytoma-Predominant Subgroup of von Hippel-Lindau Disease.

Urology
2025

Recanalization and interventional stenting of a closed ductus arteriosus in pulmonary hypertension associated with von Hippel-Lindau disease: a case report.

Cardiology in the young
2025

"Incidentally" discovered Von Hippel Lindau disease: an emerging clinical phenotype.

The oncologist
2025

Von Hippel-Lindau syndrome with bilateral renal and an interaortocaval mass.

BMJ case reports
2025

Von Hippel-Lindau syndrome: clinical features, genetic foundations, and management strategies.

Molecular biology reports
2025

First Single-Centre Experience with the Novel HIF-α Inhibitor Belzutifan in Switzerland.

Current oncology (Toronto, Ont.)
2025

Vasoproliferative Retinal Tumors: Manifestations, Management, and Outcomes in a Case Series.

Case reports in ophthalmology
2025

Delivering Trio Germline Whole Genome Sequencing to Patients Newly Diagnosed With Childhood Cancer: Healthcare Professionals' Perspectives of the PREDICT Study.

Cancer medicine
2025

Local tumor control and neurological outcomes after surgery for spinal hemangioblastomas in sporadic and von Hippel-Lindau disease: A multicenter study.

Neuro-oncology
2025

Pathogenicity of germline VHL variants is associated with renal cell carcinoma size in von Hippel-Lindau disease.

Archives of endocrinology and metabolism
2025

[Retinal vasoproliferative tumor (retinal reactive astrocytic tumor)].

Journal francais d'ophtalmologie
2025

A New Era of Management of Von Hippel-Lindau Disease-Associated Tumors With Belzutifan.

Clinical journal of oncology nursing
2025

Morphology of Retinal Hemangioblastoma in von Hippel-Lindau Disease Revealed by Optical Coherence Tomography Angiography.

Klinische Monatsblatter fur Augenheilkunde
2025

Laparoscopic Partial Nephrectomy for Multiple Complex Renal Masses in a Patient With Von Hippel-Lindau Syndrome: A Case Report.

Cureus
2024

Therapeutic Dilemma of a Juxtapapillary Retinal Capillary Hemangioma.

Cureus
2024

Case report: Endolymphatic sac tumor with blurred vision.

Frontiers in oncology
2024

Relationship between ZHX2 Expression and VHL Gene Alteration in VHL-associated and Sporadic Hemangioblastomas of the Central Nervous System.

Journal of kidney cancer and VHL
2025

Long-term surgical outcomes and prognosis of cervical spinal hemangioblastomas.

Clinical neurology and neurosurgery
2025

Evaluation of Tumor-Infiltrating Leukocytes in Endolymphatic Sac Tumor.

The Laryngoscope
2025

Oral Herpes Simplex Virus Mimicking Tongue Squamous cell Carcinoma in Von Hippel-Lindau Patient: A Case Image.

Head and neck pathology
2025

New Developments in VHL-Associated Neuroendocrine Neoplasms.

Current oncology reports
2025

Belzutifan as the Primary Treatment of Bilateral Juxtapapillary Retinal Hemangioblastoma in a Patient With Von Hippel-Lindau Disease.

Journal of vitreoretinal diseases
2025

Pheochromocytoma in von Hippel-Lindau Disease: Clinical Features and Comparison With Sporadic Pheochromocytoma.

Clinical endocrinology
2025

Genetic syndromes associated with pancreatic neuroendocrine neoplasms and imaging diagnostic strategies.

Abdominal radiology (New York)
2024

Is the TriNetX Database a Good Tool for Investigation of Real-World Management of Von Hippel-Lindau?

Journal of kidney cancer and VHL
2024

[Diagnostic and therapeutic perspectives in RASopathies].

Magyar onkologia
2024

[Stereotactic radiotherapy of spinal hemangioblastoma].

Zhurnal voprosy neirokhirurgii imeni N. N. Burdenko
2024

Case study of a potential West Polynesian variant of von Hippel-Lindau disease.

The New Zealand medical journal
2024

Generation of TWO iPSC lines (CRICKi009-A; CRICKi010-A) from patients with type 1 von Hippel-Lindau (VHL) and histopathologically confirmed renal cell carcinoma (RCC).

Stem cell research
2025

Surgical Management and Prognostic Factors for Endolymphatic Sac Tumor: A Single-Institute Experience with a Systematic Review.

World neurosurgery
2024

Von Hippel-Lindau disease with ocular and multiple systemic findings.

BMJ case reports
2024

Spinal cord hemangioblastomas in von Hippel-Lindau disease.

Neuro-oncology advances
2024

Current views on the role of HIF-2α in the pathogenesis and syndromic presentation of pheochromocytoma and paraganglioma.

Best practice &amp; research. Clinical endocrinology &amp; metabolism
2024

Comparative analysis of stereotactic radiosurgery outcomes for supratentorial hemangioblastomas in von hippel-lindau disease and sporadic cases: A multi-center international study.

Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia
2025

Pediatric patients with von Hippel-Lindau and hemangioblastomas treated successfully with belzutifan.

Pediatric blood &amp; cancer
2025

Multisystem diseases in the abdomen and pelvis: imaging manifestations and diagnostic roles of cross-sectional imaging.

Abdominal radiology (New York)
2024

Follow-up report on pulmonary mucosa-associated lymphoma in a patient with von Hippel-Lindau disease.

Journal of surgical case reports
2024

Genotype-phenotype correlation of ocular von Hippel-Lindau disease in Koreans.

PloS one
2024

Familial and early recurrent pheochromocytoma in a child with a novel in-frame duplication variant of VHL.

Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology
2024

Unique properties of clinical manifestation and magnetic resonance imaging for differential diagnosis of optic nerve hemangioblastoma.

Eye (London, England)
2024

Application of carbonic anhydrase IX in sporadic hemangioblastoma of the central nervous system and hemangioblastoma associated with von Hippel-Lindau disease.

Clinical neuropathology
2024

Phenotypic and Genotypic Features of a Chinese Cohort with Retinal Hemangioblastoma.

Genes
2024

Total loss of VHL gene function impairs neuroendocrine cancer cell fitness due to excessive HIF2α activity.

Proceedings of the National Academy of Sciences of the United States of America
2024

A novel pathogenic germline chromosome 3 inversion in von Hippel-Lindau disease.

Journal of medical genetics
2024

Hereditary Pheochromocytoma as a Main Manifestation of von Hippel Lindau Disease (vHL) in Childhood - A Long-term Follow-up of 5 Patients with vHL from One Family.

Journal of clinical research in pediatric endocrinology
2025

Belzutifan Efficacy and Tolerability in Patients with Sporadic Metastatic Clear Cell Renal Cell Carcinoma.

European urology focus
2024

Belzutifan for patients with von Hippel-Lindau disease-associated CNS haemangioblastomas (LITESPARK-004): a multicentre, single-arm, phase 2 study.

The Lancet. Oncology
2024

Genetics, Pathophysiology, and Current Challenges in Von Hippel-Lindau Disease Therapeutics.

Diagnostics (Basel, Switzerland)
2024

Belzutifan in Individuals with von Hippel-Lindau Retinal Hemangioblastomas: Institutional Experience and Review of the Literature.

Ocular oncology and pathology
2024

Advances in Molecular Mechanisms of Kidney Disease: Integrating Renal Tumorigenesis of Hereditary Cancer Syndrome.

International journal of molecular sciences
2025

Clear Cell Renal Cell Carcinoma: Characterizing the Phenotype of Von Hippel-Lindau Mutation Using MRI.

Journal of magnetic resonance imaging : JMRI
2024

Endolymphatic Sac Tumors Associated With von Hippel-Lindau: A Case Report Highlighting Opportunity for Novel Orphan Drug Therapy.

Otology &amp; neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology
2024

Unusual Presentation of Von Hippel-Lindau Syndrome With Gastric Variceal Bleeding.

Cureus
2024

The genetic differences between types 1 and 2 in von Hippel-Lindau syndrome: comprehensive meta-analysis.

BMC ophthalmology
2024

Understanding Adult Central Nervous System Hemangioblastomas: A Systematic Review.

World neurosurgery
2024

The rare diagnosis of Von Hippel-Lindau disease in a 29-year-old patient.

Oman journal of ophthalmology
2024

Innovative solutions? Belzutifan therapy for hemangioblastomas in Von Hippel-Lindau disease: A systematic review and single-arm meta-analysis.

Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia
2024

Clinical T1a Renal Cell Carcinoma with Solitary Diaphragmatic Metastasis in a Patient with von Hippel-Lindau Disease.

Journal of kidney cancer and VHL
2024

Neurosurgical Implications of Targeting Hypoxia-Inducible Factor 2α in Hemangioblastomas with Belzutifan.

World neurosurgery
2024

Trigeminal nerve hemangioblastoma in the setting of undiagnosed von Hippel-Lindau disease: illustrative case.

Journal of neurosurgery. Case lessons
2024

Evaluating the Urinary Exosome microRNA Profile of von Hippel Lindau Syndrome Patients with Clear Cell Renal Cell Carcinoma.

Genes
2024

Optic nerve and chiasm hemangioblastomas in von Hippel-Lindau disease: report of 12 cases and review of the literature.

Frontiers in oncology
2024

Portal Venous Thrombosis after Percutaneous Cryoablation for Renal Cell Carcinoma.

Journal of kidney cancer and VHL
2024

Single Stage Bilateral Adrenalectomy (Cortical-Sparing) and Pancreatectomy (Corpus-Sparing) in a Patient with Von Hippel-Lindau Disease.

Sisli Etfal Hastanesi tip bulteni
2024

Optical Coherence Tomography Angiography-Navigated Laser Photocoagulation of Retinal Hemangioblastomas in Patients With von Hippel-Lindau Disease.

Translational vision science &amp; technology
2024

von Hippel-Lindau Syndrome and Secondary Hypertension: A Case Report.

Cureus
2024

Cauda equina myxopapillary ependymoma in von Hippel-Lindau disease: A case report.

Surgical neurology international
2024

Characterization of spinal hemangioblastomas in patients with and without von Hippel-Lindau, and YAP expression.

Revista espanola de patologia : publicacion oficial de la Sociedad Espanola de Anatomia Patologica y de la Sociedad Espanola de Citologia
2024

Comprehensive treatment of von Hippel-Lindau disease: A case report.

Cancer innovation
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Associações

Organizações que acompanham esta doença — pra ter apoio e orientação

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Doença com base genética

Um médico geneticista pode ajudar no diagnóstico de Doença de von Hippel-Lindau e no aconselhamento genético da família.

Vai consultar um especialista? Confirme o registro dele no conselho.
Conselhos e sociedades

Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

Perguntas frequentes

O que as famílias mais perguntam sobre esta doença — cada resposta com a fonte de onde saiu

Respostas geradas por IA a partir das fontes citadas

Sim, a doença de von Hippel-Lindau possui padrão de herança autossômica dominante, provocada por alterações no gene VHL. Isso quer dizer que uma pessoa que possui a variante genética tem 50% de chance de transmiti-la a cada gestação.

Referências

Fontes citadas no texto, publicações do grafo e bases de dados usadas neste verbete

10 publicações do grafo RarasNet (PubMed) · 8 bases de dados. Títulos, periódicos e PMIDs vêm direto da fonte, sem intermediação de IA.

  1. Whole-Genome Landscape of Retinal Hemangioblastomas.
    Translational vision science &amp; technology2026PMID 41533848
  2. Pancreatic Involvement in von Hippel Lindau Disease: A Single-Center Experience.
    JGH open : an open access journal of gastroenterology and hepatology2026PMID 41709978
  3. ORPHA:892
    Orphanet
  4. GARD:7855
    GARD (NIH)
  5. Q741315
    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.

Citar este verbete

Raras. (s.d.). Doença de von Hippel-Lindau. Em Raras — Enciclopédia de Doenças Raras do Brasil. https://raras.org/doenca/doenca-de-von-hippel-lindau

Formato APA. Conteúdo sob CC BY 4.0 — reuso livre com atribuição.

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Doença de von Hippel-Lindau
Compêndio · Raras BR

Doença de von Hippel-Lindau

ORPHA:892 · MONDO:0008667
🇧🇷 Brasil SUS
SIGTAP
5 procedimentos
Geral
Prevalência
1-9 / 100 000
Herança
Autosomal dominant
CID-10
Q85.8 · Outras facomatoses não classificadas em outra parte
CID-11
Ensaios
21 ativos
Medicamentos
6 registrados
Início
Adolescent, Adult, Childhood
Prevalência
1.1 (United Kingdom)
MedGen
UMLS
C0019562
EuropePMC
Wikidata
Wikipedia
Papers 10a
Evidência
🥈 Ensaio clínico

📋 Origem dos dados

Esta página agrega dados de fontes públicas e oficiais. Dados sobre cobertura no SUS (PCDT, CEAF) são verificados ativamente por agente proativo (ver badge no infobox). Demais dados têm atribuição de fonte + data da última sincronização — clique para abrir o original.

Doença rara (ontologia)
fonte: Orphanet
Identificador unificado
fonte: MONDO
Genética mendeliana
fonte: OMIM
Indexação biomédica
fonte: MeSH (NLM)
Dado público estruturado
fonte: Wikidata
Moléculas estudadas na doença
fonte: OpenTargets
Rara