Raras
Buscar doenças, sintomas, genes...
Síndrome de acro - osteólise - lesões semelhantes a queloide - envelhecimento precoce
Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

Muitas condições de pele afetam o sistema tegumentar humano—o sistema de órgãos que cobre toda a superfície do corpo e é composto por pele, pelos, unhas e músculos e glândulas relacionados. A principal função desse sistema é atuar como uma barreira contra o ambiente externo. A pele pesa em média quatro quilos, cobre uma área de dois metros quadrados e é composta por três camadas distintas: a epiderme, a derme e o tecido subcutâneo. Os dois principais tipos de pele humana são: a pele glabra, a pele sem pelos nas palmas das mãos e nas solas dos pés, e a pele com pelos. Neste último tipo, os pelos ocorrem em estruturas chamadas unidades pilossebáceas, cada uma com folículo piloso, glândula sebácea e músculo eretor do pelo associado.

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
<1 / 1 000 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
Casos conhecidos
5
pacientes catalogados
Início
Infancy
+ neonatal
🏥
SUS: Sem cobertura SUSScore: 0%
CID-10: E34.8
Você se identifica com essa condição?
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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

🦴
Ossos e articulações
13 sintomas
😀
Face
11 sintomas
🧬
Pele e cabelo
6 sintomas
📏
Crescimento
4 sintomas
👁️
Olhos
4 sintomas
🧠
Neurológico
3 sintomas

+ 17 sintomas em outras categorias

Características mais comuns

100%prev.
Defeitos osteolíticos das falanges distais da mão
Frequência: 4/4
100%prev.
Aparência de envelhecimento prematuro
Frequência: 4/4
75%prev.
Início na infância
Frequência: 3/4
50%prev.
Cisto da fossa posterior
Frequência: 2/4
50%prev.
Maturação esquelética atrasada
Frequência: 2/4
50%prev.
Palma curta
Frequência: 2/4
63sintomas
Muito frequente (2)
Frequente (5)
Ocasional (46)
Sem dados (10)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 63 características clínicas mais associadas, ordenadas por frequência.

Defeitos osteolíticos das falanges distais da mãoOsteolytic defects of the distal phalanges of the hand
Frequência: 4/4100%
Aparência de envelhecimento prematuroPrematurely aged appearance
Frequência: 4/4100%
Início na infânciaChildhood onset
Frequência: 3/475%
Cisto da fossa posteriorPosterior fossa cyst
Frequência: 2/450%
Maturação esquelética atrasadaDelayed skeletal maturation
Frequência: 2/450%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Últimos 10 anos200publicações
Pico2026197 papers
Linha do tempo
2026Hoje · 2026🧪 2023Primeiro ensaio clínico
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

1 gene identificado com associação a esta condição. Padrão de herança: Autosomal dominant.

PDGFRBPlatelet-derived growth factor receptor betaDisease-causing germline mutation(s) (gain of function) inAltamente restrito
FUNÇÃO

Tyrosine-protein kinase that acts as a cell-surface receptor for homodimeric PDGFB and PDGFD and for heterodimers formed by PDGFA and PDGFB, and plays an essential role in the regulation of embryonic development, cell proliferation, survival, differentiation, chemotaxis and migration. Plays an essential role in blood vessel development by promoting proliferation, migration and recruitment of pericytes and smooth muscle cells to endothelial cells. Plays a role in the migration of vascular smooth

LOCALIZAÇÃO

Cell membraneCytoplasmic vesicleLysosome lumen

VIAS BIOLÓGICAS (1)
Signaling by PDGF
EXPRESSÃO TECIDUAL(Ubíquo)
Cervix Ectocervix
398.1 TPM
Cervix Endocervix
353.6 TPM
Artéria tibial
346.2 TPM
Tecido adiposo
303.2 TPM
Artéria coronária
277.8 TPM
OUTRAS DOENÇAS (10)
myofibromatosis, infantile, 1acroosteolysis-keloid-like lesions-premature aging syndromebasal ganglia calcification, idiopathic, 4ocular pterygium-digital keloid dysplasia syndrome
HGNC:8804UniProt:P09619

Variantes genéticas (ClinVar)

148 variantes patogênicas registradas no ClinVar.

🧬 PDGFRB: NM_002609.4(PDGFRB):c.1A>G (p.Met1Val) ()
🧬 PDGFRB: NM_002609.4(PDGFRB):c.2312A>G (p.Tyr771Cys) ()
🧬 PDGFRB: NM_002609.4(PDGFRB):c.2546G>C (p.Arg849Pro) ()
🧬 PDGFRB: NM_002609.4(PDGFRB):c.2941G>A (p.Asp981Asn) ()
🧬 PDGFRB: NM_002609.4(PDGFRB):c.2433C>T (p.Ala811=) ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 465 variantes classificadas pelo ClinVar.

23
256
186
Patogênica (4.9%)
VUS (55.1%)
Benigna (40.0%)
VARIANTES MAIS SIGNIFICATIVAS
PDGFRB: NM_002609.4(PDGFRB):c.1A>G (p.Met1Val) [Likely pathogenic]
PDGFRB: NM_002609.4(PDGFRB):c.1154G>A (p.Arg385His) [Uncertain significance]
PDGFRB: NM_002609.4(PDGFRB):c.1548G>C (p.Gln516His) [Uncertain significance]
PDGFRB: NM_002609.4(PDGFRB):c.3186C>G (p.Ser1062Arg) [Uncertain significance]
PDGFRB: NM_002609.4(PDGFRB):c.2794G>A (p.Glu932Lys) [Uncertain significance]

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Carregando informações de tratamento...

Onde tratar no SUS

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

🇧🇷 Atendimento SUS — Síndrome de acro - osteólise - lesões semelhantes a queloide - envelhecimento precoce

🗺️

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

Pesquisa e ensaios clínicos

Nenhum ensaio clínico registrado para esta condição.

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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

A Tale of Monozygotic Twins With Down Syndrome: Divergent Clinical Paths to Dementia.

Neurology open access2026 Mar

Individuals with Down syndrome (DS) have a very high risk for developing Alzheimer's disease (AD) due to the triplication of the amyloid precursor protein gene on chromosome 21. We describe a unique set of female monozygotic twins with Trisomy 21 and mild intellectual disability with significantly discordant rates of cognitive decline. The twins were followed longitudinally, starting at age 42, using cognitive assessments (Down Syndrome Mental Status Examination and Modified Cued Recall). Caregiver assessments included the Dementia Questionnaire for People with Learning Disabilities, National Task Group - Early Detection Screen for Dementia and the Neuropsychiatric Inventory. Blood was collected for AD biomarkers. Performance on baseline cognitive assessments was similar; however, by Timepoint 1, Twin 2 met criteria for mild cognitive impairment (MCI) and by Timepoint 2 met criteria for dementia due to AD. In contrast, Twin 1 remained cognitively stable. Caregiver assessment at baseline showed concerns about Twin 2's social skills, which remained stable across timepoints. AD protein biomarker levels were similar. Discordant cognitive decline could not be explained by clinical co-morbidities, medications, or environment, suggesting that other factors, such as epigenetics, could underlie phenotypic variability and variable risk for AD in DS and deserves further study.

#2

Neuropsychological aspects of impulse control disorders in Parkinson's disease.

Frontiers in aging neuroscience2026

Impulse control disorders (ICDs), such as excessive gambling, compulsive sexual behavior, binge eating, compulsive shopping as well as punding, and the dopamine dysregulation syndrome, may arise as a debilitating neuropsychiatric complication in Parkinson's disease (PD). Although the pathophysiology is not fully understood, it likely involves mesolimbic dopaminergic overstimulation combined with disease-related vulnerabilities in reward, motivation, and inhibitory control networks. This narrative review summarizes evidence on the neuropsychological, affective, and behavioral traits associated with ICDs in PD, with a particular focus on epidemiology/clinical manifestations, neurobiological and pharmacological mechanisms, as well as prevention and management strategies. ICDs can affect up to 40% of PD patients and are strongly associated with dopamine agonist exposure, younger age of onset, premorbid personality traits, and neuropsychiatric comorbidities. Neuropsychological findings reveal abnormalities in several domains, including reflection impulsivity, temporal discounting, novelty seeking, risk processing, and inhibitory control, while mood disorders, sleep dysfunction, apathy, and anxiety further influence vulnerability and worsen behavioral dysregulation. Although general awareness for development of ICDs has been raised, they still represent a significant burden for patients and their family members and are a predictor of functional decline and lower quality of life. Management includes dopamine agonist withdrawal whenever possible, the cessation of fast acting dopaminergic agents and treatment of neuropsychiatric comorbidities. In selected cases, deep brain stimulation or continuous dopaminergic delivery should be considered, particularly in those experiencing persistent worsening of motor symptoms despite appropriate adjustment of dopaminergic medication.

#3

Novel applications of machine learning and computational neuroscience models to neuroimaging in Parkinson's disease and related disorders.

Frontiers in aging neuroscience2026

Parkinsonian syndromes are a heterogeneous group of neurodegenerative diseases that pose challenges in early diagnosis, differentiation, and pathophysiological understanding. The objective of this review is to summarize recent contributions of computational models combined with neuroimaging data to the differential diagnosis of Parkinsonian syndromes, disease subtyping, and understanding of disease processes. Using machine learning algorithms trained with MRI features, diagnostic accuracies above 90% have been achieved for distinguishing patients with Parkinson's disease from healthy controls and for the differential diagnosis of Parkinsonian syndromes. Computational models, such as hierarchical cluster analysis and Subtype and Stage Inference (SuStaIn), have enabled the identification of distinct disease subtypes within Parkinson's disease based on imaging-derived brain features. Network models based on structural and functional connectomes have revealed that disease spread in Parkinson's disease is primarily driven by global connectivity. Additionally, local brain characteristics such as gene expression, cellular composition, and neuroreceptor profiles may contribute to selective vulnerabilities. Computational approaches enhance the diagnosis of Parkinsonian syndromes, particularly in the early stages, and refine the characterization of disease subtypes, benefiting clinicians, especially in non-expert centers. Such applications hold significant potential for enabling more personalized management and selecting appropriate candidates for clinical trials. Furthermore, a deeper understanding of pathophysiology supports the development of disease-specific therapies.

#4

[18F]Fluorodeprenyl-D2 PET as a Tool to Monitor Disease Activity in GAD65-Ab Autoimmune Encephalitis.

Annals of clinical and translational neurology2026 Mar 24

To evaluate [18F]fluorodeprenyl-D2 ([18F]F-DED) positron-emission tomography (PET) imaging as a biomarker of disease activity in autoimmune encephalitis (AIE) associated with glutamic acid decarboxylase 65 (GAD65) antibodies. [18F]F-DED PET was performed in 25 GAD65-AIE patients and 8 controls using dynamic (0-60 min) and static (30-60 min) acquisitions. Global astrogliosis was assessed by volumes of distribution (VT; 1-tissue-compartment model with carotid input) and standardized uptake values (SUV). Regional cerebellar and mesiotemporal (MT) uptake was normalized to global uptake (SUVr). PET measures were correlated with clinical phenotypes, MRI findings, and serum biomarkers (neurofilament light chain [sNfL], GAD65-Ab titers, and glial fibrillary acidic protein [sGFAP]). Clinical phenotypes included limbic encephalitis/temporal lobe epilepsy (LE/TLE; n = 17), stiff-person syndrome (n = 4), and cerebellar ataxia (CA; n = 4), with overlap in nine patients. Global [18F]F-DED uptake was higher in patients than controls. VT analysis showed increased cortical and MT uptake, while SUVr analysis demonstrated elevated MT uptake across the cohort. LE/TLE patients exhibited increased MT uptake, and CA patients showed higher cerebellar uptake. [18F]F-DED uptake did not correlate with sNfL or GAD65-Ab titers, but sGFAP showed associations with cerebellar and white-matter uptake. Regional uptake correlated with clinical severity in LE/TLE (MT lobe) and CA (cerebellar white matter). [18F]F-DED PET reveals region-specific astrogliosis corresponding to clinical manifestations and disease severity in GAD65-AIE, supporting its potential as a monitoring tool for disease activity.

#5

Tau pathology in epilepsy: emerging mechanisms and translational opportunities.

Brain : a journal of neurology2026 Mar 23

The onset of epilepsy in adulthood occurs most commonly after 55 years of age. Given the ageing global population, this disorder represents an increasing burden on healthcare and society. The bidirectional link between epilepsy and dementia is a focus of intense research with underlying tau pathology highlighted as a potential mechanistic link. In this review, we examine the evidence for tau-related neurodegenerative processes in epilepsy beginning with how changes in biochemical and structural properties of the tau protein can lead to abnormal phosphorylation and pathological aggregation. We consider the role of tau in seizure occurrence and cognitive difficulties in experimental animal epilepsy models to human epileptic syndromes. Seizure prevalence is evaluated across established primary and secondary tauopathies to understand the associated hyperexcitability phenotype. We discuss the use of neurophysiology, metabolic imaging and novel fluid biomarkers as non-invasive measures of potential underlying neurodegeneration in epilepsy. It may, for example, be that these can be combined with remote measures of cognition and other physiological parameters to provide accurate longitudinal monitoring of cognition and underlying pathology. We also explore clinical trials that have targeted pathological tau accumulation in neurodegenerative conditions and consider an ongoing clinical study with sodium selenate, an enhancer of protein phosphatase enzyme PP2A, in people with epilepsy. These efforts signify a novel disease-modifying era with treatments that reduce seizures and modify cognitive outcomes in people with epilepsy. Our analysis of the literature underscores the need for more in-depth characterization of tau pathology, at biochemical and structural levels, in brain tissue and peripheral samples from people with epilepsy as an important step to deciphering the role of tau in the pathogenesis of epilepsy and related disorders. Examining the relationships between tau pathology and cognitive impairment in those with epilepsy provides critical perspectives on a potential causal tau pathomechanism that may have important roles in epileptogenesis and dementia.

Publicações recentes

Ver todas no PubMed

📚 EuropePMCmostrando 197

2026

[Preventing dementia in an ageing society].

Therapeutische Umschau. Revue therapeutique
2026

A Tale of Monozygotic Twins With Down Syndrome: Divergent Clinical Paths to Dementia.

Neurology open access
2026

Neuropsychological aspects of impulse control disorders in Parkinson's disease.

Frontiers in aging neuroscience
2026

Novel applications of machine learning and computational neuroscience models to neuroimaging in Parkinson's disease and related disorders.

Frontiers in aging neuroscience
2026

Integrative genomics reveal genetic links of chronic cough with risk factors and brain regional volumes.

ERJ open research
2025

Unfolded proteins and aggregates: The role of proteostasis in pseudoexfoliation pathology.

Molecular vision
2026

[18F]Fluorodeprenyl-D2 PET as a Tool to Monitor Disease Activity in GAD65-Ab Autoimmune Encephalitis.

Annals of clinical and translational neurology
2026

Cystinosin regulates Na+/H+ exchanger 3 trafficking and function in kidney proximal tubular cells.

EMBO reports
2026

Mitochondrial dysfunction in urologic disease.

Prostate cancer and prostatic diseases
2026

Exome sequencing identifies known and candidate genes in hearing impairment in Cameroon.

Communications medicine
2026

Metabolic syndrome in Korean older adults: Prevalence, determinants, and nursing implications.

Geriatric nursing (New York, N.Y.)
2026

Tissue-Specific Expansion of Age-Associated B Cells via IFN-γ and IL-21 Within Salivary Glands in Sjögren Disease.

Journal of immunology research
2026

Effect of Lee Silverman Voice Treatment-BIG Intervention Versus Balance Training via Tele-rehabilitation on Balance and Functional Mobility Among Community-Dwelling Elderly: A Comparative Study.

Cureus
2026

Tau pathology in epilepsy: emerging mechanisms and translational opportunities.

Brain : a journal of neurology
2026

Impact of Prematurity on Metabolic Maturation.

Journal of proteome research
2026

Evaluation of nutritional interventions and their impact on metabolic syndrome risk markers in older adults.

Frontiers in nutrition
2026

Association of Urinary Equol Concentration with Frailty in Community-Dwelling Older Adults: The Itabashi Longitudinal Study on Aging.

Clinical interventions in aging
2026

Longitudinal Subphenotyping of Acute Respiratory Distress Syndrome: Implications in Prognostic Prediction and Clinical Intervention.

Respirology (Carlton, Vic.)
2026

Implementation of a best practice advisory alert for inpatient frailty screening and intervention: A pilot quality improvement program.

The Journal of frailty &amp; aging
2026

Longitudinal norms of frailty measured by the frailty index: A cross-national comparison using data from the survey of health, aging, and retirement in Europe (SHARE).

The Journal of frailty &amp; aging
2026

Neuropathological measures of increased tau phosphorylation across the Down syndrome lifespan.

Acta neuropathologica
2026

Malnutrition: an overlooked geriatric syndrome in older adults with type 2 diabetes.

Aging clinical and experimental research
2026

Role of KLF4 in Neutrophil Aging in Periodontitis with Metabolic Syndrome.

Journal of dental research
2026

Correlation of Thyroid Hormone Levels and Sensitivity With Metabolic Syndrome in Older Adults.

Journal of diabetes
2026

The roles of salivary secretory IgA on the development of oral candidiasis.

Frontiers in oral health
2026

A contemporary review of plasminogen activator inhibitor 1 in cardiovascular disease and broader disease state implications.

Blood vessels, thrombosis &amp; hemostasis
2026

Therapeutic dissociation of CGRP-targeted treatments in migraine and complex regional pain syndrome: Authors' reply.

Cephalalgia : an international journal of headache
2026

Why Is Colorectal Cancer Occurring Earlier? Metabolic Dysfunction, Underrecognized Carcinogens, and Emerging Controversies.

Current obesity reports
2026

Impact of Subdomains of Affective and Cognitive Empathy on Burnout Syndrome in Nurses: A Meta-Analysis.

International nursing review
2026

Postmarketing safety surveillance for GSK's AS01E-adjuvanted respiratory syncytial virus prefusion F protein-based vaccine in the USA: protocol for a non-interventional postauthorisation safety study.

BMJ open
2026

Self-testing for 5 respiratory viruses in adults ≥50 years of age in Germany for longitudinal monitoring of community-acquired acute respiratory infections.

Clinical microbiology and infection : the official publication of the European Society of Clinical Microbiology and Infectious Diseases
2026

The efficacy and safety of cannabinoids for the treatment of mental disorders and substance use disorders: a systematic review and meta-analysis.

The lancet. Psychiatry
2026

MASLD as a systemic metabolic disease: expanding the scope of cardiovascular-kidney-metabolic (CKM) syndrome.

Science China. Life sciences
2026

Phospholipid Glutathione Peroxidase Overexpression Mitigates Cancer Cachexia by Protecting Muscle Mass and Lowering Inflammation.

Journal of cachexia, sarcopenia and muscle
2026

Variant Creutzfeldt-Jakob disease surveillance in Spain, 1993-2021.

Frontiers in public health
2026

Long-term trends in Post-COVID severity: a machine learning analysis from the POP/COVIDOM cohort of the German NAPKON Cohort Network.

EClinicalMedicine
2026

Publisher Correction: Targeting of NAT10 enhances healthspan in a mouse model of human accelerated aging syndrome.

Nature communications
2026

COPD-sleep-disordered breathing overlap and vascular risk markers in non-obese adults: The Nagahama study.

Respiratory medicine
2026

'Just a delirium': a qualitative study of care home managers' perspectives on barriers to delirium recognition and management in UK care homes.

Age and ageing
2026

Twelve-week combined arginine and fish oil supplementation is associated with reduced sarcopenia severity: a randomized, double-blind, placebo-controlled study.

Frontiers in nutrition
2026

Psychiatric and Cognitive Features in Italian Women With the FMR1 Premutation: A Comprehensive Assessment Using SCID-5 and Standardized Cognitive Measures.

American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics
2026

Precision cardiovascular medicine with big data and AI.

NPJ digital medicine
2026

The Impact of Multidimensional Frailty on Adverse Outcomes in Older Adults: A Systematic Review and Meta-Analysis.

Geriatrics &amp; gerontology international
2026

[Frailty in intensive care medicine].

Medizinische Klinik, Intensivmedizin und Notfallmedizin
2026

Brain-Targeted RVG-Liposomal Melatonin Ameliorates Manganese Neurotoxicity by Enhancing Neurogenesis and Modulating Systemic Amino Acid Profiles.

Journal of pineal research
2026

symptom patterns outside the rome iv consensus in eastern and western patients with a disorder of gut-brain interaction.

The American journal of gastroenterology
2026

An Autopsy Case With Fragile X-Associated Tremor/Ataxia Syndrome Presenting Intranuclear Inclusion Bodies Mainly in the Limbic System.

Neuropathology : official journal of the Japanese Society of Neuropathology
2026

Dual-targeted hybrid nanovesicles coordinated bone-muscle regeneration via regulating the DUSP4/p38 MAPK pathway to reverse osteosarcopenia.

Journal of nanobiotechnology
2026

Self-perceptions of aging and depression among community-dwelling older adults: A moderated mediation model of physical function and motoric cognitive risk syndrome.

Journal of Alzheimer's disease : JAD
2026

Magnesium Deficiency Accelerates Gut Aging and Increases Susceptibility to Colitis.

Aging cell
2026

Metabolic Syndrome Duration and Risk of Frailty among Midlife Women: The Study of Women's Health Across the Nation (SWAN).

The journals of gerontology. Series A, Biological sciences and medical sciences
2026

A clinico-molecular classification scheme for ossification of ligamentum flavum: Based on 1034 cases.

Journal of orthopaedic translation
2026

High-Fat Diet Anticipates Age-Related Sarcopenia Through Increased Oxidative Stress and Inflammation.

British journal of biomedical science
2026

From fragmentation to integration: can social prescribing bridge the gap between multimorbidity and mental health in an ageing population?

BMJ public health
2026

[Cockayne syndrome: peculiarities of clinical manifestations and algorithm of observation in childhood].

Problemy endokrinologii
2026

Therapeutic Potential of Goat Whey Protein Hydrolysate and Vitamin-D3 in Combating D-Galactose-Induced Sperm Senescence in Male Mice.

F&amp;S science
2026

The effect of end-tidal carbon dioxide levels on dynamic cerebral autoregulation and clinical outcome in acute ischemic stroke: An INFOMATAS study.

Journal of the neurological sciences
2026

Pathogenic mechanisms of action of autoantibody-mediated central nervous system disorders targeting neuroglial surface antigens.

Autoimmunity reviews
2026

Effect of orlistat and anti-androgen oral contraceptives on pregnancy outcomes in overweight or obese PCOS patients during comprehensive management.

Archives of gynecology and obstetrics
2026

HIV Infection, Neurotoxicity, Inflammation, Premature Aging, and Therapeutic Challenges to PLWH: An Overview.

International journal of molecular sciences
2026

The Correlation Between Smartphone Use and Compressive Ulnar Neuropathy at the Elbow: A Retrospective Study.

Journal of clinical medicine
2026

Succinate supplementation ameliorates musculoskeletal defects caused by PLOD3 mutations in a BCARD syndrome model.

Genome medicine
2026

Association Between Sarcopenia and Frailty Transition in Chinese Older Adults: A Multistate Markov Model Study.

Journal of the American Medical Directors Association
2026

Sleep health in the older adults: Architecture, circadian changes, and common sleep disorders.

Ageing research reviews
2026

Dietary choline and betaine intake and 2-year changes in cognitive function in older adults with overweight or obesity and metabolic syndrome: a prospective cohort analysis.

The American journal of clinical nutrition
2026

Locomotive Syndrome Digital Therapeutics Provided via a Smartphone App: Proof-of-Concept Single-Group Trial Study.

JMIR aging
2026

Clinical and gustatory features in taste disorder patients based on oral Candida culture status.

Clinical oral investigations
2026

Biologically Younger Individuals, as Identified by MARK-AGE Biological Age Scores, Display a Distinct Favourable Blood Chemistry Profile Regardless of Age.

Aging cell
2026

Case Report: Native aortic valve Listeria monocytogenes endocarditis in an adult with Evans syndrome.

Frontiers in immunology
2026

Burden and projections of polycystic ovarian syndrome in the belt and road countries from 1990 to 2021 in the framework of predictive, preventive, and personalised medicine: Analysis based on the global burden of disease.

The EPMA journal
2026

Development and validation of a cardiometabolic multimorbidity prediction model in middle-aged and older adults.

Scientific reports
2026

When Tourette syndrome is reduced to a debate about offence, clinical care suffers.

BMJ (Clinical research ed.)
2026

Randomized Mediterranean Diet Intervention to Reverse Metabolic Syndrome: Preliminary Findings at 6-Month Follow-Up.

Clinical nutrition ESPEN
2026

Ovarian Reserve and Endothelial Health in Healthy Reproductive Age Women.

The Journal of clinical endocrinology and metabolism
2026

IGFBP5 Restores Endometrial Receptivity and Rescues Implantation Failure in Polycystic Ovary Syndrome.

Advanced science (Weinheim, Baden-Wurttemberg, Germany)
2026

Cerebral collateral arteriogenesis and cerebrovascular reserve in aged and diet-induced obese mice after unilateral common carotid occlusion.

Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism
2026

Validity of the Turkish version of the Oral Frailty Index-8 and its relationship with frailty, malnutrition, and sarcopenia in older adults.

Turkish journal of medical sciences
2026

Ageing with Haemophilia: Comorbidities in Focus.

Transfusion medicine and hemotherapy : offizielles Organ der Deutschen Gesellschaft fur Transfusionsmedizin und Immunhamatologie
2026

Preventing ovarian aging: from redox-targeted strategies to extracellular vesicle-based therapies.

Frontiers in aging
2026

The tight bond between Fanconi anemia and aging.

Frontiers in aging
2026

TyG and RC combined with CVD risk in CKM syndrome: A national cohort study.

iScience
2025

Hutchinson-Gilford progeria syndrome alters the endothelial genetic response to laminar shear stress.

Frontiers in physiology
2026

[Effects and mechanisms of Renshen Guben Oral Liquid combined with Jingfang Granules on ovarian aging in perimenopausal mice].

Zhongguo Zhong yao za zhi = Zhongguo zhongyao zazhi = China journal of Chinese materia medica
2025

[Traditional Chinese medicine understanding and treatment strategies for diuretic resistance].

Zhongguo Zhong yao za zhi = Zhongguo zhongyao zazhi = China journal of Chinese materia medica
2026

Unusual Synchronous Arbitrary-Gate Doppler Spectra Enable Intraoperative Hemodynamic Warning of Cerebral Hyperperfusion Syndrome on Moyamoya Disease.

CNS neuroscience &amp; therapeutics
2026

Association between Cardiovascular-Kidney-Metabolic (CKM) syndrome staging and falls among community-dwelling older adults: a cross-sectional study.

BMC geriatrics
2026

Metabotropic glutamate receptor 5 expression associates with pain and inflammatory pathways in interstitial cystitis.

Scientific reports
2026

Healthy Lifestyle Behaviors of Adults Aged 95 Years and Above and Their Relationship with Geriatric Syndromes.

Risk management and healthcare policy
2026

Thrombaxane-B2 as a predictor marker of atrial fibrillation.

International journal of cardiology. Cardiovascular risk and prevention
2026

Chronic inflammation as a driving factor for sarcopenia: an update on pathophysiology and future therapeutic targets.

Frontiers in pharmacology
2026

Genome-Wide Assessment Reveals Ancestral Differences in Homozygosity Patterns Potentially Linked to Parkinson's Disease Etiology.

Movement disorders : official journal of the Movement Disorder Society
2026

Metabolic syndrome among patients with severe mental illness attending a tertiary hospital in northwestern, Tanzania: A cross sectional study.

PLOS mental health
2026

Days Alive and at Home After Critical Illness Hospitalization Among Older Adults and Its Association With Delivery of In-Hospital Rehabilitation.

Critical care medicine
2026

Mitotic BLM functions are required to maintain genomic stability.

Nucleic acids research
2026

Baseline Dementia Prevalence and Subtypes in Older Adults Hospitalized With Acute Coronary Syndrome: A Multicenter Study From a Large Integrated Health Care Delivery System.

The Permanente journal
2026

Rethinking Thiamine in the Emergency Department: Why a Hi-Phy-Vi-Based "Suspect and Treat" Approach Matters in an Aging Society.

Cureus
2026

Calcific Aortopathy in Response to Aging and Injury.

Circulation
2026

Mapping dementia research in Indonesia: A scoping review of evidence, gaps, and future directions.

PLOS global public health
2026

Modulation of tocotrienol's bone effects by osteocytes: a perspective.

Frontiers in pharmacology
2026

Influence of SARS-CoV-2 reinfection on bone health in the population over 55 years old in Beijing, China: a cross-sectional study.

Frontiers in public health
2026

Polyamines as a Universal Language of Host-Microbiota Symbiosis.

Research (Washington, D.C.)
2026

Central amygdala HDAC6 contributes to visceral hypersensitivity and affective comorbidities in IBS-like rats.

International immunopharmacology
2026

[Potential complications and management of hyaluronic acid fillers in facial aesthetics].

Orvosi hetilap
2026

Neuropsychiatric symptoms in preclinical and clinically manifest dementia: clusters and their health determinants.

Alzheimer's &amp; dementia : the journal of the Alzheimer's Association
2026

[Multicomponent nurse-led intervention for the prevention of delirium in hospitalized frail older patients: PREDELENF study protocol].

Revista espanola de geriatria y gerontologia
2026

Persistent Gut-Immune Axis dysregulation in long-term Post-COVID Syndrome: Insights from a prospective, observational, cross-sectional case-control study.

Mucosal immunology
2026

Lymphocyte-To-Monocyte Ratio is Partially Mediated in Age-Related Cardiovascular Mortality in HFpEF: Immunosenescence, Inflamm-Aging, and Longevity.

Reviews in cardiovascular medicine
2026

One-month early time-restricted eating mitigates brain aging and enhances memory in males with metabolic syndrome: an MRI structural study.

Frontiers in aging
2026

Emerging roles of spexin in cardiovascular homeostasis.

Frontiers in cardiovascular medicine
2026

Karyotype-based evaluation of ovarian reserve before ovarian tissue cryopreservation in Turner syndrome patients.

Journal of ovarian research
2026

In Search of Geriatrician Identity.

Journal of the American Geriatrics Society
2026

Neuropsychiatric Symptoms in Patients With Pathologically Confirmed Comorbid Alzheimer Disease and Frontotemporal Lobar Degeneration.

Neurology
2026

Exaggerated Startle - A Diagnostic Clue for PURA Syndrome.

Indian journal of pediatrics
2026

REALiTEC: a multi-country observational retrospective study of teclistamab in patients with relapsed/refractory multiple myeloma outside of clinical trials.

Haematologica
2026

Associations of Skeletal Muscle Mass and Percent Body Fat with Balance, Gait, and Locomotive Syndrome Risk in Community-dwelling Older Women.

Progress in rehabilitation medicine
2026

Ventricular assist device unloading reverses microvascular senescence in single ventricle disease.

Nature cardiovascular research
2026

EXPRESS: miRNA-let7b5p Alleviates Visceral Hypersensitivity by Inhibiting the Activation of Spinal Microglial in Male IBS-like Rats.

Molecular pain
2026

Progerin expression in humans: Implications for natural ageing.

Mechanisms of ageing and development
2026

Oxytocin relieves visceral hypersensitivity through GABAB1-TRPV1 in rats with irritable bowel syndrome.

Sheng li xue bao : [Acta physiologica Sinica]
2026

The relationship between depression, frailty, and successful aging in older adults: a cross-sectional study.

Contemporary nurse
2026

Assessing the ability of SARC-F to reflect elastography-based muscle quality in older adults.

Acta clinica Belgica
2026

Increased incidence of mild cognitive impairment in long COVID patients.

Alzheimer's &amp; dementia : the journal of the Alzheimer's Association
2026

Polydatin in respiratory diseases: multi-target mechanisms and therapeutic potential.

Frontiers in pharmacology
2026

Age-dependent changes in the transverse carpal ligament and median nerve: a cadaveric histological and biomechanical study.

PeerJ
2026

Impact of comorbidities in patients with erosive hand osteoarthritis (EHOA), a monocentric study.

Frontiers in aging
2026

Delineating the trajectory of adult chronic diseases and healthcare use for 22q11.2 microdeletion in a general population context.

Frontiers in genetics
2026

Plaque-type dura mater graft-associated Creutzfeldt-Jakob disease: an autopsied case report.

Prion
2026

A Robust Methodological Framework for Generating Whole-Brain and Cortical Organoids From Diverse Healthy- and Patient-Derived Induced Pluripotent Stem Cell Lines.

Biology of the cell
2026

Accelerated biological aging and the dynamic transitions of stroke and dementia: A multi-state trajectory analysis.

Neurobiology of disease
2026

Immune Preconditioning with Oral Quercetin Supplement and COVID-19 mRNA Vaccine Responses: A Randomized, Double-Blind, Placebo-Controlled Trial.

The Journal of nutrition
2026

Metabolic age as a marker of cardiometabolic risk: Relationships with metabolic syndrome, hypertriglyceridemic waist, and hypertensive waist phenotypes in a large occupational cohort.

Semergen
2026

Insulin resistance and SIRT1 dysregulation in neurodegenerative diseases.

Ageing research reviews
2026

Trends, burden, and outcomes of hypoglycemia hospitalizations in older adults: a territory-wide study in Hong Kong, 2012-2021.

Archives of gerontology and geriatrics
2026

Treating Genitourinary Syndrome of Menopause in Postmenopausal Women with a History of Breast Cancer.

Drugs &amp; aging
2026

Facilitating Macrophage Uptake of DNA Nanostructures for Integrated Imaging and Therapy of Acute Respiratory Distress Syndrome.

ACS applied materials &amp; interfaces
2026

Low-cost bodyweight callisthenic-based HIIT improves blood pressure, glucose control, and TyG in older adults with metabolic syndrome.

Frontiers in sports and active living
2026

Extracellular-to-total body water ratio is associated with comorbidity and cardiorespiratory fitness in older adults with post-COVID-19 syndrome.

Frontiers in nutrition
2026

Geriatric syndromes in elderly hospitalized patients in China: a cross-sectional study.

Frontiers in medicine
2026

Increased cerebrospinal fluid YKL-40 concentration in hip fracture patients with delirium.

Brain communications
2026

The Not-So-Empty Nest: Exploring the Lived Experience of Iranian Parents with Adult Children Migrating from Tehran.

International journal of aging &amp; human development
2026

Aster koraiensis Nakai: Insights into Its Phytoconstituents and Pharmacological Properties.

Pharmaceutics
2026

Understanding Frailty in IBD: Implications for Clinical Outcomes and Multidisciplinary Care.

Journal of clinical medicine
2026

Fats and Facts: A Meta-Analysis of Lipid Biomarkers in Endometrial Cancer.

Life (Basel, Switzerland)
2026

Extracellular Superoxide Dismutase in Acute Respiratory Distress Syndrome: Pathogenic Mechanisms and Therapeutic Implications.

Antioxidants (Basel, Switzerland)
2026

Repurposing Alkylating Agents in Melanoma via ERCC8 Silencing: A Novel Therapeutic Strategy.

Cancers
2026

Objective assessment of long-term impact of COVID-19 on multiple sensory functions.

BMC medicine
2026

The link between caveolae, metabolic syndrome, and cataractogenesis: A mechanistic hypothesis.

Experimental eye research
2026

Randomized phase 2b dose-escalation trial of stem cell therapy with laromestrocel for aging frailty.

Cell stem cell
2026

The impact of microbiome dysbiosis on manganese-induced neurotoxicity: Brain metabolomics and multi-organ 16S rRNA profiling in mice.

Ecotoxicology and environmental safety
2026

The Association Between Polypharmacy, Low Appendicular Skeletal Muscle Mass Index, and Physical Performance: A Cross-Sectional Study.

Gerontology
2026

hs-CRP as a Marker of Systemic Low-Grade Inflammation Is Not Associated with Steatotic Liver Disease in Adolescents: Insights from the EVA4YOU Study.

Metabolites
2026

Nurse-Led Secondary Prevention After Acute Coronary Syndrome: Bridging the Gender Gap in Cardiovascular Outcomes-A Sub-Analysis of the BEAT-HF Study.

Journal of cardiovascular development and disease
2026

Inappropriate ICD shock occurred 34 years after the last syncope in a symptomatic Brugada patient: does arrhythmia risk shift from VF to AF with age in Brugada syndrome?

BMJ case reports
2026

Bioaccessible sulforaphane attenuates oxidative stress-driven parainflammation in intestinal epithelial cells.

Food &amp; function
2026

A mixed-method analysis of health literacy and indicators of well-being in women with polycystic ovary syndrome across the lifespan.

Therapeutic advances in reproductive health
2026

Geriatric-Typical Characteristic Complexes Predict Short-Term Outcome of Proximal Humeral Fractures in Geriatric Patients.

Clinical interventions in aging
2026

An age-associated decline in the role of the sarcoplasmic reticulum and associated calcium-handling proteins sets the pace for sinoatrial node function.

The Journal of physiology
2026

Heart rate variability to objectively measure fear of falling in post fall patients: a protocol study.

BMC geriatrics
2026

Hippocampal Neuronal Ferroptosis Driven by Lipocalin-2 Mediates Comorbid Visceral Pain and Anxiety in Irritable Bowel Syndrome.

Molecular neurobiology
2026

Retinal BioAge is associated with indicators of cardiovascular-kidney-metabolic syndrome in UK and US populations.

Scientific reports
2026

Establishment and characterization of induced pluripotent stem cell lines from individuals with Down syndrome and age-matched euploid donors.

Stem cell research
2026

An intrinsic loop-mediated structural stability modulating inhibitor potency in the SADS-CoV and SARS-CoV-2 main proteases.

PLoS pathogens
2026

Takotsubo syndrome with left ventricular thrombus: Prevention of systemic thromboembolism.

Journal of cardiology cases
2026

Deficiency of Werner RecQ-type DNA helicase causes premature malnutrition in zebrafish.

iScience
2026

Transforming Cognitive Frailty to Later Life Self-Sufficiency (AGELESS) Study: Cohort Description and Bibliometric Analysis.

Asia-Pacific journal of public health
2026

Gestational Diabetes Mellitus and Adverse Maternal and Neonatal Health Outcomes: an Umbrella review of Meta-Analyses.

Obesity reviews : an official journal of the International Association for the Study of Obesity
2026

[Influence of age on oncology care].

La Revue du praticien
2026

Adults with Down syndrome display altered entrainment of occipital cortical neurons.

Brain communications
2026

Seawater pearl hydrolysate alleviates perimenopausal syndrome by modulating hypothalamic and uterine ERα/MAPK/CREB signaling in ovariectomized rats.

Frontiers in pharmacology
2026

The neural underpinnings of cognitive and postural profile of a young adult with congenital cerebellar athrophy: a longitudinal case report.

Frontiers in neuroscience
2026

Integration over reduction: multimodal PET and fluid biomarkers in Alzheimer's disease and beyond.

Current opinion in neurology
2026

Anticholinergic burden interacts with age and AIDS history to amplify frailty in people with HIV.

British journal of clinical pharmacology
2026

A new inducible mouse model of FH loss.

Methods in cell biology
2026

Antioxidant regulatory mechanisms of retinoic acid and its therapeutic potential in oxidative stress-related diseases.

Biochemical pharmacology
2026

Exploring potential mechanism of Chuanzhi Qingyu recipe for vulnerable atherosclerosis plaques based on UPLC-Q-TOF-MSE, systems biology strategy, and experimental validation.

Journal of pharmaceutical and biomedical analysis
2026

Characterizing Sleep-disordered Breathing by Race and Ethnicity: Phenotypes, Risk, and Clinical Implications: Part 2.

Sleep medicine clinics
2026

Characterizing Sleep-Disordered Breathing by Race and Ethnicity: Phenotypes, Risk, and Clinical Implications-Part 1.

Sleep medicine clinics
2026

Detection, imaging and quantification of phosphoinositides using ion chromatography suppressed conductivity and mass spectrometry imaging.

Methods in enzymology
2026

Sarcopenia: An overview of emerging therapies and pathophysiological insights in age-related skeletal muscle decline.

Biochemical pharmacology
2026

Sexual Dimorphism in the Development of Cardiometabolic Syndrome.

Handbook of experimental pharmacology
2026

Age-Stratified Differences in Cardio-Reno-Metabolic Risk Profiles.

Geriatrics (Basel, Switzerland)
2026

Interpretable Prediction of Late-Stage CKM Syndrome Association From Dietary Nutrients in Accelerated Aging Using SHAP and LIME.

Food science &amp; nutrition
2026

The microcephaly-associated protein YIPF5 differentially regulates ER export.

iScience
2026

Exploring osteosarcopenia from the gut microbiota perspective: mechanistic insights and therapeutic potentials based on the gut-muscle-bone Axis.

Frontiers in microbiology
2026

Insights Into Late-Onset Rheumatoid Arthritis (LORA): Characteristics (Clinical and Imaging), Comorbidities, and Therapeutic Targets.

Geriatrics &amp; gerontology international
2026

Analysis of Associated Factors and Construction of Risk Prediction Models for Frailty in Hospitalized Older Adults Living With HIV: Protocol for a Prospective Observational Study.

JMIR research protocols
2026

Long COVID-associated neurological symptoms and brain fog: Understanding the mechanism of neuroinflammation, BBB disruption, diagnostics, and therapeutics.

Molecular biology reports
2026

TSC2 GAP Domain V1646Cfs*7 Variant Alters Protein Stability and Interaction Networks in Tuberous Sclerosis Complex.

Neurology. Genetics
2026

Burden and Risk Factor Patterns of Reproductive System Tumors and Non-Tumor Diseases Among Asian Women, 1990-2021: Evidence from the GBD Study.

International journal of women's health
2026

Mixed primary progressive aphasia and alcohol use disorder: a case of detailed clinical phenotyping outperforming molecular imaging.

Neurocase
2026

Energy-sensing molecule RORγ regulates cholesterol metabolism and immune signaling in diabetic kidney disease and aging.

Nature communications
2026

[A pilot study on health issues, literacy, and presenteeism related to male menopause among working Japanese men].

Sangyo eiseigaku zasshi = Journal of occupational health
2026

Analysis of intracellular organelles in neurons differentiated from iPSCs of Chédiak-Higashi syndrome patients.

Pediatrics international : official journal of the Japan Pediatric Society
2026

Natriuretic peptide signaling as a therapeutic target in POTS: physiological opportunities and caveats.

Clinical autonomic research : official journal of the Clinical Autonomic Research Society
2026

Type 2 diabetes and risk of non-Hodgkin lymphoma and multiple myeloma: a pooled analysis.

JNCI cancer spectrum
2026

New horizons: disrupted brain energy metabolism as a driver of delirium.

Age and ageing
2026

Type 1 diabetes, ageing and frailty: an underexplored intersection.

Diabetologia

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Doenças relacionadas

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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.

  1. A Tale of Monozygotic Twins With Down Syndrome: Divergent Clinical Paths to Dementia.
    Neurology open access· 2026· PMID 41878379mais citado
  2. Neuropsychological aspects of impulse control disorders in Parkinson's disease.
    Frontiers in aging neuroscience· 2026· PMID 41878312mais citado
  3. Novel applications of machine learning and computational neuroscience models to neuroimaging in Parkinson's disease and related disorders.
    Frontiers in aging neuroscience· 2026· PMID 41878308mais citado
  4. [18F]Fluorodeprenyl-D2 PET as a Tool to Monitor Disease Activity in GAD65-Ab Autoimmune Encephalitis.
    Annals of clinical and translational neurology· 2026· PMID 41876947mais citado
  5. Tau pathology in epilepsy: emerging mechanisms and translational opportunities.
    Brain : a journal of neurology· 2026· PMID 41871415mais citado
  6. Malnutrition: an overlooked geriatric syndrome in older adults with type 2 diabetes.
    Aging Clin Exp Res· 2026· PMID 41863684recente
  7. Locomotive Syndrome Digital Therapeutics Provided via a Smartphone App: Proof-of-Concept Single-Group Trial Study.
    JMIR Aging· 2026· PMID 41824633recente
  8. Treating Genitourinary Syndrome of Menopause in Postmenopausal Women with a History of Breast Cancer.
    Drugs Aging· 2026· PMID 41758440recente
  9. Frailty trajectories and risk of incident advanced CKM syndrome: A national cohort analysis.
    Arch Gerontol Geriatr· 2026· PMID 41643295recente
  10. Age-related vs. disease-related: how perceptions of geriatric syndromes shape health-seeking behavior in older adults.
    BMC Geriatr· 2026· PMID 41629780recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:363665(Orphanet)
  2. OMIM OMIM:601812(OMIM)
  3. MONDO:0011150(MONDO)
  4. GARD:4276(GARD (NIH))
  5. Variantes catalogadas(ClinVar)
  6. Busca completa no PubMed(PubMed)
  7. Q55783230(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

Síndrome de acro - osteólise - lesões semelhantes a queloide - envelhecimento precoce
Compêndio · Raras BR

Síndrome de acro - osteólise - lesões semelhantes a queloide - envelhecimento precoce

ORPHA:363665 · MONDO:0011150
Prevalência
<1 / 1 000 000
Casos
5 casos conhecidos
Herança
Autosomal dominant
CID-10
E34.8 · Outros transtornos endócrinos especificados
Início
Infancy, Neonatal
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C1866182
Wikidata
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