Raras
Buscar doenças, sintomas, genes...
Síndrome marfanoide - cutis laxa
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Introdução

O que você precisa saber de cara

📋

A síndrome de De Barsy é uma doença genética rara autossômica recessiva. Os sintomas incluem cutis laxa, bem como outras anormalidades oculares, musculoesqueléticas e neurológicas. Geralmente é progressiva, manifestando efeitos colaterais que podem incluir córneas opacas, cataratas, baixa estatura, distonia ou progéria.

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
18
pacientes catalogados
Início
Infancy
+ neonatal
🏥
SUS: Cobertura mínimaScore: 35%
Centros em: PA, PE, BA, CE, PB +10CID-10: Q87.8
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (5)
0202010503
Cariótipo — bandas G, Q ou Rgenetic_test
0202010600
Pesquisa de microdeleções/microduplicações por FISHlab_test
0202010694
Sequenciamento completo do exoma (WES)rehabilitation
0202010260
Dosagem de alfa-fetoproteína
0301070040
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

🦴
Ossos e articulações
3 sintomas
❤️
Coração
3 sintomas
💪
Músculos
1 sintomas
🧬
Pele e cabelo
1 sintomas
🫃
Digestivo
1 sintomas

+ 3 sintomas em outras categorias

Características mais comuns

90%prev.
Luxação do quadril
Muito frequente (99-80%)
90%prev.
Contratura em flexão
Muito frequente (99-80%)
90%prev.
Pele redundante
Muito frequente (99-80%)
90%prev.
Enfisema
Muito frequente (99-80%)
90%prev.
Aracnodactilia
Muito frequente (99-80%)
90%prev.
Limitação da mobilidade articular
Muito frequente (99-80%)
12sintomas
Muito frequente (7)
Frequente (1)
Sem dados (4)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 12 características clínicas mais associadas, ordenadas por frequência.

Luxação do quadrilHip dislocation
Muito frequente (99-80%)90%
Contratura em flexãoFlexion contracture
Muito frequente (99-80%)90%
Pele redundanteRedundant skin
Muito frequente (99-80%)90%
EnfisemaEmphysema
Muito frequente (99-80%)90%
AracnodactiliaArachnodactyly
Muito frequente (99-80%)90%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Últimos 10 anos200publicações
Pico2026188 papers
Linha do tempo
2026Hoje · 2026
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

🧬

Nenhum gene associado encontrado

Os dados genéticos desta condição ainda estão sendo catalogados.

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 marfanoide - cutis laxa

Centros de Referência SUS

24 centros habilitados pelo SUS para Síndrome marfanoide - cutis laxa

Centros para Síndrome marfanoide - cutis laxa

Detalhes dos centros

Hospital Universitário Prof. Edgard Santos (HUPES)

R. Dr. Augusto Viana, s/n - Canela, Salvador - BA, 40110-060 · CNES 0003808

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital Infantil Albert Sabin

R. Tertuliano Sales, 544 - Vila União, Fortaleza - CE, 60410-794 · CNES 2407876

Serviço de Referência

Rota
Anomalias CongênitasDeficiência Intelectual

Hospital de Apoio de Brasília (HAB)

AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Estadual Infantil e Maternidade Alzir Bernardino Alves (HIABA)

Av. Min. Salgado Filho, 918 - Soteco, Vila Velha - ES, 29106-010 · CNES 6631207

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital das Clínicas da UFG

Rua 235 QD. 68 Lote Área, Nº 285, s/nº - Setor Leste Universitário, Goiânia - GO, 74605-050 · CNES 2338424

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital Universitário da UFJF

R. Catulo Breviglieri, Bairro - s/n - Santa Catarina, Juiz de Fora - MG, 36036-110 · CNES 2297442

Atenção Especializada

Rota
Anomalias Congênitas

Hospital das Clínicas da UFMG

Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário Julio Müller (HUJM)

R. Luis Philippe Pereira Leite, s/n - Alvorada, Cuiabá - MT, 78048-902 · CNES 2726092

Atenção Especializada

Rota
Anomalias Congênitas

Hospital Universitário João de Barros Barreto

R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário Lauro Wanderley (HULW)

R. Tabeliao Estanislau Eloy, 585 - Castelo Branco, João Pessoa - PB, 58050-585 · CNES 0002470

Atenção Especializada

Rota
Anomalias Congênitas

Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)

R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Pequeno Príncipe

R. Des. Motta, 1070 - Água Verde, Curitiba - PR, 80250-060 · CNES 3143805

Serviço de Referência

Rota
Anomalias CongênitasDeficiência Intelectual

Hospital Universitário Regional de Maringá (HUM)

Av. Mandacaru, 1590 - Parque das Laranjeiras, Maringá - PR, 87083-240 · CNES 2216108

Atenção Especializada

Rota
Anomalias Congênitas

Hospital de Clínicas da UFPR

R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário Pedro Ernesto (HUPE-UERJ)

Blvd. 28 de Setembro, 77 - Vila Isabel, Rio de Janeiro - RJ, 20551-030 · CNES 2280221

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF/Fiocruz)

Av. Rui Barbosa, 716 - Flamengo, Rio de Janeiro - RJ, 22250-020 · CNES 2269988

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital São Lucas da PUCRS

Av. Ipiranga, 6690 - Jardim Botânico, Porto Alegre - RS, 90610-000 · CNES 2232928

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital de Clínicas de Porto Alegre (HCPA)

Rua Ramiro Barcelos, 2350 Bloco A - Av. Protásio Alves, 211 - Bloco B e C - Santa Cecília, Porto Alegre - RS, 90035-903 · CNES 2237601

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário da UFSC (HU-UFSC)

R. Profa. Maria Flora Pausewang - Trindade, Florianópolis - SC, 88036-800 · CNES 2560356

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital das Clínicas da FMUSP

R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital de Base de São José do Rio Preto

Av. Brg. Faria Lima, 5544 - Vila Sao Jose, São José do Rio Preto - SP, 15090-000 · CNES 2079798

Atenção Especializada

Rota
Anomalias Congênitas

Hospital de Clínicas da UNICAMP

R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital de Clínicas de Ribeirão Preto (HCRP-USP)

R. Ten. Catão Roxo, 3900 - Vila Monte Alegre, Ribeirão Preto - SP, 14015-010 · CNES 2082187

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

UNIFESP / Hospital São Paulo

R. Napoleão de Barros, 715 - Vila Clementino, São Paulo - SP, 04024-002 · CNES 2688689

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo
Sobre os centros SUS: Estes centros são habilitados pelo Ministério da Saúde como Serviços de Referência em Doenças Raras ou Serviços de Atenção Especializada. O atendimento é pelo SUS, com encaminhamento da rede de atenção básica.

Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.

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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

Epidemiology and molecular characterization of lumpy skin disease virus in cattle in the Poro Region of Ivory Coast.

Frontiers in veterinary science2026

Lumpy skin disease (LSD) threatens cattle health and productivity in Ivory Coast, where limited resources for livestock management hinder disease control. Moreover, the lack of studies on its prevalence and genetic profile leaves critical gaps in understanding its epidemiology and local risk factors. This study addresses these gaps by investigating LSD viruses' prevalence, its molecular characteristic and the associated risk factors among cattle in the Poro Region of northern Ivory Coast. Using a cross-sectional design, nodule and nasal swab samples were collected from 405 cattle across 36 villages between September 2023 and December 2024 based on syndromic surveillance. The samples were analyzed PCR to confirm LSD virus presence, followed by sequencing of four viral genes: RPO30, GPCR, EEV glycoprotein, and B22R. Overall, LSD prevalence among cattle showing pox-like lesions and clinical symptoms was found to be 51.85% and varied significantly across localities, reaching 66.67% in M'bengué and 70.87% in Dikodougou. Larger herds (over 50 cattle) had a higher prevalence (76.51%) compared to smaller herds (34.72%), and transhumant herds showed increased prevalence (p < 0.001). No significant associations were identified between sex, age, or breed. Phylogenetic analysis indicated that the Ivory Coast LSDV strains clusters with other African field strains, distinct from South-East Asian and Russian recombinants. The present study shows a notable regional difference in the prevalence of LSD in cattle in Ivory Coast, with big and transhumant herds having a higher prevalence rate making the herd size and movement a major risk factor. Molecular analysis demonstrated that Ivory Coast LSD strains are in the same group with other strains found in the African field, indicating that it is necessary to take control measures within the region and provide further surveillance.

#2

IVNS1ABP mutation drives cellular senescence in newly identified progeroid neuropathy.

Nature communications2026 Mar 19

We identified a new progeroid syndrome with severe neuropathy and intellectual deficits but its underlying cellular and molecular mechanism is unknown. Exome sequencing revealed a homozygous mutation in the IVNS1ABP gene, which encodes IVNS1ABP, an influenza virus non-structural protein-1 binding protein. To investigate disease mechanisms, we generated isogenic induced pluripotent stem cells (iPSCs) from patient fibroblasts and differentiated them into neural progenitor cells (NPCs). Mutant IVNS1ABP fibroblasts, iPSCs, and NPCs exhibited defective cytokinesis, increased DNA damage, and premature cellular senescence. Consistent with these findings, cerebral organoids showed early differentiation of NPCs into neurons. Molecular profiling as well as biochemical and cellular analysis revealed altered binding of mutant IVNS1ABP to actin / actin-associated proteins and dysregulated actin dynamics during cytokinesis. Taken together, we propose that mutant IVNS1ABP dysregulates actin polymerization and organization which is at least partly responsible for the cellular senescence phenotypes in this progeroid neuropathy.

#3

Diet-induced dampness-heat psoriasis is characterized by reduced Lactobacillus and accumulation of deoxycholic acid.

Frontiers in cellular and infection microbiology2026

Psoriasis is a common immune-mediated skin disease influenced by environmental and dietary factors. In traditional Chinese medicine (TCM), endogenous dampness-heat syndrome, often induced by diets rich in stimulating foods, is considered a trigger that aggravates psoriasis. However, the underlying mechanisms remain unclear. This study investigated the gut microbiota and metabolic alterations associated with endogenous dampness-heat syndrome in psoriasis. BALB/c mice were fed a stimulating food diet to establish a model of endogenous dampness-heat syndrome, followed by the induction of psoriasis-like dermatitis by applying imiquimod. Mice on a standard diet served as disease controls and healthy controls. Characteristics of the gut microbiota were analyzed by 16S rDNA sequencing. UPLC-MS/MS was used to detect metabolic changes in the feces and serum of mice and to quantify multiple bile acids. Lipid accumulation and bile acid content in the liver were evaluated by Oil Red O staining and total bile acid assays. Endogenous dampness-heat modeling aggravated psoriasis-like symptoms in mice. This was accompanied by marked dysbiosis of the gut microbiota, characterized by reduced abundance of Lactobacillus and Bacteroides. Serum and fecal metabolomics revealed prominent alterations in bile acid metabolism, closely associated with the reduction in Lactobacillus. Targeted quantification confirmed elevated deoxycholic acid in serum, together with increased total bile acids and lipid deposition in the liver. The expression of FXR in bile acid pathway in the liver was decreased, while the expression of CYP7A1 was increased. The exacerbation of skin lesions and hepatic lipid deposition in endogenous dampness-heat pattern psoriasis may be associated with bile acid imbalance and reduced Lactobacillus levels.

#4

Targeted neurological screening for RFC1-related disease in unexplained chronic cough.

Journal of neurology2026 Mar 16

Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS) is caused by biallelic pathogenic repeat expansions in the RFC1 gene. Chronic cough can precede the neurological features of CANVAS by decades and, in some instances, may be the sole clinical manifestation. However, the prevalence of biallelic RFC1 repeat expansions among patients with unexplained chronic cough (UCC), as well as the diagnostic utility of targeted neurological screening in this setting, remains unclear. In this 6-month pilot study, 13 consecutive patients with UCC underwent a standardized neurological evaluation and screening nerve conduction studies (NCS) during a single clinical visit. All patients were subsequently tested for RFC1 repeat expansions. Those carrying biallelic pathogenic expansions (RFC1+) were further assessed with extended NCS, electrochemical skin conductance (ESC), and thermal quantitative sensory testing (QST). Three patients (23%) were RFC1+. Clinical and demographic features did not significantly differ between RFC1+ and RFC1- groups. All RFC1+ individuals exhibited marked bilateral reduction in radial and sural sensory nerve action potential (SNAP) amplitudes. In contrast, only two RFC1- patients showed reduced sural SNAPs. QST revealed impaired cold detection thresholds with preserved warm detection in all RFC1+ cases, while ESC results were normal. These findings suggest that standardized neurological and electrophysiological assessment can detect subclinical sensory neuropathy in UCC patients lacking overt neurological symptoms, thereby identifying those more likely to carry RFC1 expansions. The observed 23% prevalence supports incorporating RFC1 testing into the diagnostic approach for selected UCC patients, particularly when radial SNAP amplitudes are reduced.

#5

Tuberous sclerosis complex.

Nature reviews. Disease primers2026 Mar 12

Tuberous sclerosis complex (TSC) is a rare genetic disease caused by heterozygous loss-of-function variants in TSC1 or TSC2. Patients present with benign tumours known as hamartomas in the brain, eyes, lungs, kidneys, heart and skin. Many hamartomas contain mosaic second hit variants in TSC1 or TSC2. The most disabling features of TSC include epilepsy and TSC-associated neuropsychiatric disorders (TAND) such as intellectual disability and autism spectrum disorder. Remarkable progress has been made both in understanding the pathogenesis of TSC and in its clinical management, largely due to the discovery of the link between TSC1 and TSC2 and the mechanistic target of rapamycin (mTOR) signalling pathway. TSC1 and TSC2 form a protein complex that inhibits mTOR. Naturally occurring inhibitors of mTOR (rapamycin) and its analogues, collectively known as rapalogues, have been used to test various hypotheses in preclinical models and are approved for the treatment of several manifestations of TSC. Approved drug treatments (rapalogues) exist for subependymal giant cell astrocytomas, renal angiomyolipomas, pulmonary lymphangioleiomyomatosis, facial angiofibromas and refractory seizures. However, there is still an unmet need for effective treatment of TAND and refractory epilepsy, despite the available medical and surgical options.

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Safety of Concurrent Systemic Therapy and Total Skin Electron Therapy in Cutaneous T-Cell Lymphoma.

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Growth Guidance Surgery: Factors Associated With Complications.

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Myeloid dermatosis with features of sweet syndrome and leukemia cutis: a case report.

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When Foot Drop Tells a Bigger Story: POEMS (Polyneuropathy, Organomegaly, Endocrinopathy, Monoclonal Plasma Cell Disorder, and Skin Changes) Syndrome Revealed by Femoral Plasmacytoma.

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Chemotherapy and the Skin: Understanding Dermatologic Side Effects.

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Atypical Polyneuropathy, Organomegaly, Endocrinopathy, Monoclonal Protein, and Skin Changes (POEMS) Syndrome.

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Clinical Findings, Antibody Panel and Pathology of Patients with Inflammatory Myopathies in Isfahan Province, Iran.

Advanced biomedical research
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Epidemiology and molecular characterization of lumpy skin disease virus in cattle in the Poro Region of Ivory Coast.

Frontiers in veterinary science
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Increased Risk of Melanoma and Basal Cell Carcinoma in Patients with Sjogren's Syndrome: A Nested Case-Control Study.

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Tetrahedral framework nucleic acid delivery of emodin enables precision antibacterial and anti-inflammatory therapy for drug-resistant Staphylococcus aureus.

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The pathogenic ADAMTSL2 D167N variant causes geleophysic dysplasia-like connective tissue changes in mice.

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Genotype-phenotype correlation and challenges in mutation detection in McCune-Albright syndrome: a retrospective study of a French cohort.

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Deployment of an Activity Monitoring Program to Complement a Clinical Intervention for Veterans With Gulf War Illness: Qualitative Study.

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A Rash Decision: Mycoplasma-Induced Mucositis in a Young Adult.

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Body Under Attack: Disseminated Varicella-Zoster Virus Infection.

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Mogamulizumab-associated lymphadenopathy masquerading as lymphoma progression.

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Efficacy and safety of a new cladribine-based conditioning regimen for allogeneic hematopoietic stem cell transplantation in children with relapsed or refractory acute myeloid leukemia.

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Case Report: Fatal Streptococcus pyogenes infection secondary to closed femoral fracture.

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Blau syndrome with atrophoderma vermiculata-like appearance: a case report.

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A laboratory micro-CT technique is useful to visualize and characterize dermal skin components in a 3D manner.

Experimental and therapeutic medicine
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Secukinumab-Induced Delayed Behçet-Like Reaction in a Patient with Plaque Psoriasis: A Case Report.

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IVNS1ABP mutation drives cellular senescence in newly identified progeroid neuropathy.

Nature communications
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Artificial Intelligence-Based Diagnosis of Kaposi Sarcoma Using Digital Photographs in Dark-Skinned Patients in Uganda.

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Fatal refractory chronic active Epstein-Barr virus infection with hemophagocytic lymphohistiocytosis and NK/T-cell lymphoma: a case report.

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A Decade-Long Journey of Steroid-Dependent IgA Nephropathy with Minimal Change Disease from Immunosuppressants to Rituximab and then to Obinutuzumab: A Case Report.

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Effectiveness of Custom-Made Mouthpieces in the Prevention of Diver's Mouth Syndrome (DMS).

European journal of dentistry
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Nonconventional MYC-Positive Primary Cutaneous Angiosarcoma: Novel or Untested.

The American Journal of dermatopathology
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Checkerboard Hyperkeratosis With Apoptotic Keratinocytes as Features of Mechanic's Hands and Review of the Literature.

The American Journal of dermatopathology
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Implications of Dermatologic Disorders in Facial Cosmetic Surgery: A Systematic Review.

Annals of plastic surgery
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Diet-induced dampness-heat psoriasis is characterized by reduced Lactobacillus and accumulation of deoxycholic acid.

Frontiers in cellular and infection microbiology
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Oritavancin as rescue therapy in severe methicillin-resistant Staphylococcus aureus pneumonia: A case report.

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Autologous fat grafting in a case of Parry-Romberg syndrome: a case report.

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Sintilimab-induced toxic epidermal necrolysis complicated in advanced gastric cancer: a case report and literature review.

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A Study of Cutaneous Manifestations in Patients During the Post-COVID Period in A Tertiary Care Center.

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Three Yemeni Siblings With Johanson-Blizzard Syndrome: A Case Report and Literature Review.

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Prevention of Pressure Injuries During Nasal Continuous Positive Airway Pressure in Newborns: A Non-pharmacological Intervention Trial.

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Targeted neurological screening for RFC1-related disease in unexplained chronic cough.

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Utility of the Early Sjögren Antibody Panel as a Diagnostic Marker for Sensory Neuropathy.

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[Tongdu Jieyu acupuncture combined with local surrounding needling for 34 cases of melasma with liver qi stagnation].

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Case Report: Morphologically striking eruptive xanthomas with lobulated papules: a sentinel sign of severe metabolic dysregulation.

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Muir-Torre Syndrome: A Rare Case Report and Review of Literature.

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Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents.

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Implications of Glomus Tumor Pathology and Pain Mechanism for Surgical Treatment.

Annali italiani di chirurgia
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An Unusual Presentation of Nicolau Syndrome in the Upper Limb: A Case Report from Northern Ecuadorian Amazonia.

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[Fungal food allergy syndrome: A rare cause of anaphylaxis].

Revue des maladies respiratoires
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The impact of peripheral nerve injuries on burn outcomes from the Burn Care Quality Platform.

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In which step should abdominal wall skin incision be made in percutaneous endoscopic gastrostomy procedure?: A retrospective comparative study.

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Soft Tissue Reconstruction With Synthetic Electrospun Fiber Matrix Following Musculoskeletal Injury: A Retrospective Case Series.

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Disseminated iatrogenic upper gastrointestinal Kaposi sarcoma following prolonged steroid use in a patients with Crohn's disease: a case report.

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Beyond the Target: Re-Emergence of Mycoplasma pneumoniae Supports Reclassification of Adult Mucocutaneous Eruptions.

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Nature reviews. Disease primers
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"The Cancer that Carried the Chalk"-NXP2+ Paraneoplastic Dermatomyositis Unleashing Calcinosis Cutis and Peripheral Neuropathy.

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The overlap of ANCA associated vasculitis with Sjögren's syndrome in elderly male patient: a case report and literature review.

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A rare case of Mayer-Rokitansky-Küster-Hauser syndrome presenting with primary amenorrhea and chronic headaches: a case report.

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Congenital Volkmann ischemic contracture in an African neonate: a case report.

International journal of surgery case reports
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NEMO-NDAS: Case Report and Review of the Literature.

Pediatric dermatology
2026

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

Nephrologie &amp; therapeutique
2025

[Analysis of clinical features and genetic variants in a Chinese pedigree affected with Spondyloepiphyseal dysplasia type Ehlers-Danlos syndrome due to variants of B3GALT6 gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
2026

Compliance of Dermatology Screening Visits Among Patients With Skin Cancer-Predisposing Pathogenic Variants.

JEADV clinical practice
2026

Dyskeratosis Congenita: Clinical Phenotype and Genetic Features in a Sibling Pair.

Clinical, cosmetic and investigational dermatology
2026

Founder effect and clinical heterogeneity of SLC27A4-related non-syndromic EDD in Réunion.

Journal of the European Academy of Dermatology and Venereology : JEADV
2026

Oculocutaneous albinism variants in 28 consanguineous families and functional classification of a pathogenic deep intron variant in TYR.

European journal of human genetics : EJHG
2026

Nail Disorders in Children With Down Syndrome: A Multicenter Study.

Pediatric dermatology
2025

A Rare Case of Paraneoplastic Raynaud's Phenomenon and Uveal Melanoma.

Acta dermatovenerologica Croatica : ADC
2025

Monkeypox Among Patients on PrEP - a Case Report.

Acta dermatovenerologica Croatica : ADC
2026

Mycosis fungoides/Sézary syndrome and systemic Janus kinase inhibitors: a real-world retrospective study on behalf of the EORTC-CLTG.

The British journal of dermatology
2026

Neonatal KLHL24-Associated Epidermolysis Bullosa Simplex: Clinical Presentation and Genetic Confirmation of a Rare Skin Fragility Syndrome.

Pediatric dermatology
2026

Skin hypersensitivity in chronic cough patients: symptom profiles and psychosomatic correlates.

Annals of medicine
2026

Reversal of rare paraneoplastic syndromes in melanoma: fever and cutaneous melanosis.

Melanoma research
2026

Efficacy and safety of common Chinese herbal medicines in treating psoriasis: a systematic review and meta-analysis.

Frontiers in pharmacology
2026

The Th17/Treg axis: a key to understanding and treating autoimmune disorders.

Open life sciences
2026

Integrative epigenetic and transcriptomic profiling of whole blood and fibroblasts in Hao-Fountain syndrome.

Frontiers in cell and developmental biology
2026

Case Report: Successful management of refractory SAPHO syndrome with guselkumab-upadacitinib combination.

Frontiers in immunology
2026

Novel Integration of Extracorporeal Membrane Oxygenation and Continuous Renal Replacement Therapy in Pediatric Patients With Severe Burns: A Case Report.

Cureus
2026

Case of a genodermatosis presenting with verrucous lesions mimicking treatment-refractory warts.

JAAD case reports
2026

Idiopathic multifocal calcinosis cutis presenting in a cat with vestibular syndrome: clinical, radiographic and histopathological findings.

JFMS open reports
2026

Do different organ involvements cause different comorbidity profiles in Behçet's syndrome?

Postgraduate medicine
2026

Momordin Ic alleviates inflammation and skin barrier dysfunction of atopic dermatitis in vitro and in vivo.

Journal of ethnopharmacology
2026

Microneedle-based delivery of cell membrane vesicles as IL-17RA decoys for Psoriasis treatment.

Journal of nanobiotechnology
2026

Skin involvement is among the leading findings in children with inborn errors of immunity.

Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology
2026

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

Orvosi hetilap
2026

Increased Prevalence of Extrathymic Neoplasms in Myasthenia Gravis Patients-A Population-Based, Matched Case-Control Study.

Muscle &amp; nerve
2026

A Novel Model System to Identify Cellular and Molecular Defects Underlying Rare Genetic Disorders.

Experimental dermatology
2026

Contact Urticaria to Chamois (Rupicapra rupicapra) Raw Muscle Meat in a Non-Occupational Hunter: First Documented Case.

Contact dermatitis
2026

SCORTEN and Novel Prognostic Markers in Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis: A Systematic Review and Meta-Analysis.

The Australasian journal of dermatology
2026

Safety and efficacy of blinatumomab in the treatment of refractory systemic sclerosis: a case series.

Annals of the rheumatic diseases
2026

[Postthrombotic syndrome: an update].

Dermatologie (Heidelberg, Germany)
2026

Case report: the unusual association of Kartagener's syndrome and systemic lupus erythematosus.

Annals of medicine and surgery (2012)
2026

Case Report: CYLD cutaneous syndrome with malignant transformation to spiradenocarcinoma: cooperative effects of CYLD truncation and an MSH2 clamp-domain variant in an Ecuadorian patient.

Frontiers in medicine
2026

Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis: A Systematic Review of Cases Secondary to Topical Medications.

The Australasian journal of dermatology
2026

HaloTag-based approach to quantify subcellular localization of TRPV3 channels.

Biophysical journal
2026

Giant cell arteritis-polymyalgia rheumatica spectrum disease (GPSD): Relation with neoplasms and possible role as a paraneoplastic syndrome.

Reumatologia clinica
2025

Emergent endovascular parent artery occlusion for type 3 carotid blowout syndrome after charged particle therapy for recurrent maxillary carcinoma: a case report and literature review.

Turkish neurosurgery
2026

Oncostatin M receptor deficiency as a novel candidate genetic cause of autosomal recessive hyper-IgE syndrome.

Journal of human immunity
2026

[Toxic Epidermal Necrolysis: Study of an 81-case Series].

Annals of burns and fire disasters
2026

Horns, nails, and leaky kidneys: A rare case of congenital nephrotic syndrome.

Clinical nephrology. Case studies
2026

Potential infliximab-induced Kounis syndrome in a patient with metastatic melanoma.

Allergologie select
2026

Classifying novel DSG1 variants on disease severity in SAM syndrome and palmoplantar keratoderma.

Journal of dermatological science
2026

Part I. The role of Staphylococcus aureus in the pathophysiology of dermatologic disease.

Journal of the American Academy of Dermatology
2026

Progerin expression in humans: Implications for natural ageing.

Mechanisms of ageing and development
2026

Distal arthrogryposis with impaired proprioception and touch: description of 9 additional cases harbouring novel PIEZO2 variants and literature review.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
2026

A systems perspective on rare diseases: integrating human phenotype ontology with the Anukta framework of Ayurveda.

Journal of Ayurveda and integrative medicine
2026

Targeting non-canonical NF-κB signalling in CYLD cutaneous syndrome by selective inhibition of IκB kinase alpha.

The British journal of dermatology
2026

Scalp Reconstruction With a Synthetic Dermal Substitute After Cylindroma Excision in Brooke-Spiegler Syndrome.

Plastic and reconstructive surgery. Global open
2026

Prediction of antibiotic-associated cutaneous adverse drug reactions using electronic health record foundation models.

NPJ digital medicine
2026

Prenatally Diagnosed Beare-Stevenson Cutis Gyrata Syndrome With a Novel FGFR2 Variant.

Prenatal diagnosis
2026

Patients with Ehlers-Danlos syndrome experience reduced effectiveness of lidocaine local anesthetic: a randomized cross-over clinical trial.

Regional anesthesia and pain medicine
2026

[Shulman syndrome: An atypical presentation of a rare disease].

Revista medica del Instituto Mexicano del Seguro Social
2026

Secondary primary malignancies in indolent non-Hodgkin lymphoma patients receiving frontline bendamustine-rituximab.

Cancer
2026

Mapping malignant T-cell states and immune circuits in Sézary syndrome by single-cell analysis.

Journal of the European Academy of Dermatology and Venereology : JEADV
2026

Orbital Abscess in an Infant With STAT3 Hyper-IgE Syndrome.

Ophthalmic plastic and reconstructive surgery
2026

Soluble Fas Ligand, an overlooked target of therapy in dermatological and non-dermatological conditions.

The Journal of dermatological treatment
2026

Multiple Skin Adnexal Tumours with Possible Syndromic Association.

Cureus
2026

Invasive Pulmonary Aspergillosis in a Young Adult With Hyperimmunoglobulin E Syndrome and Hypogammaglobulinemia Following Rituximab Therapy.

Cureus
2026

Renal Ultrasound in Patients With Preauricular Skin Tags: Is It Necessary and Who Needs It?

Plastic surgery (Oakville, Ont.)
2026

Associations Between Reproductive Disorders and Specific Physical, Mental, Personality, and Social Characteristics: A Narrative Review.

Health science reports
2026

Twin paradox: Monoamniotic twin pregnancy discordant for limb body wall complex: Presentation of a rare syndrome with a review of embryology.

Ultrasound (Leeds, England)
2026

Postural Orthostatic Tachycardia Syndrome Presenting With Recurrent Syncope After Cervical Spinal Cord Injury.

Clinical case reports
2026

From static pathology to dynamic immunity: immunological plasticity and histopathological remodeling in atopic dermatitis and psoriasis.

Frontiers in immunology
2026

Weathering the Storm: Legacies of Extreme Meteorological Events and Daily Weather Variability Shape the Skin Microbiota of the Endangered Golden Alpine Salamander Salamandra atra aurorae (Trevisan, 1982).

Ecology and evolution
2026

Bilateral Eyelid Agenesis With Multiple Congenital Ocular Anomalies in an Australian Labradoodle Puppy: Case Report and Surgical Management.

Veterinary ophthalmology
2026

A rare drug reaction: Toxic epidermal necrolysis following polymyxin B administration in a post-Bentall procedure.

Indian journal of pharmacology
2026

Eosinophilic Fasciitis in Pediatric Patients: A Rare but Distinct Autoimmune Fibrosing Disorder.

Pediatrics in review
2026

Understanding Cutaneous Sensory Syndromes: Diagnostic challenges and therapeutic implications.

Clinical and experimental dermatology
2026

A comprehensive literature-based analysis of prognosis in patients with Cronkhite-Canada syndrome.

Digestion
2026

Upper Limb Edema as Predictor of Difficult Peripheral Intravenous Cannulation.

Journal of infusion nursing : the official publication of the Infusion Nurses Society
2026

Spatial transcriptomics reveals mechanism of autoimmunity driven by internalized autoantibodies.

medRxiv : the preprint server for health sciences
2026

Management of mild hand-foot syndrome associated with medical cancer therapies with an alcohol-free moisturizing and reparative gel containing omental lipids, urea, bromelain, and carnosine: a pilot prospective 12-week study.

Dermatology reports
2026

Papillon-Lefèvre syndrome with excellent response to risankizumab.

Dermatology reports
2026

The role of a multidisciplinary approach in non-melanoma skin cancer management.

Dermatology reports
2026

A Retrospective Cohort Study on HHV-8 Viral Load and Prognosis in HIV-Associated Kaposi Sarcoma Among People Living with HIV in Japan.

Viruses
2026

Evidence on Measures for the Prevention of Pressure Injuries in Mechanically Ventilated Patients in Prone Positioning: A Systematic Review.

Healthcare (Basel, Switzerland)
2026

Reactive Infectious Mucocutaneous Eruption (RIME) Associated with Mycoplasma pneumoniae: Clinical and Immunological Insights from Pediatric Cases.

Microorganisms
2026

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

Cancers
2026

Modestly Increased Incidence of Irritable Bowel Syndrome in Hidradenitis Suppurativa: A Retrospective Cohort Study Using TriNetX.

International journal of dermatology
2026

Intravenous immunoglobulin as a therapy for severe or steroid-recalcitrant erythema multiforme major: a case series.

Clinical and experimental dermatology
2026

Multilineage differentiation drives hamartoma formation in large-to-giant congenital melanocytic naevi: evidence for naevocyte multipotency.

The British journal of dermatology
2026

Metagenomic and Genomic Analyses Reveal Prevalent Spread and Evolution of the Bat White-Nose Pathogen Pseudogymnoascus destructans in Western Canada.

Journal of fungi (Basel, Switzerland)
2025

Clopidogrel-induced drug-induced hypersensitivity syndrome following percutaneous coronary intervention: a case report of therapeutic dilemma and management strategy.

Frontiers in pharmacology
2026

Group A β-hemolytic streptococcus causing purpura fulminans: two case reports.

Frontiers in immunology
2026

Physiological correlates and predictors of vasovagal responses following dry needling in myofascial pain syndrome: a controlled observational study.

Therapeutic advances in musculoskeletal disease
2025

Arteriopathies: Too big to be true.

Annals of pediatric cardiology
2026

Hidden Drug Rash With Eosinophilia and Systemic Symptoms (DRESS): A Rare Case of Preceding Organ Damage Before Skin Manifestations.

Clinical case reports
2026

Mucocutaneous Findings and Endocrinopathies in Children with Turner Syndrome: A Cross-Sectional Study.

Journal of clinical research in pediatric endocrinology
2026

Tackling the diagnosis of HA20 in children: challenges of a highly variable clinical and genetic spectrum.

RMD open
2026

Monoclonal gammopathies of cutaneous significance: A nomenclature and pathophysiology-based classification.

Journal of the American Academy of Dermatology
2026

SIGNIFIED: whole-body MRI screening in Li-Fraumeni syndrome in the UK.

ESMO open
2026

Clinical Spectrum of Cutaneous, Ocular, and Hair Manifestations in Patients With Inborn Errors of Immunity: Insights From a Single Center in Turkey.

Immunity, inflammation and disease
2025

Activation of NF-κB signaling in tissue-resident memory T cells promotes recurrent psoriasis in mice.

Frontiers in immunology
2026

Consensus recommendations for testing of Chlamydia trachomatis, Neisseria gonorrhoeae, Trichomonas vaginalis, and Mycoplasma genitalium infections in the Asia-Pacific (APAC)-modified Delphi method.

International journal of STD &amp; AIDS
2026

Phenotypic description of a large French series of individuals with Potocki-Lupski syndrome.

Journal of medical genetics
2026

DNA Damage and Skin Injuries Caused by Ionizing Radiation and Strategies for Wound Healing.

Progress in molecular and subcellular biology
2026

Ultrasound-guided cooled radiofrequency ablation for sacroiliac joint pain in a patient with PsAPASH syndrome: A case report.

Interventional pain medicine
2026

Short-term efficacy of intense pulsed light in the treatment of hordeolum: A prospective cohort study.

Medicine
2026

Stevens-Johnson syndrome/toxic epidermal necrolysis induced by sintilimab in a patient with advanced non-small cell lung cancer: A case report.

Medicine
2026

Developmental, but not Homeostatic, Collagen V Expression Regulates Mature Murine Supraspinatus Tendon Structure, Function, and Gene Expression.

Journal of orthopaedic research : official publication of the Orthopaedic Research Society
2026

Glucagon-Like Peptide-1 Receptor Agonists as Adjunctive Therapy for Hidradenitis Suppurativa in Patients With Overweight/Obesity: A Narrative Review of Efficacy, Safety, and Quality-of-Life Outcomes.

International journal of dermatology
2026

Improved Detection of Myositis-Specific Autoantibodies Using Luciferase Immunoprecipitation Systems Assay: Comparison with Line Blot and Conventional Immunoprecipitation.

Arthritis &amp; rheumatology (Hoboken, N.J.)
2026

Case Report: Upadacitinib for SAPHO syndrome with biologics-induced paradoxical manifestation and Hyperimmunoglobulinemia E.

Frontiers in immunology
2026

Real-world study of use patterns and clinical outcomes for patients with myelodysplastic syndrome initiating oral decitabine and cedazuridine or intravenous/subcutaneous hypomethylating agents.

Therapeutic advances in hematology
2025

Trigeminal trophic syndrome.

Dermatology online journal
2025

Stevens-Johnson syndrome as the presenting manifestation of human immunodeficiency virus and syphilis coinfection.

Dermatology online journal
2026

Regional oximetry for diagnosing compartment syndrome: a scoping review.

Journal of orthopaedic surgery and research
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

Fragile foal syndrome: manifestations, heterozygous advantage and the future of breeding policies.

Journal of equine veterinary science
2026

Bowel-Associated Dermatosis and Arthritis Syndrome (BADAS) - A Literature Review With Diagnostic and Therapeutic Implications and a Report of Two Cases of BADAS Associated With Inflammatory Bowel Disease.

Archivum immunologiae et therapiae experimentalis
2026

Cutaneous α-Synuclein Pathology as a Differential Marker: A Histological and Statistical Comparison across Neurodegenerative Disease Groups.

Journal of molecular neuroscience : MN
2026

Evaluation of Helicobacter pylori infection and clinical features in multiple sclerosis patients coexisting with vitiligo: Case-series.

Journal of the National Medical Association
2026

Imaging-Based Diagnosis of a Ruptured Isolated Dissecting Abdominal Aortic Aneurysm: A Case Report.

Reports (MDPI)
2026

5α-Reductase Isoenzymes: From Neurosteroid Biosynthesis to Neuropsychiatric Outcomes.

NeuroSci
2026

Skin deep: dermatologic challenges in PCOS through the female lifespan.

Expert review of endocrinology &amp; metabolism
2026

Impact of skin flap elevation technique on the extent of gustatory sweating after superficial parotidectomy: a comparative study.

BMC surgery
2026

A case report of neurosarcoidosis mimicking Guillain-Barré syndrome: the diagnostic utility of skin biopsy in neurosarcoidosis.

BMC neurology
2026

Bispecific T cell engagers for treatment-refractory autoimmune connective tissue diseases.

Nature medicine
2026

Inhibition of RIPK1 prevents keratinocyte cell death and reduces skin inflammation in type 1-mediated chronic inflammatory skin diseases.

The Journal of allergy and clinical immunology
2026

Phenotypic clustering in adult SAPHO syndrome: A multicenter retrospective study of 102 patients.

Journal of the American Academy of Dermatology
2026

Interstitial cystitis: a phenotype and rare variant exome sequencing study.

EBioMedicine
2026

Diffuse Dermal Angiomatosis of the Breast Presenting as Diffuse Erythema Mimicking Inflammatory Breast Carcinoma in a Healthy Pregnant Patient.

The American Journal of dermatopathology
2026

Laser therapy: palliative care for the Harlequin syndrome?

Einstein (Sao Paulo, Brazil)
2026

Mycosis fungoides and Sézary syndrome.

British journal of haematology
2026

Case Report: Early-onset VEXAS syndrome with recurrent pulmonary inflammation and myelodysplasia: a diagnostic and therapeutic challenge.

Frontiers in immunology
2026

Posterior Fossa Sinking Skin Flap Syndrome Presenting With Orthostatic Vertigo After Decompressive Craniectomy: A Case Report.

Cureus
2026

Omadacycline - Associated Anticardiolipin Antibody Positivity and Hypercoagulable State: A Case Report and Review of Tetracycline - Induced Immune Dysregulation.

Infection and drug resistance

Associações

Organizações que acompanham esta doença — pra ter apoio e orientação

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Comunidades

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Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

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. Epidemiology and molecular characterization of lumpy skin disease virus in cattle in the Poro Region of Ivory Coast.
    Frontiers in veterinary science· 2026· PMID 41868404mais citado
  2. IVNS1ABP mutation drives cellular senescence in newly identified progeroid neuropathy.
    Nature communications· 2026· PMID 41857046mais citado
  3. Diet-induced dampness-heat psoriasis is characterized by reduced Lactobacillus and accumulation of deoxycholic acid.
    Frontiers in cellular and infection microbiology· 2026· PMID 41847438mais citado
  4. Targeted neurological screening for RFC1-related disease in unexplained chronic cough.
    Journal of neurology· 2026· PMID 41840142mais citado
  5. Tuberous sclerosis complex.
    Nature reviews. Disease primers· 2026· PMID 41820375mais citado
  6. [Shulman syndrome: An atypical presentation of a rare disease].
    Rev Med Inst Mex Seguro Soc· 2026· PMID 41774868recente
  7. Trigeminal trophic syndrome.
    Dermatol Online J· 2025· PMID 41725480recente
  8. Bowel-Associated Dermatosis and Arthritis Syndrome (BADAS) - A Literature Review With Diagnostic and Therapeutic Implications and a Report of Two Cases of BADAS Associated With Inflammatory Bowel Disease.
    Arch Immunol Ther Exp (Warsz)· 2026· PMID 41722086recente
  9. Excited Skin Syndrome (Angry Back), What Do We Know About It? A Review of the Literature.
    J Cosmet Dermatol· 2026· PMID 41664523recente
  10. Clinical Presentation of Shoulder-Hand Syndrome: A Systematic Review.
    Eur J Pain· 2026· PMID 41637667recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:171719(Orphanet)
  2. OMIM OMIM:614100(OMIM)
  3. MONDO:0013574(MONDO)
  4. GARD:17069(GARD (NIH))
  5. Busca completa no PubMed(PubMed)
  6. Q55784162(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 marfanoide - cutis laxa
Compêndio · Raras BR

Síndrome marfanoide - cutis laxa

ORPHA:171719 · MONDO:0013574
Prevalência
<1 / 1 000 000
Casos
18 casos conhecidos
CID-10
Q87.8 · Outras síndromes com malformações congênitas especificadas, não classificadas em outra parte
CID-11
Início
Infancy, Neonatal
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C0432335
Wikidata
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