Uma síndrome raríssima que se caracteriza pela combinação variável de três manifestações: unhas amareladas, problemas respiratórios crônicos e linfedema primário.
Introdução
O que você precisa saber de cara
Uma síndrome raríssima que se caracteriza pela combinação variável de três manifestações: unhas amareladas, problemas respiratórios crônicos e linfedema primário.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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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
+ 7 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 27 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
1 gene identificado com associação a esta condição.
Receptor that may have an important role in cell/cell signaling during nervous system formation
Cell membrane
Neural tube defects
Congenital malformations of the central nervous system and adjacent structures related to defective neural tube closure during the first trimester of pregnancy. Failure of neural tube closure can occur at any level of the embryonic axis. Common NTD forms include anencephaly, myelomeningocele and spina bifida, which result from the failure of fusion in the cranial and spinal region of the neural tube. NTDs have a multifactorial etiology encompassing both genetic and environmental components.
Variantes genéticas (ClinVar)
217 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
1 via biológica associada aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Síndrome das unhas amarelas
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.
Publicações mais relevantes
Yellow Nail Syndrome Presenting With a Complete Clinical Triad: A Report of a Rare Case.
Yellow nail syndrome (YNS) is a rare disorder characterised by a triad of yellow nail discoloration, lymphoedema, and respiratory manifestations, including recurrent pleural effusions. A few hundred cases have been reported worldwide. Diagnosis is primarily clinical, as no definitive biomarkers exist, and the complete triad is seen in only a minority of patients. We report a 76-year-old male who presented with recurrent pleural effusions, non-pitting lower-limb oedema, and characteristic nail changes. Timely recognition of the classical triad allowed appropriate intervention, including indwelling pleural catheter placement and talc pleurodesis, leading to symptomatic improvement. This case highlights the importance of clinical vigilance in evaluating unexplained pleural effusions in older adults.
Yellow nail syndrome: a syndrome with prominent manifest involvement of the respiratory system.
Impaired Wnt/Planar Cell Polarity Signaling in Yellow Nail Syndrome.
Yellow nail syndrome (YNS) is a rare disorder characterized by a triad of yellow dystrophic nails, lymphedema, and chronic lung disease. Most patients present in adulthood, with only a few congenital or familial cases described. The cause of YNS remains largely unknown, although defects in lymphatic vessel development are suggested to play a significant role. To elucidate the genetic mechanisms underlying YNS. Analysis of genetic sequencing data and gene and protein expression studies. A tertiary care academic medical center. 6 patients with congenital YNS (cYNS) and 5 with sporadic YNS (sYNS). Exome and genome sequencing were used to detect disease-causing variants, complemented by RNA analyses for intronic variants. Protein and gene expressions were studied by immunofluorescence staining and real-time reverse transcriptase quantitative polymerase chain reaction analyses. Biallelic variants in CELSR1 (n = 5) or likely FZD6 (n = 1), both core molecules in the Wnt/planar cell polarity (PCP) pathway, were identified in all patients with cYNS; none of the patients with sYNS had candidate genetic variants. Immunofluorescence staining showed that CELSR1 colocalizes with lymphatic vessels in the skin but not in the lungs or the intestine. Moreover, levels of CELSR1 and FZD6 proteins were negligible to zero in patient tissues (n = 2) compared with control tissues. Gene expression of Wnt/PCP-related genes was reduced in patients with cYNS (n = 3), and patients with sYNS (n = 4) showed milder gene expression impairments. Small cohort size and limited sample availability. Defects in PCP organization may play a major role in the pathogenesis of YNS. To the authors' knowledge, this is the first demonstration of a mechanism explaining YNS development, mainly in its congenital form but also in patients with sporadic disease. The Prof. Baum Research Fund of Israel Lung Association.
Yellow Nail Syndrome: A Differential Diagnosis That Must Be in Mind.
Yellow nail syndrome (YNS) is a rare disorder that consists of a clinical triad of thickened yellow nails, lymphedema, and recurring respiratory symptoms. These findings can occur simultaneously or additively, and the characteristic nail changes are an obligatory feature for the diagnosis. The diagnosis of YNS is one of exclusion, and although it is more often an isolated condition, it can occur secondary to immune or neoplastic disorders. Involvement of the respiratory tract occurs in most cases and has a diverse clinical presentation, including pleural effusion and recurrent pneumonia. Due to the rarity of this syndrome and the limited availability of effective treatments, YNS remains associated with substantial morbidity. We present a case of a 58-year-old woman who had a history of recurrent pneumonia, chronic sinusitis, arthralgias, and yellow dystrophic nails that was diagnosed with YNS, and in which daily supplementation with vitamin E resulted in a remarkable clinical improvement.
A 74-Year-Old Man with Massive Ascites: A Case Report of Yellow Nail Syndrome.
Background and clinical significance: Lymphedema is a relatively common clinical manifestation in patients and has a broad differential diagnosis, the main concern being the exclusion of malignancy. However, a rare constellation of lymphedema with systemic features and no underlying malignancy is yellow nail syndrome (YNS). YNS is a lymphatic abnormality, characterized by a triad of yellow nails, primary lymphedema and respiratory manifestations. Case presentation: Here, we report a 74-year-old male patient who presented to us with massive chylous ascites, cough, yellow nails and recurrent bilateral leg edema. During the last 10 years, he had thrice undergone thoracocentesis, which revealed chylous pleural effusion, although there was no documented diagnosis of yellow nail syndrome. We pursued a thorough work-up to rule out underlying cirrhosis and malignancy (the main causes of chylous ascites). There are only few cases of yellow nail syndrome reported in the literature with chylous ascites as a manifestation of YNS. Conclusions: The co-existence of chylous ascites with the classical triad of pleural effusion, lymphedema and yellow nail changes in the same patient has to be included in the diagnostic process to differentiate this entity from liver cirrhosis and solid or hematological cancer.
Publicações recentes
Overall survival among patients with activated phosphoinositide 3-kinase delta syndrome (APDS).
Incidence and prevalence of neurofibromatosis type 1 and 2: a systematic review and meta-analysis.
🥇 Meta-análisePhenotypically Similar Rare Disease Identification from an Integrative Knowledge Graph for Data Harmonization: Preliminary Study.
The effect of human gene therapy for RPE65-associated Leber's congenital amaurosis on visual function: a systematic review and meta-analysis.
🥇 Meta-análiseIntegrating ontologies of rare diseases and radiological diagnosis.
📚 EuropePMC1 artigos no totalmostrando 73
Yellow nail syndrome: a syndrome with prominent manifest involvement of the respiratory system.
BMC pulmonary medicineYellow Nail Syndrome Presenting With a Complete Clinical Triad: A Report of a Rare Case.
CureusYellow Nail Syndrome: A Differential Diagnosis That Must Be in Mind.
CureusA 74-Year-Old Man with Massive Ascites: A Case Report of Yellow Nail Syndrome.
Reports (MDPI)Diagnostic challenges of yellow nail syndrome in an older patient with recurrent pleural effusion: A case report.
MedicineChronic Large Pericardial Effusion Due to Rare Yellow Nail Syndrome.
JACC. Case reportsOral Minoxidil Use in Yellow Nail Syndrome: Report of 2 Cases.
Skin appendage disordersDiagnosis and management of yellow nail syndrome: An international multi-institutional retrospective cohort study of 111 cases by an expert panel.
Journal of the American Academy of DermatologyYellow Nail Syndrome Associated With a Dental Abscess: A Case Report.
CureusA diagnostic journey started with yellow nail syndrome (YNS) ended with the Kartagener's syndrome: a rare case report of coexistence of YNS and Kartagener's syndrome.
Annals of medicine and surgery (2012)Bucillamine-induced Yellow Nail Syndrome with Chylothorax.
Internal medicine (Tokyo, Japan)Impaired Wnt/Planar Cell Polarity Signaling in Yellow Nail Syndrome.
Annals of internal medicineYellow nail syndrome linked to a mediastinal lipoma: a case report.
Journal of medical case reportsPalliative Subcutaneous Needle Drainage for a Rare Cause of Refractory Lymphedema: Yellow Nail Syndrome.
Journal of palliative medicineA Case Report on the Trilogy of Yellow Nail Syndrome: Yellow Nails, Pleural Effusion, and Lymphedema.
CureusYellow nail syndrome in anti-SSA and anti-SSB positive primary Sjögren's syndrome.
BMJ case reportsControl of pleural effusion with prednisolone in a patient with yellow nail syndrome: A case report.
Experimental and therapeutic medicineBilateral axillary web syndrome in a patient with primary lymphoedema of upper limbs and non-Hodgkin lymphoma.
British journal of community nursingFour-Year Follow-Up of a Case of Yellow Nail Syndrome With IgM Deficiency.
CureusYellow Nail Syndrome: Analysis of 23 Consecutive Patients and Effect of Combined Fluconazole-Vitamin-E Treatment.
Dermatology (Basel, Switzerland)[Unexpected diagnosis after abnormal ecg].
Nederlands tijdschrift voor geneeskunde[Yellow nail syndrome. A case report with postmortem study].
Revista espanola de patologia : publicacion oficial de la Sociedad Espanola de Anatomia Patologica y de la Sociedad Espanola de CitologiaDyspnea with chylothorax: Importance of examining the nails.
European journal of internal medicineAmlodipine as a Suggested Cause of Yellow Nail Syndrome: A Case Report.
CureusRapidly Progressive Bronchiectasis and Pulmonary Fibrosis in Yellow Nail Syndrome with Possible Association with Selective IgM Deficiency.
European journal of case reports in internal medicineThe child with yellow nails.
Journal of paediatrics and child healthUtility of contrast-enhanced magnetic resonance lymphangiography for yellow nail syndrome with lymphangiopathy: a case report.
Oxford medical case reportsYellow nail syndrome accompanied by minimal-change nephrotic syndrome: A case report.
World journal of clinical casesYellow nail syndrome in an elderly sudanese female: A case report.
Clinical case reportsA 49-Year-Old Woman With Persistent Bilateral Pleural Effusions.
ChestYellow Nail Syndrome: A Case Presentation and a Review of Management Options.
South Dakota medicine : the journal of the South Dakota State Medical AssociationYellow nail syndrome with massive chylothorax after esophagectomy: A case report.
Respiratory medicine case reportsA Rare Cause of Exudative Pleural Effusion in a Female.
CureusYellow Nail Syndrome in Which Intranodal Lymphangiography Contributed to the Diagnosis.
Internal medicine (Tokyo, Japan)Yellow Nail Syndrome Successfully Treated with Oral Terbinafine and Topical Minoxidil.
Clinical, cosmetic and investigational dermatologyAn autopsy case report of yellow nail syndrome coincided with primary biliary cholangitis.
Respiratory medicine case reportsYellow nail syndrome: a genetic Disorder?
La Tunisie medicaleDyschromic Nails, Exertional Dyspnea, and Lower Extremity Edema.
JAMAYellow nails syndrome: complete triad.
The Medical journal of AustraliaNails: The Window to the Nose? Update on Yellow Nail Syndrome.
Dermatology practical & conceptual[Lymphedema-clinical picture and therapy].
Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte GebieteCongenital yellow nail syndrome presenting with eyelid lymphedema and fetal hydrops.
JAAD case reportsCharacterization of Sinus Disease in Patients with Yellow Nail Syndrome.
American journal of rhinology & allergySinonasal mucosal vasculature in yellow nail syndrome and chronic rhinosinusitis with or without polyps.
International forum of allergy & rhinologyNail changes, lymphedema, and respiratory symptoms.
JAAD case reportssQuiz your knowledge! Nail changes as a presentation of an overlooked systemic syndrome.
European journal of dermatology : EJDYellow nail syndrome following multiple orthopedic surgeries: a case report.
Journal of medical case reportsYellow nail syndrome resulting from cardiac mitral valve replacement.
Journal of cardiothoracic surgeryYellow Nail Syndrome with Bilateral Pleural Plaques and Diffuse Pleural Thickening: A Mimic of Asbestos Related Disease.
Case reports in pulmonologyYellow Nail Syndrome Patients with Diffuse Panbronchiolitis-like Pulmonary Manifestation.
Internal medicine (Tokyo, Japan)Yellow nail syndrome with chylothorax after coronary artery bypass grafting.
Journal of cardiothoracic surgeryA Case-Control Study of the Lymphatic Phenotype of Yellow Nail Syndrome.
Lymphatic research and biologyEffectiveness of clarithromycin in patients with yellow nail syndrome.
BMC pulmonary medicine[Respiratory manifestations of yellow nail syndrome: report of two cases and literature review].
Zhonghua jie he he hu xi za zhi = Zhonghua jiehe he huxi zazhi = Chinese journal of tuberculosis and respiratory diseasesHyperplasia of Lymphoid Follicles and Lymphangiectasia in the Parietal Pleura in Bucillamine-induced Yellow Nail Syndrome.
Internal medicine (Tokyo, Japan)Yellow Nail Syndrome Presenting With a Pericardial Effusion: A Case Report and Review of the Literature.
Journal of cutaneous medicine and surgeryYellow Nail Syndrome With Dramatic Improvement of Nail Manifestations After Endoscopic Sinus Surgery.
Clinical medicine insights. Ear, nose and throatThe Development of Yellow Nail Syndrome after the Implantation of a Permanent Cardiac Pacemaker.
Internal medicine (Tokyo, Japan)Foxc2 influences alveolar epithelial cell differentiation during lung development.
Development, growth & differentiationUsing Sutton's Law: Yellow Nail Syndrome.
The American journal of medicineYellow nail syndrome: a review.
Orphanet journal of rare diseasesTitanium Dioxide in Toothpaste Causing Yellow Nail Syndrome.
PediatricsBronchiectasis in yellow nail syndrome.
Respirology (Carlton, Vic.)Yellow nail syndrome after allogeneic haematopoietic stem cell transplantation in two patients with multiple myeloma.
Acta clinica BelgicaYellow nail syndrome in rheumatoid arthritis: an aetiology beyond thiol drugs.
Oxford medical case reportsRelapse of Yellow Nail Syndrome with Pulmonary Lymphedema.
Internal medicine (Tokyo, Japan)Yellow Nail Syndrome Associated with Pericarditis and Pericardial Effusion: a Case Report.
Acta medica IranicaYellow Nail Syndrome: Report of Two Cases and a Brief Review of the Current Literature.
European journal of case reports in internal medicineYellow nail syndrome: a case report and review of treatment options.
The clinical respiratory journalYellow Nail Syndrome: Report of a Case Successfully Treated with Octreotide.
TanaffosA curious case of yellow nail syndrome.
Pneumologia (Bucharest, Romania)Case report of chronic cough and legs edema of an 84-year-old man: when the solution is found in the nails.
Geriatrics & gerontology internationalRole of Titanium in the Development of Yellow Nail Syndrome.
Skin appendage disordersAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
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Comunidades
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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.
- Yellow Nail Syndrome Presenting With a Complete Clinical Triad: A Report of a Rare Case.
- Yellow nail syndrome: a syndrome with prominent manifest involvement of the respiratory system.
- Impaired Wnt/Planar Cell Polarity Signaling in Yellow Nail Syndrome.
- Yellow Nail Syndrome: A Differential Diagnosis That Must Be in Mind.
- A 74-Year-Old Man with Massive Ascites: A Case Report of Yellow Nail Syndrome.
- Overall survival among patients with activated phosphoinositide 3-kinase delta syndrome (APDS).
- Incidence and prevalence of neurofibromatosis type 1 and 2: a systematic review and meta-analysis.
- Phenotypically Similar Rare Disease Identification from an Integrative Knowledge Graph for Data Harmonization: Preliminary Study.
- The effect of human gene therapy for RPE65-associated Leber's congenital amaurosis on visual function: a systematic review and meta-analysis.
- Integrating ontologies of rare diseases and radiological diagnosis.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:662(Orphanet)
- OMIM OMIM:153300(OMIM)
- MONDO:0007921(MONDO)
- GARD:184(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- Q1786851(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
