Introdução
O que você precisa saber de cara
A Ictiose é uma família de doenças genéticas de pele caracterizadas por pele seca, espessada e escamosa. Os mais de 20 tipos de ictiose variam na gravidade dos sintomas, aparência externa, causa genética subjacente e modo de herança. Ictiose vem do grego ἰχθύς (ichthys) 'peixe', uma vez que a pele seca e escamosa é a característica definidora de todas as formas de ictiose.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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
Linha do tempo da pesquisa
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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
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 de ictiose-anomalias orais e digitais
Centros de Referência SUS
24 centros habilitados pelo SUS para Síndrome de ictiose-anomalias orais e digitais
Centros para Síndrome de ictiose-anomalias orais e digitais
Detalhes dos centros
Hospital Universitário Prof. Edgard Santos (HUPES)
R. Dr. Augusto Viana, s/n - Canela, Salvador - BA, 40110-060 · CNES 0003808
Serviço de Referência
Hospital Infantil Albert Sabin
R. Tertuliano Sales, 544 - Vila União, Fortaleza - CE, 60410-794 · CNES 2407876
Serviço de Referência
Hospital de Apoio de Brasília (HAB)
AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456
Serviço de Referência
Hospital Estadual Infantil e Maternidade Alzir Bernardino Alves (HIABA)
Av. Min. Salgado Filho, 918 - Soteco, Vila Velha - ES, 29106-010 · CNES 6631207
Serviço de Referência
Hospital das Clínicas da UFG
Rua 235 QD. 68 Lote Área, Nº 285, s/nº - Setor Leste Universitário, Goiânia - GO, 74605-050 · CNES 2338424
Serviço de Referência
Hospital Universitário da UFJF
R. Catulo Breviglieri, Bairro - s/n - Santa Catarina, Juiz de Fora - MG, 36036-110 · CNES 2297442
Atenção Especializada
Hospital das Clínicas da UFMG
Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167
Serviço de Referência
Hospital Universitário Julio Müller (HUJM)
R. Luis Philippe Pereira Leite, s/n - Alvorada, Cuiabá - MT, 78048-902 · CNES 2726092
Atenção Especializada
Hospital Universitário João de Barros Barreto
R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878
Serviço de Referência
Hospital Universitário Lauro Wanderley (HULW)
R. Tabeliao Estanislau Eloy, 585 - Castelo Branco, João Pessoa - PB, 58050-585 · CNES 0002470
Atenção Especializada
Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)
R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647
Serviço de Referência
Hospital Pequeno Príncipe
R. Des. Motta, 1070 - Água Verde, Curitiba - PR, 80250-060 · CNES 3143805
Serviço de Referência
Hospital Universitário Regional de Maringá (HUM)
Av. Mandacaru, 1590 - Parque das Laranjeiras, Maringá - PR, 87083-240 · CNES 2216108
Atenção Especializada
Hospital de Clínicas da UFPR
R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980
Serviço de Referência
Hospital Universitário Pedro Ernesto (HUPE-UERJ)
Blvd. 28 de Setembro, 77 - Vila Isabel, Rio de Janeiro - RJ, 20551-030 · CNES 2280221
Serviço de Referência
Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF/Fiocruz)
Av. Rui Barbosa, 716 - Flamengo, Rio de Janeiro - RJ, 22250-020 · CNES 2269988
Serviço de Referência
Hospital São Lucas da PUCRS
Av. Ipiranga, 6690 - Jardim Botânico, Porto Alegre - RS, 90610-000 · CNES 2232928
Serviço de Referência
Hospital de Clínicas de Porto Alegre (HCPA)
Rua Ramiro Barcelos, 2350 Bloco A - Av. Protásio Alves, 211 - Bloco B e C - Santa Cecília, Porto Alegre - RS, 90035-903 · CNES 2237601
Serviço de Referência
Hospital Universitário da UFSC (HU-UFSC)
R. Profa. Maria Flora Pausewang - Trindade, Florianópolis - SC, 88036-800 · CNES 2560356
Serviço de Referência
Hospital das Clínicas da FMUSP
R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485
Serviço de Referência
Hospital de Base de São José do Rio Preto
Av. Brg. Faria Lima, 5544 - Vila Sao Jose, São José do Rio Preto - SP, 15090-000 · CNES 2079798
Atenção Especializada
Hospital de Clínicas da UNICAMP
R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223
Serviço de Referência
Hospital de Clínicas de Ribeirão Preto (HCRP-USP)
R. Ten. Catão Roxo, 3900 - Vila Monte Alegre, Ribeirão Preto - SP, 14015-010 · CNES 2082187
Serviço de Referência
UNIFESP / Hospital São Paulo
R. Napoleão de Barros, 715 - Vila Clementino, São Paulo - SP, 04024-002 · CNES 2688689
Serviço de Referência
Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Pesquisa e ensaios clínicos
Nenhum ensaio clínico registrado para esta condição.
Publicações mais relevantes
Orofacial clefting in PHF6-related Börjeson-Forssman-Lehmann syndrome.
Börjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked neurodevelopmental disorder caused by pathogenic variants in the plant homeodomain finger protein 6 (PHF6) gene. Core features include developmental delay, intellectual disability, dysmorphic craniofacial characteristics, obesity, hypogonadism and digital anomalies. Orofacial clefting has not been recognised as part of the canonical phenotype and is rarely reported in association with BFLS. One cohort study listed cleft lip and/or palate as an uncommon feature without individual case details, and a separate report described a female with a nonsense PHF6 variant and clefting of the hard and soft palate. Here, we describe a BFLS female with a de novo missense PHF6 variant who presented with cleft palate. This case adds to the emerging evidence that clefting, though uncommon, may be a recurrent manifestation. It supports the inclusion of PHF6 in the genetic testing of patients presenting with syndromic orofacial clefting when accompanied by neurodevelopmental delay or dysmorphism.
Postpartum reversible cerebral vasoconstriction syndrome: a rare but severe cause of postpartum headache.
Postpartum reversible cerebral vasoconstriction syndrome (RCVS), also known as postpartum cerebral angiopathy, is an uncommon but potentially serious cause of thunderclap headache. Early diagnosis is challenging, and there may be a misdiagnosis due to non-specific clinical presentation and frequently normal initial imaging studies.We report a case of a primigravid woman in her early 30s who developed a sudden, severe holocranial headache on the fourth postpartum day, with no associated neurological findings. Initial head CT, CT angiography, cerebral CT venography and MRI showed no abnormalities. However, digital subtraction angiography (DSA), revealed multifocal segmental narrowing of intracranial arteries, with complete reversibility after 3 months, consistent with RCVS.The patient was treated with oral nimodipine and experienced gradual symptom resolution. There was no complication associated, with no recurrence so far.
[Research progress in diagnosis and treatment of non-tumorous salivary gland diseases].
Salivary gland diseases are common disorders in the oral and maxillofacial region, mainly classified into two categories: Tumorous and non-tumorous. Non-tumorous salivary gland diseases include various types such as salivary gland inflammation, Sjögren syndrome, granulomatous diseases, and developmental abnormalities. Some of these diseases are local lesions, while others are closely associated with systemic diseases, often accompanied by impaired salivary secretion function, leading to xerostomia and secondary lesions. Over the past more than 20 years, the Salivary Gland Disease Research Center of Peking University School and Hospital of Stomatology has conducted systematic and in-depth studies focusing on the regulation of salivary secretion function by tight junction proteins, the clinicopathological characteristics, prevention and treatment of novel chronic sialadenitis [including immunoglobulin (Ig) G4-related sialadenitis, 131I-induced sialadenitis, and eosinophilic sialodochitis], stem cells from human exfoliated deciduous teeth-based therapy for Sjögren syndrome, and salivary gland developmental abnormalities. These studies provide important references for the basic research, clinical diagnosis and treatment of related diseases. 唾液腺疾病是口腔颌面部常见疾病, 主要分为肿瘤性与非肿瘤性两大类。唾液腺非肿瘤性疾病主要包括唾液腺炎症、干燥综合征、肉芽肿性疾病及发育异常等多种类型。此类疾病部分为局部病变, 部分与系统性疾病相关, 常伴随唾液分泌功能受损, 引发口干及继发性病变。北京大学口腔医学院唾液腺疾病研究中心近二十余年来围绕着紧密连接蛋白对唾液腺分泌功能的调控、新型慢性唾液腺炎[免疫球蛋白(immunoglobulin, Ig)G4相关唾液腺炎、131I相关唾液腺炎和嗜酸性唾液腺导管炎]的临床病理特征与防治、牙髓干细胞治疗干燥综合征及唾液腺发育异常等领域开展了系统性深入研究, 为相关疾病的基础研究与临床诊治提供了重要参考。
Central hypoventilation and choking episodes revealing Chiari malformation type I.
A woman in her early 40s presented with a 7-year history of recurrent choking episodes affecting solids and liquids, nocturnal choking episodes occurring 3-4 times weekly, and chronic occipital headaches spanning 14 years. Home monitoring during the COVID-19 pandemic incidentally revealed episodes of severe oxygen desaturation (70%-80%) without respiratory distress. Multiple laryngoscopies and endoscopies performed to investigate the choking episodes were normal. Review of a 14-year-old CT scan of the head performed for unrelated trauma revealed a previously overlooked crowded foramen magnum. MRI of the head and neck confirmed Chiari malformation type I (CMI) with 11 mm cerebellar tonsillar descent. Sleep study demonstrated mild sleep apnoea (apnoea-hypopnoea index 6.0) with predominantly central events (72%). This case illustrates that CMI can present with respiratory symptoms that closely mimic acquired central hypoventilation syndrome (Ondine's curse), emphasising the importance of considering structural brain abnormalities in patients with unexplained respiratory dysfunction.
An Evidence-Based Practical Review on Common Benign Anorectal Disorders: Hemorrhoids, Anal Fissure, Dyssynergic Defecation, and Fecal Incontinence.
This evidence-based practical review is focused on the clinical features, investigations, and treatment of hemorrhoids, chronic anal fissures, dyssynergic defecation (DD), and fecal incontinence (FI), which are arguably the most common benign anorectal diseases encountered by gastroenterologists. These diseases are associated with bowel disturbances, which should be evaluated preferably with questionnaires, and with anal weakness and/or DD, often evident on a thorough digital rectal examination. Fissures and DD are closely linked to constipation, whereas FI is typically associated with diarrhea. For most patients with mild symptoms, lifestyle changes, dietary adjustments, and/or pharmacotherapy suffice. Some patients require tests to rule out serious diseases; assess anorectal functions, which are discussed in detail; and to identify structural abnormalities, such as rectoceles, which are occasionally clinically significant. Treatments are applied stepwise, starting with conservative therapy with simpler treatments when feasible (eg, rubber band ligation for grade I-II hemorrhoids), with surgery, usually excisional hemorrhoidectomy, being reserved for more severe disease; for anal fissures, topical therapy using a calcium channel antagonist or nitroglycerine, followed by botulinum toxin and, less frequently, lateral internal sphincterotomy for chronic fissures. Anorectal biofeedback therapy is effective for managing DD and, together with bowel modifiers tailored to the specific symptoms (ie, constipation and/or diarrhea), is also used for FI. Biofeedback therapy is not widely accessible, and many patients are treated by pelvic floor physical therapists. For FI, minimally invasive options include sacral neuromodulation and anal dextranomer injection, with colostomy or anal sphincteroplasty now rarely required. Surgical interventions must balance long-term effectiveness with potential risks. Key topics for future research are proposed.
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Ver todas no PubMed📚 EuropePMCmostrando 199
Partial Anomalous Pulmonary Venous Return in Lung Cancer Surgery: Diagnostic Challenges and Surgical Considerations in Two Cases.
The Tokai journal of experimental and clinical medicineNonatherosclerotic Subclavian Steal Syndrome Due to Brachiocephalic Trunk Kinking in an Elderly Woman: A Case Report.
The American journal of case reportsMotor Neuronopathy With Widespread Fasciculations in MCM3AP-Related Disorder: Clinical and Muscle MRI Insights.
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BMJ case reportsThe value of 18F-fluorodeoxyglucose positron emission tomography/computed tomography in the diagnosis and evaluation of TAFRO syndrome: a review of cases and literature.
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Frontiers in medicine[Mitral Valvuloplasty in a Patient with Left Inferior Vena Cava with Hemiazygos Continuation:Report of a Case].
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Pediatrics international : official journal of the Japan Pediatric SocietyLateral mandibular ridge: A unique feature of the auriculocondylar syndrome.
European journal of radiologyBiomarkers of balance and gait deficits in FMR1 premutation carriers: a mini-review.
Frontiers in aging neuroscienceComprehensive Orthodontic Therapy and Retention Protocol in Freeman-Sheldon Syndrome: A Case Report.
CureusEfficacy of a Mobile Multidisciplinary Digital Therapeutics App for Patellofemoral Pain: Randomized Controlled Trial.
JMIR mHealth and uHealthLarge Airway and Lung Findings in Symptomatic Children and Young Adults With Down Syndrome.
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BMJ case reportsPharyngeal Arches, Chapter 3: Craniofacial Syndromes.
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Case reports in nephrology and dialysisContributing Factors for Angle's Class III Phenotype in Crouzon Syndrome.
European journal of paediatric dentistryBiallelic Variants in TMEM17 Cause Meckel-Gruber Syndrome Within the Ciliopathy Spectrum.
Clinical geneticsThree New Cases of Autosomal Recessive Stickler Syndrome due to Biallelic Variants in the LOXL3 Gene.
Clinical geneticsTechnical Success of Stent Placement via Transradial Approach for Aberrant Right Subclavian Artery Stenosis.
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Oxford medical case reportsDeep Learning-Powered Down Syndrome Detection Using Facial Images.
Life (Basel, Switzerland)Rare features in Feingold syndrome type 1.
European journal of medical geneticsAre There Morphophysiological Airway Alterations in Syndromic Craniosynostosis? A 3D Computed Tomography and CFD Analysis.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationClinical and Prognostic Significance of Anomalous Origin of a Coronary Artery in Adults.
CirculationAlteration of the follicular fluid amino acid profile reveals the important roles of several amino acids in embryo quality in patients with polycystic ovary syndrome.
Reproductive biology and endocrinology : RB&EA Review of Digital Eye Strain: Binocular Vision Anomalies, Ocular Surface Changes, and the Need for Objective Assessment.
Journal of eye movement researchSerial chest computed tomography imaging in a freediver with a case of pulmonary barotrauma of descent (lung squeeze) showing the time course of resolution.
Diving and hyperbaric medicineMachine Learning Algorithms in EEG Analysis of Kleefstra Syndrome: Current Evidence and Future Directions.
Sensors (Basel, Switzerland)Bi-allelic INTU variants define a ciliopathy disorder characterized by orofacial, digital, and cardiac anomalies.
HGG advancesContrast-Enhanced Ultrasonography for Clinical Assessment of Vertebral Artery Origin Pathologies.
Ultrasound in medicine & biologyA Clinically Relevant Classification System for Pediatric Talocalcaneal Coalition.
Journal of pediatric orthopedicsPterygoid bone malformation and its limitations on the effectiveness of brachycephalic airway corrective surgery in brachycephalic dogs.
The Journal of small animal practiceA complex case of recurrent bilateral alternating orbital inflammation associated to VEXAS syndrome.
Orbit (Amsterdam, Netherlands)Horner Syndrome Secondary to Suspected Internal Carotid Artery Dissection in a Golden Retriever.
Journal of veterinary internal medicineNext-generation morphology, a novel multilayer morphometric digital analysis, reveals both the basic topology and new trends of myelodysplasia of peripheral blood specimens.
British journal of haematologyAn in-depth analysis of coronary computed tomography angiography segmental findings in acute spontaneous coronary artery dissection - a prospective multicenter study.
Journal of cardiovascular computed tomographyAssociation of PAX3 Gene Polymorphism with Three-Dimensional Nasal Root Morphology.
International journal of molecular sciencesIdentification and splicing analysis of the first deep intronic FIG4 variant causing Yunis-Varon syndrome.
Frontiers in geneticsA rare case of parachute mitral valve and dual drainage of the left upper pulmonary vein in a patient with Kabuki syndrome.
Cardiology in the youngManagement of asymmetrical presentation of non-syndromic mandibular supernumerary teeth: a case report.
Annals of medicine and surgery (2012)Uncommon Ileo-Cecal Intussusception in Adults: A Case Report of Diagnosis and Management.
The American journal of case reportsMissense Variants in the Second Transmembrane Domain of TMEM17 Disrupt Its Stability and Function and Lead to a Wide Phenotypic Spectrum of Ciliopathies.
Clinical geneticsSitus inversus totalis with pleural empyema: a clue to ciliary dysfunction.
BMJ case reportsUpdate on congenital stapes footplate fixation and juvenile otosclerosis.
Current opinion in otolaryngology & head and neck surgeryApplication of the ADEM definition to cerebral attacks of MOG antibody-associated disease.
Multiple sclerosis (Houndmills, Basingstoke, England)Secondary Asphyxiating Thoracic Dysplasia Due to Multiple Chondromas: A Novel Surgical Report.
Interdisciplinary cardiovascular and thoracic surgeryThe Impact of Visceral Fat Accumulation on 24-h Urine Chemistries and Stone-Recurrence in Patients With Urolithiasis.
International journal of urology : official journal of the Japanese Urological AssociationA rare pediatric case of Li-Fraumeni syndrome presenting with virilization symptoms and dual primary malignancies on magnetic resonance imaging and [18F]-fluorodeoxyglucose positron emission tomography/computed tomography.
Pediatric radiologyTransient Ischaemic Attacks in a Girl with Subclavian Steal Syndrome.
Journal of mother and childDiabetes insipidus as a presentation of lung adenocarcinoma: a case report.
Journal of medical case reportsVan Maldergem syndrome-1 in a patient with central precocious puberty: A case report.
MedicineThe Kabuki Syndrome in 18 F-FDG-PET/CT.
Clinical nuclear medicineAn Unusual Case of Left-Sided Poland Syndrome Presenting with Diaphragmatic Hernia and Mediastinal Shift with Absence of Hand and Scapular Deformity.
Journal of orthopaedic case reportsCircumaortic Left Renal Vein Causing Combined Nutcracker Syndrome: A Case Report and Literature Review.
Archivos espanoles de urologiaCase of a Middle-Aged Woman with Sick Sinus Syndrome and Cor Triatriatum Dexter.
Brazilian journal of cardiovascular surgeryVenovenous extracorporeal membrane oxygenation catheter related superior vena cava syndrome without pre-existing stenosis in an adult patient: a case report.
BMC pulmonary medicineTranscatheter Versus Surgical Correction of Superior Sinus Venosus Defects: Comparison of the Outcomes and Late Complications.
Pediatric cardiologyThree-dimensional tooth morphology in patients with tooth agenesis and its association to agenesis pattern, severity, and sex.
Scientific reportsMachine learning-based identification of biochemical markers to predict hepatic steatosis in patients at high metabolic risk.
World journal of gastroenterologyCase Report: A novel compound heterozygosity of the EVC2 gene identified in a Chinese pedigree with congenital heart defect.
Frontiers in pediatricsImaging in animal models: bridging experimental findings and human pathophysiology.
Critical care (London, England)Cronkhite-Canada Syndrome Presenting as Diarrhea and Weight Loss: A Case Report and Literature Review.
The Korean journal of gastroenterology = Taehan Sohwagi Hakhoe chiFeingold syndrome with GJB2 variants.
Auris, nasus, larynxEagle syndrome presenting with cardiac sinoatrial arrest and recurrent syncope.
BMJ case reportsAcute splenic torsion in an adolescent with polysplenia syndrome: case report.
Italian journal of pediatricsExercise in Patients With Bicuspid Aortic Valve and Aortic Dilation.
The Annals of thoracic surgeryHereditary kidney disease with auditory abnormalities: analysis of mutations and clinical phenotypes.
BMC medical genomicsCorrelation between fatigue and pulmonary involvement in the post-COVID-19 condition: a cross-sectional study 6-12 months after hospital discharge.
BMJ openClinical characteristics of patients with SALL1-related disorder.
Pediatric nephrology (Berlin, Germany)[Chilaiditi's syndrome-A rare anatomical variant of the colon].
Chirurgie (Heidelberg, Germany)Enhanced Sutural Protraction: An Innovative Orthopedic Protocol for Midfacial Advancement in Growing Patients.
The Journal of craniofacial surgeryFistulograms for the management of recurrent and atypical congenital neck anomalies.
International journal of pediatric otorhinolaryngologyInflammatory back pain associated with nail-patella syndrome: A case report.
Medicine[Development and application of a digital PCR-based assay for rapid diagnosis of common fetal chromosomal aneuploidies].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsMoyamoya Disease and Syndrome in Adults: A Report of Four Cases.
CureusUnraveling cerebrovascular involvement in EGPA through digital subtraction angiography: case presentation and systematic literature review.
BMC rheumatology[Differential Diagnosis of Conductive Hearing Loss].
Laryngo- rhino- otologieEGR3 Deletion Rescues Developmental and Epileptic Encephalopathy in Kcna1-null Mice.
bioRxiv : the preprint server for biologyPerineural Invasion of the Facial Nerve Presenting as Rapid-Onset Excruciating Facial Pain and Paralysis.
The Annals of otology, rhinology, and laryngologyIncidental brain uptake of Gallium-68 DOTATATE positron emission tomography/computed tomography scan in patients with neuroendocrine tumors: a case report and literature review.
Chinese clinical oncologyOptimizing C-Type Natriuretic Peptide and Receptor Expression Analysis with Droplet Digital™ PCR: Advancing Biomarker Discovery for Brugada Syndrome?
BiomoleculesClarifying the Relationship Between Orbito-Zygomatic and Mandibular Dysmorphology in Treacher Collins Syndrome.
The Journal of craniofacial surgery[Remarkable improvement of metastatic occipital condyle syndrome in a patient with lung adenocaricinoma treated with osimertinib].
Rinsho shinkeigaku = Clinical neurologyIs There a Relationship Between Styloid Process Morphology and Symptoms Associated With Eagle Syndrome?
The Annals of otology, rhinology, and laryngologyOsler-Weber-Rendu Syndrome: A Case Report and Brief Literature Review.
South Dakota medicine : the journal of the South Dakota State Medical AssociationThe cochlear basal turn as a very preserved region in cochlear hypoplasias: radiological and embryological considerations from a cohort of 125 patients.
NeuroradiologyCurrent Developments on [18F]FDG PET/CT in Inflammatory Disorders of the Central Nervous System.
Seminars in nuclear medicineClinical approach to anatomical variations of maxillary sinus - a surgical perspective.
Folia morphologicaPeripheral arteriovenous malformations: Diagnosis and future prospects.
Presse medicale (Paris, France : 1983)[Pulmonary amyloidosis in Sjögren's syndrome: a case report].
Zhonghua jie he he hu xi za zhi = Zhonghua jiehe he huxi zazhi = Chinese journal of tuberculosis and respiratory diseasesMultimodality Imaging in Presurgical Evaluation of Total Anomalous Pulmonary Venous Connection: Single-Center Practice Variability and a Systematic Review of Diagnostic Error.
Journal of the American Society of Echocardiography : official publication of the American Society of EchocardiographyHistological differences between brachycephalic and normocephalic dog palatine tonsils.
Research in veterinary scienceNovel compound heterozygous PIEZO1 variants in dehydrated hereditary stomatocytosis initially suspected as myelodysplastic syndromes: a case report.
Frontiers in oncologyComplex genitourinary anomaly presenting in adolescence: should antenatal kidney abnormalities prompt future screening for Mullerian abnormalities?
BMJ case reportsSARS-CoV-2 associated encephalitis.
Journal of infection in developing countriesContemporary diagnosis and management of spontaneous coronary artery dissection.
Heart (British Cardiac Society)Long-Term Clinical Outcomes of Adults Hospitalized for COVID-19 Pneumonia.
Emerging infectious diseasesComparative Analysis of Coronary Artery Anomalies Originating From the Pulmonary Artery: Clinical Presentation, Imaging Findings, and Surgical Outcomes in Diverse Age Groups.
Heart, lung & circulationHome-Based Care Management for Patients Post-Heart Failure Index Hospitalization: A Comprehensive Review.
CureusLongitudinal alterations of gut mycobiota during 2 years after COVID-19 and its correlation with pulmonary sequela.
Microbiology spectrumPortal vein dilation in Klippel-Trenaunay and CLOVES syndromes.
International angiology : a journal of the International Union of AngiologyFunctional Compression of the Right Internal Carotid Artery by the Hyoid Bone in a Patient with Moyamoya Syndrome and Low Internal Carotid Artery Bifurcation: A Case Report.
Vascular health and risk managementSemi-automated three-dimensional analysis of maxillary anomalies in patients with Muenke syndrome, Saethre-Chotzen syndrome or TCF12-related craniosynostosis: A retrospective study.
Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial SurgeryAbdominal vascular compression syndromes: A pictorial review.
European journal of radiologyBilateral Alternate Orbital and Ocular Manifestations in a VEXAS Syndrome Patient.
Ocular immunology and inflammation[Radiology of cysts: Analysis and classification of pulmonary and hepato-pancreatic cysts on imaging].
Annales de pathologieChronobiology of Mood Disorders: The Role of the Biological Clock in Depression and Bipolar Disorder.
Biological psychiatryCase Report: Association of Ocular Colobomas With a Novel Missense Variant in CDC42, a Member of the Rho Family of Small GTPases.
Clinical geneticsMidline defect with corpus callosum agenesis, vermian hypoplasia and median cleft lip palate.
Case reports in perinatal medicinePost-COVID-19 condition in patients receiving invasive positive pressure ventilation or high flow nasal cannula therapy.
Respiratory investigationNext-generation Approaches in Targeting Polycystic Ovarian Syndrome: Innovative Strategies.
Current medicinal chemistryOutcomes of Virtually Assisted Personalized Tracheostomy Tubes for Congenital Airway Anomalies.
The LaryngoscopeBilateral elongated styloid process in an Early Middle Age individual from the south-east of Spain: elongation, angulation, and clinical implications.
Anthropologischer Anzeiger; Bericht uber die biologisch-anthropologische LiteraturDiagnostic dilemma of a new endobronchial lesion in a patient on anti-tuberculosis regimen: unveiling tuberculosis immune reconstitution inflammatory syndrome.
BMC infectious diseasesPrevalence of Persistent Cardiovascular and Pulmonary Abnormalities on PET/MRI and DECT Imaging in Long COVID Patients.
Journal of nuclear medicine : official publication, Society of Nuclear MedicinePredictors of Unfavorable Outcomes in COVID-19-Related Sepsis: A Prospective Cohort Study.
VirusesClinical features and diagnostic challenges in crowned dens syndrome: a systematic review and meta-analysis.
Rheumatology internationalBrain Structural Abnormalities in Patients with Post-COVID-19 Headache.
Neurology internationalAssociations between pathophysiological traits and symptom development in retrospective analysis of V30M and V122I transthyretin amyloidosis.
International journal of cardiology. Heart & vasculatureMyocardial Late Enhancement With Photon-Counting Detector CT in Spontaneous Coronary Artery Dissection: Prospective Comparison With Cardiac MRI.
Investigative radiologyAnatomical variation of the superficial branch of the radial nerve and brachioradialis tendon: a case report with embryological and clinical insights.
Folia medicaBone marrow lesions related to bone marrow edema syndromes and osteonecrosis.
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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.
- Orofacial clefting in PHF6-related Börjeson-Forssman-Lehmann syndrome.
- Postpartum reversible cerebral vasoconstriction syndrome: a rare but severe cause of postpartum headache.
- [Research progress in diagnosis and treatment of non-tumorous salivary gland diseases].Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences· 2026· PMID 41633579mais citado
- Central hypoventilation and choking episodes revealing Chiari malformation type I.
- An Evidence-Based Practical Review on Common Benign Anorectal Disorders: Hemorrhoids, Anal Fissure, Dyssynergic Defecation, and Fecal Incontinence.
- Is the combination of bilateral pulmonary nodules and mosaic attenuation on chest CT specific for DIPNECH?
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:2272(Orphanet)
- MONDO:0009792(MONDO)
- Ictiose Hereditaria(PCDT · Ministério da Saúde)
- GARD:2960(GARD (NIH))
- Busca completa no PubMed(PubMed)
- Q55782174(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
