A síndrome bócio multinodular - rim cístico - polidactilia é uma síndrome muito rara caracterizada pela associação de bócio multinodular, doença renal cística e anomalias digitais.
Introdução
O que você precisa saber de cara
A síndrome bócio multinodular - rim cístico - polidactilia é uma síndrome muito rara caracterizada pela associação de bócio multinodular, doença renal cística e anomalias digitais.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Entender a doença
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 5 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
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 bócio multinodular-rim cístico-polidactilia
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Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Pesquisa e ensaios clínicos
Nenhum ensaio clínico registrado para esta condição.
Publicações mais relevantes
Daneman Syndrome Revisited.
DICER1 Syndrome With Embryonal Rhabdomyosarcoma of the Uterine Cervix and Retroperitoneal Metastasis: A Case Report and Literature Review.
DICER1 syndrome is a rare autosomal dominant genetic disorder and presents a variety of manifestations. A 15-year-old adolescent presented cervical embryonal rhabdomyosarcoma, retroperitoneal tumor and multinodular goiter. Genetic analysis demonstrated a mutation in Exon 25 of DICER1 gene, a mutation in Intron 19 of NF1 gene, and a mutation in Exon 7 of TP53 gene. The patient received surgical treatment and six courses of combination chemotherapy. After 7 months of initial diagnosis, the patient occurred a pleural and mediastinal metastasis and eventually died of respiratory failure. Multiple gene mutations, in addition to DICER1 gene mutation, may influence the behavior and prognosis of DICER1 syndrome. We detail the necessity of instituting personalized, multidisciplinary monitoring plans, including regular clinical evaluations and targeted imaging of high-risk organs, to enable early detection and intervention.
Liver Lipodystrophy in Barraquer-Simons Syndrome: How Much Should We Worry About?
Lipodystrophy is a rare group of metabolic disorders characterized by the abnormal distribution of body fat, which can lead to various metabolic complications due to the body's inability to adequately process carbohydrates and fat. We report the case of a female, aged 53 years, who was admitted as an outpatient for progressive weight loss of the upper part of the body (face, neck, arms, and chest), dyspeptic complaints, fatigue, mild insomnia, and anxious behavior. Her medical history was characterized by the presence of dyslipidemia, hypertension, and a minor stroke episode. However, she denied any family-relevant medical history. Although the clinical perspective suggested a possible late onset of partial acquired lipodystrophy, due to the imaging exam that revealed an enlarged liver with inhomogeneous structure with multiple nodular lesions, scattered over both lobes, a lot of lab work-ups and complementary studies were performed. Eventually, a liver biopsy was performed by a laparoscopic approach during cholecystectomy, the histology consistent with metabolic disease-associated steatohepatitis (MASH). In conclusion, given their heterogeneity and rarity, lipodystrophies may be either overlooked or misdiagnosed for other entities. Barraquer-Simons syndrome (BSS) may be associated with liver disease, including cirrhosis and liver failure. Liver lipodystrophy in BSS may sometimes feature steatosis with a focal, multi-nodular aspect, multiplying the diagnostic burden. Liver lipodystrophy may manifest as asymptomatic fat accumulation but may progress to severe conditions, representing one of the major causes of mortality in BSS, apart from the cardio-vascular comorbidities. Given the potential of severe outcomes, it is mandatory to correctly assess the stage of liver disease since the first diagnosis.
Unmasking familial follicular cell-derived thyroid neoplasms associated with syndromes: DICER1 and PTEN-hamartoma tumor syndromes.
Familial non-medullary, follicular cell-derived thyroid neoplasms represent a genetically diverse and under-recognized group of tumors arising from follicular epithelial cells. These familial thyroid tumors are subclassified into syndromes where thyroid tumors represent the major disease manifestation and syndromes with a predominance of non-thyroid neoplasms. Among the latter group, germline mutations in the DICER1 and PTEN genes are increasingly implicated in syndromic forms of follicular-derived thyroid disease. DICER1 syndrome and PTEN-hamartoma tumor syndrome, encompassing Cowden syndrome and related entities, confer a high organ-specific predisposition to benign and malignant thyroid lesions. Both syndromes demonstrate distinctive clinicopathologic patterns, including early-onset thyroid follicular nodular disease, multifocal follicular adenomas, and increased risk for thyroid malignancies. Recognizing clinical, anatomical, and histomorphological clues when evaluating thyroid specimens (particularly bilateral nodules, multinodularity, histologically distinct neoplasms, multiple adenomatous nodules, macrofollicular pattern, oncocytic features, unusual adenoma subtypes, young male gender, or early presentation) can prompt genetic evaluation. Here, we review the molecular pathogenesis, clinical features, histologic spectrum, and diagnostic strategies associated with familial follicular cell-derived thyroid tumors caused by DICER1 and PTEN germline alterations. Increased awareness of these entities by pathologists and clinicians is critical to ensure timely diagnosis, risk-appropriate surveillance, and cascade testing in affected families.
Clinicopathologic and molecular characterization of a series of sporadic trichoblastic neoplasms.
Trichoblastoma (TB) is a benign primitive follicular neoplasm that can occur in the setting of Brooke-Spiegler syndrome (CYLD mutations), in association with nevus sebaceous (mosaic HRAS mutations), or sporadically. We studied the histopathologic and molecular features of 16 sporadic trichoblastic neoplasms, including a case of trichogerminoma and a case of trichoblastic carcinoma arising within a TB. Sixteen tumors were identified in nine males and seven females (median age 64 years, range 33-97 years) involving the scalp (4), back (2), nasolabial fold (1), cheek (1), skin overlying the parotid gland (1), nasal ala (1), ear (1), upper chest (1), gluteal region (1), thigh (1), leg (1), and ankle (1) with a median size of 1.6 cm (range 1.2-7.0 cm). Histologically, 16 cases consisted of a dermal multinodular growth of basaloid epithelial cells surrounded by fibrotic stroma without epidermal connection. Malignant transformation was observed in one case, characterized by increased atypia and mitotic activity. Another case exhibited focal areas of "cell balls," indicative of trichogerminoma. RNA sequencing of six tumors showed a high tumor mutational burden (TMB) and lacked a UV-related mutational signature, which may help distinguish trichoblastic tumors from potential mimics. Additionally, a FOXK1::GRHL1 fusion was found in the case of trichogerminoma. Clinical follow-up (15/16 patients; 94%; median: 65 months; range 2.5-106.5 months) showed no evidence of residual or metastatic disease.
Publicações recentes
Ver todas no PubMed📚 EuropePMCmostrando 182
Daneman Syndrome Revisited.
The Journal of pediatricsDICER1 Syndrome With Embryonal Rhabdomyosarcoma of the Uterine Cervix and Retroperitoneal Metastasis: A Case Report and Literature Review.
Case reports in obstetrics and gynecologyLiver Lipodystrophy in Barraquer-Simons Syndrome: How Much Should We Worry About?
Life (Basel, Switzerland)Unmasking familial follicular cell-derived thyroid neoplasms associated with syndromes: DICER1 and PTEN-hamartoma tumor syndromes.
Virchows Archiv : an international journal of pathologyClinicopathologic and molecular characterization of a series of sporadic trichoblastic neoplasms.
Virchows Archiv : an international journal of pathologyA huge forgotten retrosternal goiter causing a superior vena cava syndrome after 20 years of thyroidectomy: A case report.
International journal of surgery case reportsIsolated multinodular goiter and follicular adenoma associated with a novel germline DICER1 variant: A benign presentation.
Cancer geneticsClinical and genetic features of a family with multinodular goiter harboring a DICER1 c.2035 A >G variant.
Thyroid researchPlummer-Vinson Syndrome With Coexistent Thyro-Cardiac Disease and Acute Decompensated Heart Failure: A Case Report.
Clinical case reportsA Gain-of-Function Mutation in Mechanistic Target of Rapamycin Results in a Tuberous Sclerosis Complex-Like Manifestation of Parenchymal Lung Disease.
ChestHorner's syndrome after an ultrasound-guided fine-needle aspiration puncture of a thyroid nodule.
Endocrinology, diabetes & metabolism case reportsHarlequin Syndrome Caused by Multinodular Goitre.
CureusA Novel Pathogenic Variant of DICER1 Gene in a Young Greek Patient with 2 Different Sex-Cord Ovarian Tumors and Multinodular Goiter.
International journal of molecular sciencesChronic Cough, Dyspnea, and a Novel CCDC39 Variant: A Case Report of Heterotaxy Syndrome Without Cardiac Anomalies and Associated Primary Ciliary Dyskinesia.
CureusThyroid surgery in pediatric age: a 10-year experience at a single center and literature review.
Journal of pediatric endocrinology & metabolism : JPEMThyroid metastasis of clear renal cell carcinoma: a case report and review of the literature.
The Pan African medical journalMacro-vacuolar steatosis in a cirrhotic liver mimicking metastatic disease.
Radiology case reportsA novel pathogenic DICER1 gene variant is associated with hereditary multinodular goiter in an Argentine family as evidenced by clinical, biochemical and molecular genetic analysis.
EndocrineConstitutional Mutation of PIK3CA: A Variant of Cowden Syndrome?
GenesLynch Syndrome and Thyroid Nodules: A Single Center Experience.
Genes[DICER1 syndrome: clinical variety endocrine manifestations and features of diagnostics].
Problemy endokrinologiiCase Report: A very rare case of a Pleural Effusion revealing Multiple Myeloma.
F1000ResearchPrevalence of metabolic syndrome among patients with hepatocellular carcinoma of different etiologies: a retrospective study.
Infectious agents and cancer[Topical Use of Cannabis in Inflammatory Diseases in patients of the IPS Salud Social in Barranquilla, Colombia].
Revista alergia Mexico (Tecamachalco, Puebla, Mexico : 1993)Ultrasound-Histopathological Presentation of Thyroid and Ovary Lesions in Adolescent Patients with DICER1 Syndrome: Case Reports and Literature Overview.
Children (Basel, Switzerland)Benign multinodular goitre presenting as acute decompensated type two respiratory failure.
BMJ case reportsVertebral metastasis of hepatocellular carcinoma secondary to viral hepatitis B: case report of 2 patients.
Wiadomosci lekarskie (Warsaw, Poland : 1960)Diagnosis of Thyroid Neoplasm-Associated Dermatomyositis in Ethiopian Woman.
International medical case reports journalExcision of Solitary Non-syndromic Oral Plexiform Neurofibroma Utilizing a Diode Laser: A Case Report.
CureusPrevalence of DICER1 variants in large multinodular goiter: thyroid function, clinical and imaging characteristics.
Archives of endocrinology and metabolismAn imaging review of the hippocampus and its common pathologies.
Journal of neuroimaging : official journal of the American Society of NeuroimagingHyperthyroidism incidence in a large population-based study in northeastern Italy.
Endocrine connectionsDICER1 Syndrome in Twins With Ovarian Sertoli-Leydig Cell Tumor and Papillary Thyroid Carcinoma.
CureusFamilial Gastrointestinal Stromal Tumor Associated with Zebra-like Pigmentation.
BiomedicinesCase Report - Multinodular goiter in a patient with Congenital Hypothyroidism and Bannayan-Riley-Ruvalcaba syndrome: the possible synergic role of TPO and PTEN mutation.
Frontiers in endocrinologyNovel pathogenic variant of DICER1 in an adolescent with multinodular goiter, ovarian Sertoli-Leydig cell tumor and pineal parenchymal tumor of intermediate differentiation.
Journal of pediatric endocrinology & metabolism : JPEMReclassification of two germline DICER1 splicing variants leads to DICER1 syndrome diagnosis.
Familial cancerPostoperative Hypocalcemia in Hyperthyroid Patients: The Parathyroids Aren't Always to Blame.
The Journal of surgical researchThyroid pathology, a clue to PTEN hamartoma tumor syndrome.
Journal of pathology and translational medicineSubsternal multinodular goiter resulting in superior vena cava syndrome and tracheal compression.
BMJ case reports[Long-Term Survival of a Patient with Hepatocellular Carcinoma after Surgical Resection of Metachronous Hilar Lymph Node Metastases].
Gan to kagaku ryoho. Cancer & chemotherapyGIANT MULTINODULAR GOITER IN COWDEN SYNDROME.
Acta endocrinologica (Bucharest, Romania : 2005)Thyroid findings in pediatric and adult patients with PTEN hamartoma tumor syndrome: A retrospective analysis, and literature review.
EndocrineChinese Pedigree with Hereditary Gastrointestinal Stromal Tumors: A Case Report and Literature Review.
International journal of molecular sciencesLhermitte-Duclos Disease Related With Cowden Syndrome Mimicking Metastatic Lung Cancer on FDG PET/CT.
Clinical nuclear medicineParaneoplastic syndrome due to angiomatoid fibrous histiocytoma: a known presentation of an uncommon diagnosis in a rare site and age.
BMJ case reports[Surgical treatment of a patient with stage v multinodular toxic goiter, severe thyrotoxicosis, strangulation syndrome and severe comorbidities].
KhirurgiiaDICER1 Mutations Occur in More Than One-Third of Follicular-Patterned Pediatric Papillary Thyroid Carcinomas and Correlate with a Low-Risk Disease and Female Gender Predilection.
Endocrine pathologyResistance to Thyroid Hormones: A Case-Series Study.
International journal of molecular sciencesUltrasound features of multinodular goiter in DICER1 syndrome.
Scientific reportsBilateral Ovarian Sertoli-Leydig Cell Tumors Harboring DICER1 Germline and Distinct Somatic Mutations: Case Report and Literature Review.
Fetal and pediatric pathologyGiant ovarian cystadenoma in association with Cowden syndrome.
Endokrynologia PolskaEmbryonal Rhabdomyosarcoma of the Uterine Cervix: A Clinicopathologic Study of 94 Cases Emphasizing Issues in Differential Diagnosis Staging, and Prognostic Factors.
The American journal of surgical pathologyEarly sixteenth century gargoyle figurine with evidence of massive multinodular hyper-vascularised goitre and superior vena cava syndrome.
Journal of endocrinological investigation[Early manifestation and progressive multicomponent current of McCune-Albright-Braitsev syndrome in a girl 9 years old: a clinical case and literature review].
Problemy endokrinologiiPaediatric thyroidectomy: When and why? A 25-year institutional experience.
Journal of pediatric surgeryUpdate from the 5th Edition of the World Health Organization Classification of Head and Neck Tumors: Familial Tumor Syndromes.
Head and neck pathologyProceedings of the North American Society of Head and Neck Pathology, Los Angeles, CA, March 20, 2022: DICER1-Related Thyroid Tumors.
Head and neck pathologySusceptibility Genes and Chromosomal Regions Associated With Non-Syndromic Familial Non-Medullary Thyroid Carcinoma: Some Pathogenetic and Diagnostic Keys.
Frontiers in endocrinologyPrimary Amenorrhea With Hypothyroidism: Finding the Cause.
CureusA case report of multiple endocrine neoplasia type 1 and autoimmune disease: Coincidence or correlation?
MedicineExtent of Extraskeletal Manifestations of Fibrous Dysplasia/McCune-Albright Syndrome in Patients with Mazabraud's Syndrome.
Calcified tissue internationalThyroid Gland Disease as a Comorbid Condition in COPD.
Pulmonary medicineRed flags for early recognition of adult patients with PTEN Hamartoma Tumour Syndrome.
European journal of medical geneticsDICER1 tumor predisposition syndrome: an evolving story initiated with the pleuropulmonary blastoma.
Modern pathology : an official journal of the United States and Canadian Academy of Pathology, IncExpanding the spectrum of thyroid carcinoma with somatic DICER1 mutation: a survey of 829 thyroid carcinomas using MSK-IMPACT next-generation sequencing platform.
Virchows Archiv : an international journal of pathologyPrevalence of Pathogenic Germline DICER1 Variants in Young Individuals Thyroidectomised Due to Goitre - A National Danish Cohort.
Frontiers in endocrinologyA Patient With Cowden Syndrome Presenting With a Multi-Nodular Goiter.
AACE clinical case reportsOvarian Sertoli-Leydig Cell Tumor, Multinodular Goiter, Cystic Nephromas and DICER1 Mutations: Case Report and Literature Review.
Pharmacogenomics and personalized medicineGenetic architecture and phenotypic landscape of SLC26A4-related hearing loss.
Human geneticsUnusual phenotypes in patients with a pathogenic germline variant in DICER1.
Familial cancerAchalasia and acromegaly: Co-incidence of these diseases or a new syndrome?
Biomedical papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia"Thyroid nodular disease and PTEN mutation in a multicentre series of children with PTEN hamartoma tumor syndrome (PHTS)".
EndocrineIntrathyroidal Thymus (Incidentaloma) Mimicking Thyroid Neoplasia in DICER1 Syndrome.
European thyroid journalFollicular thyroid cancer in a patient with Pendred syndrome.
Annales d'endocrinologieMacrofollicular variant follicular thyroid tumors are DICER1 mutated and exhibit distinct histological features.
HistopathologyA rare mutation of thyroid hormone receptor beta gene in thyroid hormone resistance syndrome.
Endocrinology, diabetes & metabolism case reportsA double blinded placebo controlled comparative clinical trial to evaluate the effectiveness of Siddha medicines, Kaba Sura Kudineer (KSK) & Nilavembu Kudineer (NVK) along with standard Allopathy treatment in the management of symptomatic COVID 19 patients - a structured summary of a study protocol for a randomized controlled trial.
TrialsDICER1 Syndrome and Cancer Predisposition: From a Rare Pediatric Tumor to Lifetime Risk.
Frontiers in oncologyThyroid surgery in pediatric patients: causes and results.
Cirugia pediatrica : organo oficial de la Sociedad Espanola de Cirugia PediatricaPrevalence and Spectrum of DICER1 Mutations in Adult-onset Thyroid Nodules with Indeterminate Cytology.
The Journal of clinical endocrinology and metabolism[Acute myocardial infarction without obstructive coronary disease secondary to thyrotoxicosis due to toxic multinodular goiter].
Archivos peruanos de cardiologia y cirugia cardiovascularLung cyst and multinodular thyroid goiter: Keys to DICER1 syndrome diagnosis in a 16-year-old female.
Clinical case reports[Epidemiology and results of surgical treatment of euthyroid and toxic goiter depending on the peculiarities of clinical course, tracheal compression and comorbidity].
Problemy endokrinologiiAn autopsy case of prostatic rhabdomyosarcoma with DICER1 hotspot mutation.
Pathology internationalOccurrence and Natural History of Thyroid Cancer in Patients with Cowden Syndrome.
European thyroid journalA Japanese Family with DICER1 Syndrome Found in Childhood-Onset Multinodular Goitre.
Hormone research in paediatricsA PATIENT WITH AN ATYPIC NECK MASS LESION.
Acta endocrinologica (Bucharest, Romania : 2005)DICER1-associated metastatic abdominopelvic primitive neuroectodermal tumor with an EWSR1 rearrangement in a 16-yr-old female.
Cold Spring Harbor molecular case studiesAvascular Necrosis of Both Hips From Iatrogenic Cushing 's Syndrome due to Coadministration of Fluticasone and Ritonavir in an HIV-Infected Patient.
CureusCytomorphologic features of thyroid disease in patients with DICER1 mutations: A report of cytology-histopathology correlation in 7 patients.
Cancer cytopathologyDICER1 gene alterations in thyroid diseases.
Cancer cytopathologyRare Germline DICER1 Variants in Pediatric Patients With Cushing's Disease: What Is Their Role?
Frontiers in endocrinologyCHEK2 Mutation in Patient with Multiple Endocrine Glands Tumors. Case Report.
International journal of environmental research and public healthEndocrine surgery during COVID-19 pandemic: do we need an update of indications in Italy?
EndocrineInfluence of gender and women's age on the prevalence of parathyroid failure after total thyroidectomy for multinodular goiter.
Gland surgeryAdvanced multiparametric magnetic resonance imaging of multinodular and vacuolating neuronal tumor.
European journal of neurologyPredominant DICER1 Pathogenic Variants in Pediatric Follicular Thyroid Carcinomas.
Thyroid : official journal of the American Thyroid Association[Hereditary predispositions to follicular thyroid tumors].
Annales de pathologieBenzylthiouracil-induced ANCA-associated Vasculitis: A Case Report and Literature Review.
European journal of case reports in internal medicineDGCR8 microprocessor defect characterizes familial multinodular goiter with schwannomatosis.
The Journal of clinical investigationConcomitant medullary thyroid carcinoma with paraganglioma-like pattern and papillary thyroid carcinoma.
Endocrinology, diabetes & metabolism case reportsTransarterial Chemoembolisation (TACE) with Degradable Starch Microspheres (DSM) and Anthracycline in Patients with Locally Extensive Hepatocellular Carcinoma (HCC): Safety and Efficacy.
Cardiovascular and interventional radiologyInflammatory myofibroblastic tumor of the pancreas in a dog.
Journal of veterinary diagnostic investigation : official publication of the American Association of Veterinary Laboratory Diagnosticians, IncMultinodular and Vacuolating Posterior Fossa Lesions of Unknown Significance.
AJNR. American journal of neuroradiologyIntraductal sebaceous papilloma of a meibomian gland: a new entity possibly associated with the MSH6 subtype of the Muir-Torre syndrome.
Survey of ophthalmologyARMC5 Alterations in Primary Macronodular Adrenal Hyperplasia (PMAH) and the Clinical State of Variant Carriers.
Journal of the Endocrine SocietyAcromegaly and ultrasound: how, when and why?
Journal of endocrinological investigationMultinodular goitre is a gateway for molecular testing of DICER1 syndrome.
Clinical endocrinologyLeiomyoma development in Mayer-Rokitansky-Küster-Hauser syndrome: a case report and a narrative review of the literature.
Obstetrics & gynecology scienceA family with Sertoli-Leydig cell tumour, multinodular goiter, and DICER1 mutation.
Current oncology (Toronto, Ont.)SLC26A4-linked CEVA haplotype correlates with phenotype in patients with enlargement of the vestibular aqueduct.
BMC medical geneticsSuccinate Dehydrogenase-Deficient Gastrointestinal Stromal Tumors.
Archives of pathology & laboratory medicineExophthalmos and multinodular goitre, an unusual combination.
Endocrinology, diabetes & metabolism case reportsAn update on the central nervous system manifestations of DICER1 syndrome.
Acta neuropathologicaSyndrome of thyrotoxicosis. Differential diagnosis and treatment.
Terapevticheskii arkhivMyeloid Sarcoma with Megakaryoblastic Differentiation Arising in the Conjunctiva.
Ocular oncology and pathologyThe association of other autoimmune diseases in patients with Graves' disease (with or without ophthalmopathy): Review of the literature and report of a large series.
Autoimmunity reviewsGranular cell tumor of the lung.
Diagnostic cytopathologyTotal thyroidectomys in patient with McArdle's syndrome: Anesthetic management.
Revista espanola de anestesiologia y reanimacionDevelopment of metabolic syndrome after bilateral total thyroidectomy despite the L-t4 replacement therapy: A prospective study.
Turkish journal of surgeryConsiderations for total thyroidectomy in an adolescent with PTEN mutation.
Therapeutic advances in endocrinology and metabolismGlucocorticoid resistance syndrome caused by a novel NR3C1 point mutation.
Endocrine journalAggressive melanoma in an infant with congenital melanocytic nevus syndrome and multiple, NRAS and BRAF mutation-negative nodules.
Pediatric dermatology[A family with a congenital DICER1 mutation].
Ugeskrift for laegerIdentification of two 14q32 deletions involving DICER1 associated with the development of DICER1-related tumors.
European journal of medical geneticsA Case Report of Syndromic Multinodular Goitre in Adolescence: Exploring the Phenotype Overlap between Cowden and DICER1 Syndromes.
European thyroid journalMultinodular Goiter Progression Toward Malignancy in a Case of DICER1 Syndrome: Histologic and Molecular Alterations.
American journal of clinical pathologyNew clinicopathological associations and histoprognostic markers in ILAE types of hippocampal sclerosis.
Brain pathology (Zurich, Switzerland)Ninety-year-old man with hypereosinophilia, lymphadenopathies and pruritus.
BMJ case reportsReappraisal of Morphologic Differences Between Renal Medullary Carcinoma, Collecting Duct Carcinoma, and Fumarate Hydratase-deficient Renal Cell Carcinoma.
The American journal of surgical pathologyHereditary and familial thyroid tumours.
HistopathologyFamilial multinodular goiter and Sertoli-Leydig cell tumors associated with a large intragenic in-frame DICER1 deletion.
European journal of endocrinologyA primary hepatic gastrinoma accompanied by hyperplasia of multi-nodular Brunner's glands.
Surgical case reportsRelationship between metabolic syndrome and nodular thyroid diseases.
Scandinavian journal of clinical and laboratory investigationMultinodular and vacuolating neuronal tumor in an adolescent with Klinefelter syndrome.
NeuroradiologyAcute kidney injury with granulomatous interstitial nephritis and vasculitis revealing sarcoidosis.
Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi ArabiaSymptomatic Long Pauses and Bradycardia due to Massive Multinodular Goiter.
Case reports in cardiologySerum leptin levels and GHR-d3/fl gene polymorphism in acromegalic patients with thyroid nodules.
Advances in clinical and experimental medicine : official organ Wroclaw Medical UniversityA case of neuroblastoma in DICER1 syndrome: Chance finding or noncanonical causation?
Pediatric blood & cancerPharyngolaryngeal symptoms associated with thyroid disease.
Current opinion in otolaryngology & head and neck surgeryCirculating levels of PTEN and KLLN in papillary thyroid carcinoma: can they be considered as novel diagnostic biomarkers?
EndocrineA pair of DICER1-positive monozygotic twins: One with pleuropulmonary blastoma, another with acute transient hepatitis.
Pediatric blood & cancerMultinodular liver involvement in Abernethy syndrome.
Hepatobiliary surgery and nutritionA rare presentation: A case report of osseous metaplasia and mature bone formation in a follicular adenoma of the thyroid.
International journal of surgery case reportsPTEN, DICER1, FH, and Their Associated Tumor Susceptibility Syndromes: Clinical Features, Genetics, and Surveillance Recommendations in Childhood.
Clinical cancer research : an official journal of the American Association for Cancer Research[The laryngeal condition in the patients presenting with euthyroid multinodular goiter as evaluated by direct laryngoscopy].
Vestnik otorinolaringologii[A Familial Non Medullary Thyroid Carcinoma (FNMTC) : a clinical and genetic update].
Revue medicale de LiegeQuantification of Thyroid Cancer and Multinodular Goiter Risk in the DICER1 Syndrome: A Family-Based Cohort Study.
The Journal of clinical endocrinology and metabolismHow to recognize Cowden syndrome: A novel PTEN mutation description.
Annales d'endocrinologieIdentification of somatic and germ-line DICER1 mutations in pleuropulmonary blastoma, cystic nephroma and rhabdomyosarcoma tumors within a DICER1 syndrome pedigree.
BMC cancerBilateral brachiocephalic vein compression: an unusual and rare presentation of multinodular goitre.
BMJ case reportsShould the Prevalence of Incidental Thyroid Cancer Determine the Extent of Surgery in Multinodular Goiter?
PloS oneHorner's syndrome: an unusual complication of thyroidectomy: a case report.
Journal of medical case reportsSyndrome of Reduced Sensitivity to Thyroid Hormones: Two Case Reports and a Literature Review.
Case reports in endocrinology[What would you do in front of a patient with a Horner syndrome?].
SemergenFluorine-18 fluorocholine PET-CT localizes hyperparathyroidism in patients with inconclusive conventional imaging: a multicenter study from the Netherlands.
Nuclear medicine communicationsAssociation of parathyroid carcinoma and thyroid disorders: A clinical review.
EndocrineA case of asystole from carotid sinus hypersensitivity during patient positioning for thyroidectomy.
BMC anesthesiology[Rarer causes of thyrotoxicosis].
Przeglad lekarskiMulti-organ benign and malignant tumors: recognizing Cowden syndrome: a case report and review of the literature.
BMC research notesDeep Sequencing Reveals Spatially Distributed Distinct Hot Spot Mutations in DICER1-Related Multinodular Goiter.
The Journal of clinical endocrinology and metabolismQuadruple-Negative GIST Is a Sentinel for Unrecognized Neurofibromatosis Type 1 Syndrome.
Clinical cancer research : an official journal of the American Association for Cancer ResearchConventional Risk Stratification Fails to Predict Progression of Succinate Dehydrogenase-deficient Gastrointestinal Stromal Tumors: A Clinicopathologic Study of 76 Cases.
The American journal of surgical pathologyNeck Kaposiform haemangioendothelioma in a Fischer's lovebird (Agapornis fischeri).
Research in veterinary scienceA multicenter experience on the prevalence of ARMC5 mutations in patients with primary bilateral macronodular adrenal hyperplasia: from genetic characterization to clinical phenotype.
EndocrineMeigs Syndrome Superimposed on Gorlin Syndrome in a 14-Year-Old Girl.
Journal of pediatric and adolescent gynecologyThe co-occurrence of an ovarian Sertoli-Leydig cell tumor with a thyroid carcinoma is highly suggestive of a DICER1 syndrome.
Virchows Archiv : an international journal of pathologyGermline and Somatic DICER1 Mutations in a Well-Differentiated Fetal Adenocarcinoma of the Lung.
Journal of thoracic oncology : official publication of the International Association for the Study of Lung CancerMultinodular Goiter Spontaneous Hemorrhage in ESRD Patients Result in Acute Respiratory Failure: A Case Report.
MedicineAggressive Extraocular Sebaceous Carcinoma of the Scalp Involving the Brain in a Patient With Muir-Torre Syndrome.
The American Journal of dermatopathologyPercutaneous Treatment of Localized Infiltrative Hepatocellular Carcinoma Developing on Cirrhosis.
Annals of surgical oncologyDICER1 syndrome can mimic different genetic tumor predispositions.
Cancer lettersDICER1 Mutations and Differentiated Thyroid Carcinoma: Evidence of a Direct Association.
The Journal of clinical endocrinology and metabolismResidual manifestations of hypercortisolemia following surgical treatment in a patient with Cushing syndrome.
International journal of pediatric endocrinologyCardiothyreosis: Pathogenic Conjectures, Clinical Aspects and Surgical Approach.
Chirurgia (Bucharest, Romania : 1990)Thyroid Pathology Findings in Cowden Syndrome: A Clue for the Diagnosis of the PTEN Hamartoma Tumor Syndrome.
American journal of clinical pathologyCowden Syndrome with a Novel Germline PTEN Mutation and an Unusual Clinical Course.
Annals of dermatologyOvarian embryonal rhabdomyosarcoma is a rare manifestation of the DICER1 syndrome.
Human pathologyGammaherpesvirus infections in equids: a review.
Veterinary medicine (Auckland, N.Z.)A lethal complication after transarterial chemoembolization with drug-eluting beads for hepatocellular carcinoma.
Case reports in surgeryA rare soft tissue tumor masquerading as a parathyroid adenoma in a patient with birt-hogg-dubé syndrome and multiple cervical endocrinopathies.
Case reports in pathologyAssociações
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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.
- Daneman Syndrome Revisited.
- DICER1 Syndrome With Embryonal Rhabdomyosarcoma of the Uterine Cervix and Retroperitoneal Metastasis: A Case Report and Literature Review.
- Liver Lipodystrophy in Barraquer-Simons Syndrome: How Much Should We Worry About?
- Unmasking familial follicular cell-derived thyroid neoplasms associated with syndromes: DICER1 and PTEN-hamartoma tumor syndromes.
- Clinicopathologic and molecular characterization of a series of sporadic trichoblastic neoplasms.
- The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:2091(Orphanet)
- OMIM OMIM:138790(OMIM)
- MONDO:0007680(MONDO)
- GARD:1671(GARD (NIH))
- Busca completa no PubMed(PubMed)
- Q55780823(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