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Síndrome de bócio multinodular-rim cístico-polidactilia
ORPHA:2091CID-10 · Q87.8OMIM 138790DOENÇA RARA

A síndrome bócio multinodular - rim cístico - polidactilia é uma síndrome muito rara caracterizada pela associação de bócio multinodular, doença renal cística e anomalias digitais.

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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

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
3
pacientes catalogados
Início
Antenatal
+ neonatal
🏥
SUS: Cobertura mínimaScore: 15%
CID-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
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Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Características mais comuns

55%prev.
Displasia renal multicística
Frequente (79-30%)
55%prev.
Polegar trifalângico
Frequente (79-30%)
55%prev.
Bócio multinodular
Frequente (79-30%)
55%prev.
Polidactilia pré-axial do pé
Frequente (79-30%)
55%prev.
Polidactilia pós-axial da mão
Frequente (79-30%)
5sintomas
Frequente (5)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 5 características clínicas mais associadas, ordenadas por frequência.

Displasia renal multicísticaMulticystic kidney dysplasia
Frequente (79-30%)55%
Polegar trifalângicoTriphalangeal thumb
Frequente (79-30%)55%
Bócio multinodularMultinodular goiter
Frequente (79-30%)55%
Polidactilia pré-axial do péPreaxial foot polydactyly
Frequente (79-30%)55%
Polidactilia pós-axial da mãoPostaxial hand polydactyly
Frequente (79-30%)55%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Últimos 10 anos184publicações
Pico202024 papers
Linha do tempo
2026Hoje · 2026📈 2020Ano de pico
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 de bócio multinodular-rim cístico-polidactilia

🗺️

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

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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

Daneman Syndrome Revisited.

The Journal of pediatrics2026 Mar 19
#2

DICER1 Syndrome With Embryonal Rhabdomyosarcoma of the Uterine Cervix and Retroperitoneal Metastasis: A Case Report and Literature Review.

Case reports in obstetrics and gynecology2026

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.

#3

Liver Lipodystrophy in Barraquer-Simons Syndrome: How Much Should We Worry About?

Life (Basel, Switzerland)2026 Jan 17

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.

#4

Unmasking familial follicular cell-derived thyroid neoplasms associated with syndromes: DICER1 and PTEN-hamartoma tumor syndromes.

Virchows Archiv : an international journal of pathology2026 Jan

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.

#5

Clinicopathologic and molecular characterization of a series of sporadic trichoblastic neoplasms.

Virchows Archiv : an international journal of pathology2026 Mar

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

2026

Daneman Syndrome Revisited.

The Journal of pediatrics
2026

DICER1 Syndrome With Embryonal Rhabdomyosarcoma of the Uterine Cervix and Retroperitoneal Metastasis: A Case Report and Literature Review.

Case reports in obstetrics and gynecology
2026

Liver Lipodystrophy in Barraquer-Simons Syndrome: How Much Should We Worry About?

Life (Basel, Switzerland)
2026

Unmasking familial follicular cell-derived thyroid neoplasms associated with syndromes: DICER1 and PTEN-hamartoma tumor syndromes.

Virchows Archiv : an international journal of pathology
2026

Clinicopathologic and molecular characterization of a series of sporadic trichoblastic neoplasms.

Virchows Archiv : an international journal of pathology
2025

A huge forgotten retrosternal goiter causing a superior vena cava syndrome after 20 years of thyroidectomy: A case report.

International journal of surgery case reports
2025

Isolated multinodular goiter and follicular adenoma associated with a novel germline DICER1 variant: A benign presentation.

Cancer genetics
2025

Clinical and genetic features of a family with multinodular goiter harboring a DICER1 c.2035 A >G variant.

Thyroid research
2025

Plummer-Vinson Syndrome With Coexistent Thyro-Cardiac Disease and Acute Decompensated Heart Failure: A Case Report.

Clinical case reports
2025

A Gain-of-Function Mutation in Mechanistic Target of Rapamycin Results in a Tuberous Sclerosis Complex-Like Manifestation of Parenchymal Lung Disease.

Chest
2025

Horner's syndrome after an ultrasound-guided fine-needle aspiration puncture of a thyroid nodule.

Endocrinology, diabetes &amp; metabolism case reports
2025

Harlequin Syndrome Caused by Multinodular Goitre.

Cureus
2025

A 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 sciences
2024

Chronic Cough, Dyspnea, and a Novel CCDC39 Variant: A Case Report of Heterotaxy Syndrome Without Cardiac Anomalies and Associated Primary Ciliary Dyskinesia.

Cureus
2025

Thyroid surgery in pediatric age: a 10-year experience at a single center and literature review.

Journal of pediatric endocrinology &amp; metabolism : JPEM
2024

Thyroid metastasis of clear renal cell carcinoma: a case report and review of the literature.

The Pan African medical journal
2025

Macro-vacuolar steatosis in a cirrhotic liver mimicking metastatic disease.

Radiology case reports
2025

A novel pathogenic DICER1 gene variant is associated with hereditary multinodular goiter in an Argentine family as evidenced by clinical, biochemical and molecular genetic analysis.

Endocrine
2024

Constitutional Mutation of PIK3CA: A Variant of Cowden Syndrome?

Genes
2024

Lynch Syndrome and Thyroid Nodules: A Single Center Experience.

Genes
2023

[DICER1 syndrome: clinical variety endocrine manifestations and features of diagnostics].

Problemy endokrinologii
2023

Case Report: A very rare case of a Pleural Effusion revealing Multiple Myeloma.

F1000Research
2024

Prevalence of metabolic syndrome among patients with hepatocellular carcinoma of different etiologies: a retrospective study.

Infectious agents and cancer
2024

[Topical Use of Cannabis in Inflammatory Diseases in patients of the IPS Salud Social in Barranquilla, Colombia].

Revista alergia Mexico (Tecamachalco, Puebla, Mexico : 1993)
2024

Ultrasound-Histopathological Presentation of Thyroid and Ovary Lesions in Adolescent Patients with DICER1 Syndrome: Case Reports and Literature Overview.

Children (Basel, Switzerland)
2024

Benign multinodular goitre presenting as acute decompensated type two respiratory failure.

BMJ case reports
2024

Vertebral metastasis of hepatocellular carcinoma secondary to viral hepatitis B: case report of 2 patients.

Wiadomosci lekarskie (Warsaw, Poland : 1960)
2024

Diagnosis of Thyroid Neoplasm-Associated Dermatomyositis in Ethiopian Woman.

International medical case reports journal
2024

Excision of Solitary Non-syndromic Oral Plexiform Neurofibroma Utilizing a Diode Laser: A Case Report.

Cureus
2024

Prevalence of DICER1 variants in large multinodular goiter: thyroid function, clinical and imaging characteristics.

Archives of endocrinology and metabolism
2024

An imaging review of the hippocampus and its common pathologies.

Journal of neuroimaging : official journal of the American Society of Neuroimaging
2023

Hyperthyroidism incidence in a large population-based study in northeastern Italy.

Endocrine connections
2023

DICER1 Syndrome in Twins With Ovarian Sertoli-Leydig Cell Tumor and Papillary Thyroid Carcinoma.

Cureus
2023

Familial Gastrointestinal Stromal Tumor Associated with Zebra-like Pigmentation.

Biomedicines
2023

Case 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 endocrinology
2023

Novel 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 &amp; metabolism : JPEM
2023

Reclassification of two germline DICER1 splicing variants leads to DICER1 syndrome diagnosis.

Familial cancer
2023

Postoperative Hypocalcemia in Hyperthyroid Patients: The Parathyroids Aren't Always to Blame.

The Journal of surgical research
2023

Thyroid pathology, a clue to PTEN hamartoma tumor syndrome.

Journal of pathology and translational medicine
2023

Substernal multinodular goiter resulting in superior vena cava syndrome and tracheal compression.

BMJ case reports
2022

[Long-Term Survival of a Patient with Hepatocellular Carcinoma after Surgical Resection of Metachronous Hilar Lymph Node Metastases].

Gan to kagaku ryoho. Cancer &amp; chemotherapy
2022

GIANT MULTINODULAR GOITER IN COWDEN SYNDROME.

Acta endocrinologica (Bucharest, Romania : 2005)
2023

Thyroid findings in pediatric and adult patients with PTEN hamartoma tumor syndrome: A retrospective analysis, and literature review.

Endocrine
2023

Chinese Pedigree with Hereditary Gastrointestinal Stromal Tumors: A Case Report and Literature Review.

International journal of molecular sciences
2023

Lhermitte-Duclos Disease Related With Cowden Syndrome Mimicking Metastatic Lung Cancer on FDG PET/CT.

Clinical nuclear medicine
2022

Paraneoplastic syndrome due to angiomatoid fibrous histiocytoma: a known presentation of an uncommon diagnosis in a rare site and age.

BMJ case reports
2023

[Surgical treatment of a patient with stage v multinodular toxic goiter, severe thyrotoxicosis, strangulation syndrome and severe comorbidities].

Khirurgiia
2022

DICER1 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 pathology
2022

Resistance to Thyroid Hormones: A Case-Series Study.

International journal of molecular sciences
2022

Ultrasound features of multinodular goiter in DICER1 syndrome.

Scientific reports
2023

Bilateral Ovarian Sertoli-Leydig Cell Tumors Harboring DICER1 Germline and Distinct Somatic Mutations: Case Report and Literature Review.

Fetal and pediatric pathology
2022

Giant ovarian cystadenoma in association with Cowden syndrome.

Endokrynologia Polska
2022

Embryonal 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 pathology
2023

Early sixteenth century gargoyle figurine with evidence of massive multinodular hyper-vascularised goitre and superior vena cava syndrome.

Journal of endocrinological investigation
2021

[Early manifestation and progressive multicomponent current of McCune-Albright-Braitsev syndrome in a girl 9 years old: a clinical case and literature review].

Problemy endokrinologii
2022

Paediatric thyroidectomy: When and why? A 25-year institutional experience.

Journal of pediatric surgery
2022

Update from the 5th Edition of the World Health Organization Classification of Head and Neck Tumors: Familial Tumor Syndromes.

Head and neck pathology
2022

Proceedings of the North American Society of Head and Neck Pathology, Los Angeles, CA, March 20, 2022: DICER1-Related Thyroid Tumors.

Head and neck pathology
2022

Susceptibility Genes and Chromosomal Regions Associated With Non-Syndromic Familial Non-Medullary Thyroid Carcinoma: Some Pathogenetic and Diagnostic Keys.

Frontiers in endocrinology
2021

Primary Amenorrhea With Hypothyroidism: Finding the Cause.

Cureus
2021

A case report of multiple endocrine neoplasia type 1 and autoimmune disease: Coincidence or correlation?

Medicine
2022

Extent of Extraskeletal Manifestations of Fibrous Dysplasia/McCune-Albright Syndrome in Patients with Mazabraud's Syndrome.

Calcified tissue international
2021

Thyroid Gland Disease as a Comorbid Condition in COPD.

Pulmonary medicine
2021

Red flags for early recognition of adult patients with PTEN Hamartoma Tumour Syndrome.

European journal of medical genetics
2022

DICER1 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, Inc
2022

Expanding 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 pathology
2021

Prevalence of Pathogenic Germline DICER1 Variants in Young Individuals Thyroidectomised Due to Goitre - A National Danish Cohort.

Frontiers in endocrinology
2021

A Patient With Cowden Syndrome Presenting With a Multi-Nodular Goiter.

AACE clinical case reports
2021

Ovarian Sertoli-Leydig Cell Tumor, Multinodular Goiter, Cystic Nephromas and DICER1 Mutations: Case Report and Literature Review.

Pharmacogenomics and personalized medicine
2022

Genetic architecture and phenotypic landscape of SLC26A4-related hearing loss.

Human genetics
2023

Unusual phenotypes in patients with a pathogenic germline variant in DICER1.

Familial cancer
2022

Achalasia and acromegaly: Co-incidence of these diseases or a new syndrome?

Biomedical papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia
2021

"Thyroid nodular disease and PTEN mutation in a multicentre series of children with PTEN hamartoma tumor syndrome (PHTS)".

Endocrine
2021

Intrathyroidal Thymus (Incidentaloma) Mimicking Thyroid Neoplasia in DICER1 Syndrome.

European thyroid journal
2021

Follicular thyroid cancer in a patient with Pendred syndrome.

Annales d'endocrinologie
2021

Macrofollicular variant follicular thyroid tumors are DICER1 mutated and exhibit distinct histological features.

Histopathology
2021

A rare mutation of thyroid hormone receptor beta gene in thyroid hormone resistance syndrome.

Endocrinology, diabetes &amp; metabolism case reports
2021

A 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.

Trials
2020

DICER1 Syndrome and Cancer Predisposition: From a Rare Pediatric Tumor to Lifetime Risk.

Frontiers in oncology
2021

Thyroid surgery in pediatric patients: causes and results.

Cirugia pediatrica : organo oficial de la Sociedad Espanola de Cirugia Pediatrica
2021

Prevalence and Spectrum of DICER1 Mutations in Adult-onset Thyroid Nodules with Indeterminate Cytology.

The Journal of clinical endocrinology and metabolism
2020

[Acute myocardial infarction without obstructive coronary disease secondary to thyrotoxicosis due to toxic multinodular goiter].

Archivos peruanos de cardiologia y cirugia cardiovascular
2020

Lung cyst and multinodular thyroid goiter: Keys to DICER1 syndrome diagnosis in a 16-year-old female.

Clinical case reports
2020

[Epidemiology and results of surgical treatment of euthyroid and toxic goiter depending on the peculiarities of clinical course, tracheal compression and comorbidity].

Problemy endokrinologii
2021

An autopsy case of prostatic rhabdomyosarcoma with DICER1 hotspot mutation.

Pathology international
2020

Occurrence and Natural History of Thyroid Cancer in Patients with Cowden Syndrome.

European thyroid journal
2020

A Japanese Family with DICER1 Syndrome Found in Childhood-Onset Multinodular Goitre.

Hormone research in paediatrics
2020

A PATIENT WITH AN ATYPIC NECK MASS LESION.

Acta endocrinologica (Bucharest, Romania : 2005)
2020

DICER1-associated metastatic abdominopelvic primitive neuroectodermal tumor with an EWSR1 rearrangement in a 16-yr-old female.

Cold Spring Harbor molecular case studies
2020

Avascular Necrosis of Both Hips From Iatrogenic Cushing 's Syndrome due to Coadministration of Fluticasone and Ritonavir in an HIV-Infected Patient.

Cureus
2020

Cytomorphologic features of thyroid disease in patients with DICER1 mutations: A report of cytology-histopathology correlation in 7 patients.

Cancer cytopathology
2020

DICER1 gene alterations in thyroid diseases.

Cancer cytopathology
2020

Rare Germline DICER1 Variants in Pediatric Patients With Cushing's Disease: What Is Their Role?

Frontiers in endocrinology
2020

CHEK2 Mutation in Patient with Multiple Endocrine Glands Tumors. Case Report.

International journal of environmental research and public health
2020

Endocrine surgery during COVID-19 pandemic: do we need an update of indications in Italy?

Endocrine
2020

Influence of gender and women's age on the prevalence of parathyroid failure after total thyroidectomy for multinodular goiter.

Gland surgery
2020

Advanced multiparametric magnetic resonance imaging of multinodular and vacuolating neuronal tumor.

European journal of neurology
2020

Predominant DICER1 Pathogenic Variants in Pediatric Follicular Thyroid Carcinomas.

Thyroid : official journal of the American Thyroid Association
2020

[Hereditary predispositions to follicular thyroid tumors].

Annales de pathologie
2019

Benzylthiouracil-induced ANCA-associated Vasculitis: A Case Report and Literature Review.

European journal of case reports in internal medicine
2020

DGCR8 microprocessor defect characterizes familial multinodular goiter with schwannomatosis.

The Journal of clinical investigation
2019

Concomitant medullary thyroid carcinoma with paraganglioma-like pattern and papillary thyroid carcinoma.

Endocrinology, diabetes &amp; metabolism case reports
2020

Transarterial Chemoembolisation (TACE) with Degradable Starch Microspheres (DSM) and Anthracycline in Patients with Locally Extensive Hepatocellular Carcinoma (HCC): Safety and Efficacy.

Cardiovascular and interventional radiology
2019

Inflammatory myofibroblastic tumor of the pancreas in a dog.

Journal of veterinary diagnostic investigation : official publication of the American Association of Veterinary Laboratory Diagnosticians, Inc
2019

Multinodular and Vacuolating Posterior Fossa Lesions of Unknown Significance.

AJNR. American journal of neuroradiology
2020

Intraductal sebaceous papilloma of a meibomian gland: a new entity possibly associated with the MSH6 subtype of the Muir-Torre syndrome.

Survey of ophthalmology
2019

ARMC5 Alterations in Primary Macronodular Adrenal Hyperplasia (PMAH) and the Clinical State of Variant Carriers.

Journal of the Endocrine Society
2020

Acromegaly and ultrasound: how, when and why?

Journal of endocrinological investigation
2019

Multinodular goitre is a gateway for molecular testing of DICER1 syndrome.

Clinical endocrinology
2019

Leiomyoma development in Mayer-Rokitansky-Küster-Hauser syndrome: a case report and a narrative review of the literature.

Obstetrics &amp; gynecology science
2019

A family with Sertoli-Leydig cell tumour, multinodular goiter, and DICER1 mutation.

Current oncology (Toronto, Ont.)
2019

SLC26A4-linked CEVA haplotype correlates with phenotype in patients with enlargement of the vestibular aqueduct.

BMC medical genetics
2020

Succinate Dehydrogenase-Deficient Gastrointestinal Stromal Tumors.

Archives of pathology &amp; laboratory medicine
2019

Exophthalmos and multinodular goitre, an unusual combination.

Endocrinology, diabetes &amp; metabolism case reports
2020

An update on the central nervous system manifestations of DICER1 syndrome.

Acta neuropathologica
2018

Syndrome of thyrotoxicosis. Differential diagnosis and treatment.

Terapevticheskii arkhiv
2019

Myeloid Sarcoma with Megakaryoblastic Differentiation Arising in the Conjunctiva.

Ocular oncology and pathology
2019

The 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 reviews
2019

Granular cell tumor of the lung.

Diagnostic cytopathology
2019

Total thyroidectomys in patient with McArdle's syndrome: Anesthetic management.

Revista espanola de anestesiologia y reanimacion
2018

Development of metabolic syndrome after bilateral total thyroidectomy despite the L-t4 replacement therapy: A prospective study.

Turkish journal of surgery
2018

Considerations for total thyroidectomy in an adolescent with PTEN mutation.

Therapeutic advances in endocrinology and metabolism
2018

Glucocorticoid resistance syndrome caused by a novel NR3C1 point mutation.

Endocrine journal
2018

Aggressive melanoma in an infant with congenital melanocytic nevus syndrome and multiple, NRAS and BRAF mutation-negative nodules.

Pediatric dermatology
2018

[A family with a congenital DICER1 mutation].

Ugeskrift for laeger
2019

Identification of two 14q32 deletions involving DICER1 associated with the development of DICER1-related tumors.

European journal of medical genetics
2018

A Case Report of Syndromic Multinodular Goitre in Adolescence: Exploring the Phenotype Overlap between Cowden and DICER1 Syndromes.

European thyroid journal
2018

Multinodular Goiter Progression Toward Malignancy in a Case of DICER1 Syndrome: Histologic and Molecular Alterations.

American journal of clinical pathology
2018

New clinicopathological associations and histoprognostic markers in ILAE types of hippocampal sclerosis.

Brain pathology (Zurich, Switzerland)
2018

Ninety-year-old man with hypereosinophilia, lymphadenopathies and pruritus.

BMJ case reports
2018

Reappraisal of Morphologic Differences Between Renal Medullary Carcinoma, Collecting Duct Carcinoma, and Fumarate Hydratase-deficient Renal Cell Carcinoma.

The American journal of surgical pathology
2018

Hereditary and familial thyroid tumours.

Histopathology
2018

Familial multinodular goiter and Sertoli-Leydig cell tumors associated with a large intragenic in-frame DICER1 deletion.

European journal of endocrinology
2017

A primary hepatic gastrinoma accompanied by hyperplasia of multi-nodular Brunner's glands.

Surgical case reports
2018

Relationship between metabolic syndrome and nodular thyroid diseases.

Scandinavian journal of clinical and laboratory investigation
2017

Multinodular and vacuolating neuronal tumor in an adolescent with Klinefelter syndrome.

Neuroradiology
2017

Acute 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 Arabia
2017

Symptomatic Long Pauses and Bradycardia due to Massive Multinodular Goiter.

Case reports in cardiology
2017

Serum leptin levels and GHR-d3/fl gene polymorphism in acromegalic patients with thyroid nodules.

Advances in clinical and experimental medicine : official organ Wroclaw Medical University
2018

A case of neuroblastoma in DICER1 syndrome: Chance finding or noncanonical causation?

Pediatric blood &amp; cancer
2017

Pharyngolaryngeal symptoms associated with thyroid disease.

Current opinion in otolaryngology &amp; head and neck surgery
2017

Circulating levels of PTEN and KLLN in papillary thyroid carcinoma: can they be considered as novel diagnostic biomarkers?

Endocrine
2017

A pair of DICER1-positive monozygotic twins: One with pleuropulmonary blastoma, another with acute transient hepatitis.

Pediatric blood &amp; cancer
2017

Multinodular liver involvement in Abernethy syndrome.

Hepatobiliary surgery and nutrition
2017

A rare presentation: A case report of osseous metaplasia and mature bone formation in a follicular adenoma of the thyroid.

International journal of surgery case reports
2017

PTEN, 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
2017

[The laryngeal condition in the patients presenting with euthyroid multinodular goiter as evaluated by direct laryngoscopy].

Vestnik otorinolaringologii
2016

[A Familial Non Medullary Thyroid Carcinoma (FNMTC) : a clinical and genetic update].

Revue medicale de Liege
2017

Quantification of Thyroid Cancer and Multinodular Goiter Risk in the DICER1 Syndrome: A Family-Based Cohort Study.

The Journal of clinical endocrinology and metabolism
2017

How to recognize Cowden syndrome: A novel PTEN mutation description.

Annales d'endocrinologie
2017

Identification of somatic and germ-line DICER1 mutations in pleuropulmonary blastoma, cystic nephroma and rhabdomyosarcoma tumors within a DICER1 syndrome pedigree.

BMC cancer
2016

Bilateral brachiocephalic vein compression: an unusual and rare presentation of multinodular goitre.

BMJ case reports
2016

Should the Prevalence of Incidental Thyroid Cancer Determine the Extent of Surgery in Multinodular Goiter?

PloS one
2016

Horner's syndrome: an unusual complication of thyroidectomy: a case report.

Journal of medical case reports
2016

Syndrome of Reduced Sensitivity to Thyroid Hormones: Two Case Reports and a Literature Review.

Case reports in endocrinology
2018

[What would you do in front of a patient with a Horner syndrome?].

Semergen
2016

Fluorine-18 fluorocholine PET-CT localizes hyperparathyroidism in patients with inconclusive conventional imaging: a multicenter study from the Netherlands.

Nuclear medicine communications
2017

Association of parathyroid carcinoma and thyroid disorders: A clinical review.

Endocrine
2016

A case of asystole from carotid sinus hypersensitivity during patient positioning for thyroidectomy.

BMC anesthesiology
2016

[Rarer causes of thyrotoxicosis].

Przeglad lekarski
2016

Multi-organ benign and malignant tumors: recognizing Cowden syndrome: a case report and review of the literature.

BMC research notes
2016

Deep Sequencing Reveals Spatially Distributed Distinct Hot Spot Mutations in DICER1-Related Multinodular Goiter.

The Journal of clinical endocrinology and metabolism
2017

Quadruple-Negative GIST Is a Sentinel for Unrecognized Neurofibromatosis Type 1 Syndrome.

Clinical cancer research : an official journal of the American Association for Cancer Research
2016

Conventional Risk Stratification Fails to Predict Progression of Succinate Dehydrogenase-deficient Gastrointestinal Stromal Tumors: A Clinicopathologic Study of 76 Cases.

The American journal of surgical pathology
2016

Neck Kaposiform haemangioendothelioma in a Fischer's lovebird (Agapornis fischeri).

Research in veterinary science
2017

A multicenter experience on the prevalence of ARMC5 mutations in patients with primary bilateral macronodular adrenal hyperplasia: from genetic characterization to clinical phenotype.

Endocrine
2016

Meigs Syndrome Superimposed on Gorlin Syndrome in a 14-Year-Old Girl.

Journal of pediatric and adolescent gynecology
2016

The 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 pathology
2016

Germline 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 Cancer
2016

Multinodular Goiter Spontaneous Hemorrhage in ESRD Patients Result in Acute Respiratory Failure: A Case Report.

Medicine
2016

Aggressive Extraocular Sebaceous Carcinoma of the Scalp Involving the Brain in a Patient With Muir-Torre Syndrome.

The American Journal of dermatopathology
2016

Percutaneous Treatment of Localized Infiltrative Hepatocellular Carcinoma Developing on Cirrhosis.

Annals of surgical oncology
2016

DICER1 syndrome can mimic different genetic tumor predispositions.

Cancer letters
2016

DICER1 Mutations and Differentiated Thyroid Carcinoma: Evidence of a Direct Association.

The Journal of clinical endocrinology and metabolism
2015

Residual manifestations of hypercortisolemia following surgical treatment in a patient with Cushing syndrome.

International journal of pediatric endocrinology
2015

Cardiothyreosis: Pathogenic Conjectures, Clinical Aspects and Surgical Approach.

Chirurgia (Bucharest, Romania : 1990)
2015

Thyroid Pathology Findings in Cowden Syndrome: A Clue for the Diagnosis of the PTEN Hamartoma Tumor Syndrome.

American journal of clinical pathology
2015

Cowden Syndrome with a Novel Germline PTEN Mutation and an Unusual Clinical Course.

Annals of dermatology
2015

Ovarian embryonal rhabdomyosarcoma is a rare manifestation of the DICER1 syndrome.

Human pathology
2015

Gammaherpesvirus infections in equids: a review.

Veterinary medicine (Auckland, N.Z.)
2015

A lethal complication after transarterial chemoembolization with drug-eluting beads for hepatocellular carcinoma.

Case reports in surgery
2014

A rare soft tissue tumor masquerading as a parathyroid adenoma in a patient with birt-hogg-dubé syndrome and multiple cervical endocrinopathies.

Case reports in pathology

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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. Daneman Syndrome Revisited.
    The Journal of pediatrics· 2026· PMID 41864498mais citado
  2. DICER1 Syndrome With Embryonal Rhabdomyosarcoma of the Uterine Cervix and Retroperitoneal Metastasis: A Case Report and Literature Review.
    Case reports in obstetrics and gynecology· 2026· PMID 41822797mais citado
  3. Liver Lipodystrophy in Barraquer-Simons Syndrome: How Much Should We Worry About?
    Life (Basel, Switzerland)· 2026· PMID 41598310mais citado
  4. Unmasking familial follicular cell-derived thyroid neoplasms associated with syndromes: DICER1 and PTEN-hamartoma tumor syndromes.
    Virchows Archiv : an international journal of pathology· 2026· PMID 41483301mais citado
  5. Clinicopathologic and molecular characterization of a series of sporadic trichoblastic neoplasms.
    Virchows Archiv : an international journal of pathology· 2026· PMID 41203975mais citado
  6. The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases.
    Hum Mutat· 2022· PMID 35178824recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:2091(Orphanet)
  2. OMIM OMIM:138790(OMIM)
  3. MONDO:0007680(MONDO)
  4. GARD:1671(GARD (NIH))
  5. Busca completa no PubMed(PubMed)
  6. 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

Compêndio · Raras BR

Síndrome de bócio multinodular-rim cístico-polidactilia

ORPHA:2091 · MONDO:0007680
Prevalência
<1 / 1 000 000
Casos
3 casos conhecidos
Herança
Autosomal dominant
CID-10
Q87.8 · Outras síndromes com malformações congênitas especificadas, não classificadas em outra parte
Início
Antenatal, Neonatal
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C1841853
Repurposing
1 candidato
propylthiouracilthyroid peroxidase inhibitor
Wikidata
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