O Complexo de Carney (CNC) é caracterizado por manchas na pele, excesso de atividade hormonal e tumores benignos.
Introdução
O que você precisa saber de cara
O Complexo de Carney (CNC) é caracterizado por manchas na pele, excesso de atividade hormonal e tumores benignos.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 37 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 77 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
3 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant.
Regulatory subunit of the cAMP-dependent protein kinases involved in cAMP signaling in cells
Cell membrane
Carney complex 1
CNC is a multiple neoplasia syndrome characterized by spotty skin pigmentation, cardiac and other myxomas, endocrine tumors, and psammomatous melanotic schwannomas.
Muscle contraction
Cytoplasm, myofibril
Carney complex variant
Carney complex is a multiple neoplasia syndrome characterized by spotty skin pigmentation, cardiac and other myxomas, endocrine tumors, and psammomatous melanotic schwannomas. Familial cardiac myxomas are associated with spotty pigmentation of the skin and other phenotypes, including primary pigmented nodular adrenocortical dysplasia, extracardiac (frequently cutaneous) myxomas, schwannomas, and pituitary, thyroid, testicular, bone, ovarian, and breast tumors. Cardiac myxomas do not develop in all patients with the Carney complex, but affected patients have at least two features of the complex or one feature and a clinically significant family history.
Plays a role in signal transduction by regulating the intracellular concentration of cyclic nucleotides cAMP and cGMP (PubMed:10725373, PubMed:10906126, PubMed:11050148, PubMed:16330539). Catalyzes the hydrolysis of both cAMP and cGMP to 5'-AMP and 5'-GMP, respectively (PubMed:10725373, PubMed:10906126, PubMed:11050148)
Cytoplasm, cytosol
Primary pigmented nodular adrenocortical disease 2
A rare bilateral adrenal defect causing ACTH-independent Cushing syndrome. Macroscopic appearance of the adrenals is characteristic with small pigmented micronodules observed in the cortex. Adrenal glands show overall normal size and weight, and multiple small yellow-to-dark brown nodules surrounded by a cortex with a uniform appearance. Microscopically, there are moderate diffuse cortical hyperplasia with mostly nonpigmented nodules, multiple capsular deficits and massive circumscribed and infiltrating extra-adrenal cortical excrescences with micronodules. Clinical manifestations of Cushing syndrome include facial and truncal obesity, abdominal striae, muscular weakness, osteoporosis, arterial hypertension, diabetes.
Variantes genéticas (ClinVar)
350 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 1,017 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
17 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Complexo de Carney
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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
Ensaios em destaque
🟢 Recrutando agora
2 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.
Outros ensaios clínicos
8 ensaios clínicos encontrados, 2 ativos.
Publicações mais relevantes
cAMP/PKA signaling in endocrine hypertension: genetic mechanisms and pathophysiological insights.
The cyclic adenosine monophosphate (cAMP)-protein kinase A (PKA) signaling pathway plays a central role in adrenal function, steroidogenesis, and blood pressure regulation. Increasing evidence suggests that dysregulation of this pathway contributes to several forms of hypertension, both endocrine and non-endocrine. A growing number of germline and somatic alterations affecting components of the cAMP/PKA axis have been implicated as key drivers of hypertensive disorders. Among these, activating pathogenic variants (PV) in GNAS, which encodes the stimulatory G protein α-subunit (Gsα) responsible for cAMP production, have been linked to cortisol excess. Mosaic GNAS PV cause McCune-Albright syndrome, which may present with ACTH-independent Cushing syndrome, while somatic GNAS PV have been identified in cortisol-producing adrenal adenomas. Germline inactivating variants in PRKAR1A are associated with Carney complex and primary pigmented nodular adrenocortical disease (PPNAD). Furthermore, germline alterations in phosphodiesterases such as PDE11A and PDE8B, which impair cAMP degradation, have been associated with Cushing syndrome and micronodular adrenal hyperplasia. Somatic activating PV in PRKACA, the gene encoding the catalytic subunit of PKA, have also been described in cortisol-producing adenomas. In primary aldosteronism, recent studies-including data from our group-suggest that germline variants in PDE2A and PDE3B may contribute to bilateral adrenal hyperplasia and autonomous aldosterone production by modulating intracellular cAMP levels. Additionally, gain-of-function PV in PDE3A have been associated with a familial form of salt-independent hypertension characterized by enhanced PKA signaling and vascular remodeling. This expanding body of evidence underscores the critical role of the cAMP/PKA pathway in the pathophysiology of distinct hypertensive phenotypes and highlights novel molecular mechanisms and potential therapeutic targets that merit further investigation.
A urologic manifestation of carney complex: Bilateral Sertoli tumors and scrotal myxoma in an adolescent male.
Carney complex (CNC) is a rare tumor syndrome caused by mutations in the PRKAR1A gene, characterized by endocrine tumors, cardiac and cutaneous myxomas, pigmented lesions, and testicular tumors. One to two thirds of affected males develop large cell calcifying Sertoli cell tumors (LCCSCTs), with rare involvement of scrotal soft tissues. We present a case of CNC in an adolescent male with bilateral LCCSCTs and a very large scrotal myxoma, resulting in azoospermia and pain requiring surgical management. This report highlights the urologic manifestations of CNC and outlines appropriate evaluation, treatment, and surveillance strategies relevant to pediatric and adolescent urologic practice.
Case Reports: Exploring the Varied Presentations and Clinical Features of Carney Complex, A Detailed Report on Three Distinct Cases.
Carney Complex (CNC) is a rare genetic disorder characterized by multiple endocrine and nonendocrine neoplasms, primarily driven by mutations in the PRKAR1A gene. This study explores the clinical heterogeneity in CNC patients, with a focus on adrenal and extra adrenal involvement and its impact on patient outcomes. We present three pediatric cases with unique clinical manifestations. Case 1: A 12-year-old female with ACTH-independent cyclic Cushing syndrome due to primary pigmented nodular adrenocortical disease (PPNAD). The patient's condition progressed, leading to complications such as obesity, depression, and short stature, ultimately requiring bilateral adrenalectomy. Case 2: A 9-year-old male presented with an intranasal osteochondromyxoma and a large cell calcifying sertoli cell tumor. In the followup he developed hypocortisolism secondary to ACTH deficiency, with further complications including central precocious puberty and a growth hormone-secreting pituitary adenoma. Case 3: A 12-year-old female with adrenal insufficiency due to ACTH deficiency, complicated by a pituitary adenoma and a recurrent cardiac myxoma. Over time, the patient developed ACTH-independent Cushing syndrome secondary to PPNAD, necessitating bilateral adrenalectomy. Multiple fusiform aneurysms were also discovered after the recurrence of atrial myxoma. All cases highlight the absence of a consistent genotype-phenotype correlation in CNC, emphasizing the need for individualized management strategies. The findings underscore the complexity of diagnosing and treating CNC, particularly in pediatric populations, and call for further research into the underlying molecular mechanisms to develop more targeted therapies.
ST-Segment Elevation Myocardial Infarction From Carney Complex Familial Myxoma Embolization.
Carney complex (CNC) is a rare condition associated with multiorgan system tumors. Cardiac myxomas are a frequent complication of this disease. A 20-year old man with CNC presented with 3 days of dyspnea. Echocardiography revealed a rapidly growing left atrial myxoma. He developed chest pain (score: 10/10) during his hospitalization and was found to have an acute inferior ST-segment elevation myocardial infarction (STEMI). Emergent percutaneous balloon angioplasty and aspiration thrombectomy were performed, with eventual surgical myxoma excision. STEMI due to myxoma embolization is rare and poorly understood. This case highlights the pathophysiology and complications associated with CNC, the acute therapeutic interventions for STEMI from myxoma embolization, and the long-term management of atrial myxomas. In young patients with CNC, STEMI is often embolic from cardiac myxomas; acute treatment typically involves percutaneous coronary intervention with thrombectomy rather than stent placement. Definitive treatment involves surgical excision of the myxoma using a multidisciplinary approach, although recurrence rates are high in CNC.
Dermatologic Features of Endocrine Tumor Syndromes-Systematic Review and Meta-Analysis.
Endocrine tumor syndromes, including multiple endocrine neoplasia types 1, 2A, and 2B (MEN1, MEN2A, MEN2B), Carney complex (CNC), and PTEN hamartoma tumor syndrome (PHTS), are hereditary conditions characterized by multisystem tumor development. Alongside endocrine neoplasms, these syndromes present with diverse cutaneous manifestations, offering valuable diagnostic clues for early recognition and management. This systematic review and meta-analysis aimed to evaluate and synthesize the dermatologic features associated with these syndromes. Following PRISMA 2020 guidelines, a systematic search of MEDLINE, Cochrane Library, and Embase databases was conducted. Eligible publications included original articles, case reports, and case series with detailed dermatological descriptions of patients with the aforementioned syndromes. Data extraction and risk of bias assessment were performed independently by multiple reviewers. Statistical analyses and data visualization were conducted using program package R. A total of 217 studies comprising 833 patients were included: 276 MEN1, 48 MEN2A, 9 MEN2B, 121 CNC, and 452 PHTS cases. Distinct dermatologic patterns emerged within each syndrome: angiofibromas, collagenomas, and lipomas in MEN1; cutaneous lichen amyloidosis in MEN2A; mucosal neuromas in MEN2B; lentiginosis and cutaneous myxomas in CNC; and trichilemmomas, papillomatous papules, and acral keratoses in PHTS. Melanoma prevalence was 2.2% in PHTS and 2.5% in MEN1 patients, underscoring the need for dermatologic vigilance. This review highlights the role of dermatologic assessment in identifying endocrine tumor syndromes, with cutaneous findings often serving as early, accessible markers of systemic disease. Enhanced awareness of these manifestations can facilitate timely genetic evaluation, cancer surveillance, and multidisciplinary intervention. Trial Registration: PROSPERO registration number: CRD42024558093.
Publicações recentes
Case Report: Hyperthyroidism in a patient with spotty skin pigmentation and atrial myxoma (Carney complex): coincidence, association or cause?
Fibrous dysplasia in a patient with Carney complex.
Skin lesions in patients treated with growth hormone and those with growth hormone excess: a current overview.
cAMP/PKA signaling in endocrine hypertension: genetic mechanisms and pathophysiological insights.
📚 EuropePMC418 artigos no totalmostrando 200
cAMP/PKA signaling in endocrine hypertension: genetic mechanisms and pathophysiological insights.
Frontiers in endocrinologyA urologic manifestation of carney complex: Bilateral Sertoli tumors and scrotal myxoma in an adolescent male.
Urology case reportsCase Reports: Exploring the Varied Presentations and Clinical Features of Carney Complex, A Detailed Report on Three Distinct Cases.
Journal of clinical research in pediatric endocrinologyOrbitoconjunctival Myxoma: A Case Report and a Brief Literature Review.
International medical case reports journalFamilial hereditary cardiac myxoma: report of three cases and literature review.
BMC cardiovascular disordersPRKACA constitutional duplication: a specific cause of primary pigmented nodular adrenocortical disease.
European journal of endocrinologyFrom misclassified AIP variant to carney complex: a case report and retrospective evaluation of PRKAR1A in pituitary tumor predisposition.
PituitaryST-Segment Elevation Myocardial Infarction From Carney Complex Familial Myxoma Embolization.
JACC. Case reportsSinonasal Tract Osteochondromyxoma: Future Directions Beyond Morphologic Description.
Head and neck pathologyLarge Right Atrial Myxoma With Endocrine Abnormalities as a Possible Case of a Syndromic Disease: A Case Report.
Clinical case reportsPerioperative Care of a Patient With Carney Complex.
Cardiology researchDermatologic Features of Endocrine Tumor Syndromes-Systematic Review and Meta-Analysis.
International journal of dermatologyRight Atrial Myxoma in a Young Patient with a DSG-2 Genetic Mutation: A Case Report.
Case reports in oncologyCarney Complex During Six-Year Follow-Up and Its Association With Attention-Deficit Hyperactivity Disorder: A Case Report.
CureusSinonasal Tract Osteochondromyxoma: An Underrecognized Tumor Easily Mistaken for Nasal Chondromesenchymal Hamartoma.
Head and neck pathologyA RARE CAUSE OF CUSHING'S SYNDROME: BILATERAL PRIMARY PIGMENTED MICRONODULAR ADRENAL DISEASE.
Acta endocrinologica (Bucharest, Romania : 2005)Case Report: The carney complex led to the tragic passing of a young girl in the prime of her life.
Frontiers in cardiovascular medicineFamilial Carney complex with embolic ischemic stroke: a case report and literature review.
Frontiers in oncologyKeeping Up With Carney Complex: A Case of Recurrent Cardiac Myxomas.
JACC. Case reportsCushing's syndrome due to Carney complex in two siblings.
BMJ case reportsCyclic Cushing syndrome and endocrine disorders in two children with Carney complex.
Archivos argentinos de pediatriaA Case of Carney Complex with Pontine Glioma.
Journal of clinical research in pediatric endocrinologyA Case of Myxoid Malignant Peripheral Nerve Sheath Tumor in a Patient With Carney Complex.
Case reports in pathologyRecurrent Atrial Myxoma in a Patient With Carney Complex 26 Years After Heart Transplantation.
JACC. Case reportsIsolated Myxoma of the External Auditory Canal: A Rare Case Report.
Journal of audiology & otologyThe Role of the Surgical Pathologist in the Recognition of Hereditary Mesenchymal Neoplasms.
Advances in anatomic pathologyUncharted Territory: The First Case of Cardiac Myxoma in a Patient With NF2.
JACC. Case reportsCardiac Complications in Carney Complex: Right Ventricular Outflow Tract Obstruction and Pulmonary Hypertension.
CASE (Philadelphia, Pa.)Unilateral Adrenalectomy for Pediatric Cyclical Cushing Syndrome with Novel PRKAR1A Variant Associated Carney Complex.
JCEM case reportsRecurrent Cardiac Myxoma: Insights From a Fourth Recurrence.
JACC. Case reportsCase Report: Cardiac myxomas and Carney complex: a case of recurrent embolic strokes and intracranial tumor growth.
Frontiers in oncologySuperficial angiomyxoma affecting the buccal mucosa: A detailed immunohistochemical study and literature review.
Oral oncologyUpdated Recommendations for Pediatric Surveillance in Hereditary Endocrine Neoplasia Syndromes: Multiple Endocrine Neoplasias, Hyperparathyroidism-Jaw Tumor Syndrome, and Carney Complex.
Clinical cancer research : an official journal of the American Association for Cancer ResearchSporadic Coexistence of Parathyroid Adenoma, Papillary Thyroid Carcinoma, Pheochromocytoma, and Cardiac Myxoma: A Multidisciplinary Approach to an Extremely Rare Tumor Constellation.
CureusRight Ventricle Myxoma Masquerading as a Thrombus in a Pediatric Patient.
JACC. Case reportsChild With Painful Purpuric Rash of the Hands and Feet.
Pediatric dermatologyCarney complex: A rare diagnosis at hand.
Journal of pediatric nursingSubtle Symptoms of Large Biatrial Myxomas: A Case Study and Surgical Insights.
The American journal of case reportsOncocytic Tumors in the Familial and Syndromic Contexts: A Tri-Focal Review - Integrated Cytopathological, Pathological, and Molecular Perspectives.
Acta cytologicaNonmalignant Adrenocorticotrophic Hormone-Independent Cushing's Syndrome in Pediatric Patients: A Retrospective Observational Cohort Study.
Hormone research in paediatricsCardiac myxoma: a comprehensive review.
Journal of cardiothoracic surgeryA Rare Case of PRKACA Duplication-Associated Childhood-Onset Primary Pigmented Nodular Adrenocortical Disease.
JCEM case reportsHybrid nerve sheath tumor of the spinal canal and neurofibromatosis-2, where the twain shall meet-a case report and review of literature.
Journal of medical case reportsDetection of PRKAR1A gene mutations in sporadic cardiac myxomas: a study of 24 cases.
Virchows Archiv : an international journal of pathologyA Case of Recurrent Eyelid Cutaneous Myxoma With Basaloid Proliferation in a Child.
The American Journal of dermatopathologySynchronous bilateral adrenalectomy for ACTH-independent Cushing's syndrome in children: multidisciplinary management.
European journal of endocrinology[Superficial angiomyxoma in the scrotum].
MedicinaRight Atrial Myxoma Removal Followed by COVID-19 Infection and Possibly Related Late Pericardial Effusion in a 31-Year-Old Male.
CureusThe "Pigmented Side" of Nerve Sheaths: Malignant Melanotic Nerve Sheath Tumor.
International journal of surgical pathologyCarney complex was diagnosed following the recurrence of cardiac myxoma: A case report.
Asian journal of surgeryTotal resection via right mini-thoracotomy for left atrial myxoma in juvenile Carney complex: a case report.
General thoracic and cardiovascular surgery casesMale Infertility associated with a Novel PRKAR1A Mutation in Carney Complex.
Clinical medicine insights. Endocrinology and diabetesThe molecular genetics of adrenal cushing.
Hormones (Athens, Greece)Challenging Diagnostic Workup of a 22-year-old Patient With Primary Pigmented Nodular Adrenocortical Disease.
JCEM case reportsCushing syndrome in paediatric population: who and how to screen.
Journal of endocrinological investigationRecurrent left ventricular myxoma with Carney complex.
Acta cardiologicaSolitary Superficial Angiomyxoma in an Uncommon Location: A Case Report and Literature Review.
CureusGermline mutations in a G protein identify signaling cross-talk in T cells.
Science (New York, N.Y.)From cortisol-producing adrenal adenoma to atrial myxoma, through nivolumab-induced hypophysitis: a complicated case report of Carney Complex.
EndocrineSurgical recurrence of cardiac myxomas in patients with the Carney complex condition: A literature review.
Asian journal of surgeryMyxoma: An Unusual Aggressive Orbital Lesion.
Ophthalmic plastic and reconstructive surgeryCardiac Myxomas in Carney Complex: Single Institution Multidecade Experience.
The Annals of thoracic surgeryNasal Osteochondromyxoma Without Carney Complex: A Case Report and a Literature Review.
Cureus[Superficial angiomyxoma on the sole of the foot].
Dermatologie (Heidelberg, Germany)Adrenal Cushing Syndrome: Diagnosis and Management in a 10-Year-Old Boy with Carney Complex.
Hormone research in paediatrics[Molecular genetic abnormalities in ACTH-secreting pituitary tumors (corticotropinomas): fundamental research and prospects for use in clinical practice].
Problemy endokrinologiiRight atrial cardiac myxoma with malignant transformation to undifferentiated sarcoma: A case report.
Cardiovascular pathology : the official journal of the Society for Cardiovascular PathologyNovel PRKAR1A mutation in Carney complex: a case report and literature review.
Frontiers in endocrinologySquamous Metaplasia in a Schwannoma: A Unique Histologic Finding.
CureusThe clinical characteristics and pathogenic variants of primary pigmented nodular adrenocortical disease in 210 patients: a systematic review.
Frontiers in endocrinologyRight ventricular myxoma and pulmonary embolism in an adolescent with Carney complex.
JTCVS techniquesBilateral Adrenocortical Nodular Disease and Cushing's Syndrome.
The Journal of clinical endocrinology and metabolismDiagnosis and cardiac transplantation of a Carney syndrome-induced cardiac myxoma combined with dilated cardiomyopathy: a case report.
BMC cardiovascular disordersCarney complex: a case report of bilateral breast myxoid fibroadenomas.
Case reports in plastic surgery & hand surgeryRecurrent, polycystic myxoma in a Carney complex patient undergoing medical control of acromegaly.
The international journal of cardiovascular imagingThe Spectrum of GH Excess in Carney Complex and Genotype-phenotype Correlations.
The Journal of clinical endocrinology and metabolismFamilial syndromes associated with testicular and paratesticular neoplasms: a comprehensive review.
Virchows Archiv : an international journal of pathologyPulmonary embolism from right ventricular myxoma in a child with undiagnosed Carney complex.
Cardiology in the youngFrequent protein kinase A regulatory subunit A1 mutations but no GNAS mutations as potential driver in sporadic cardiac myxomas.
Cardiovascular pathology : the official journal of the Society for Cardiovascular PathologySudden Death in a Child With Ocular Lesions.
JAMA ophthalmologyLipodystrophy in methylmalonic acidemia associated with elevated FGF21 and abnormal methylmalonylation.
JCI insightCarney Complex with Left Atrial Myxoma - A Vasculitis Mimicker.
Acta Cardiologica SinicaCarney complex predisposes to breast cancer: prospective study of 50 women.
European journal of endocrinologySuperficial Angiomyxoma in an Uncommon Area: A Case Report.
CureusMolecular characterization of large cell calcifying sertoli cell tumors: A multi-institutional study of 6 benign and 2 malignant tumors.
Human pathologyRecurrent Biatrial Myxomas in Carney Complex with a Spinal Melanotic Schwannoma: Advocacy for a Rigorous Multidisciplinary Follow-Up.
Case reports in cardiologyThe benign nature and rare occurrence of cardiac myxoma as a possible consequence of the limited cardiac proliferative/ regenerative potential: a systematic review.
BMC cancerBilateral large cell calcifying Sertoli cell tumours: A testicular preservation approach in a young male.
Urology case reportsAtypical Presentation and Course of ACTH-Independent Cushing’s Syndrome in Two Families.
Journal of clinical research in pediatric endocrinologyCarney Complex and Its Association With Thyroid Cancer, Molecular Pathway, and Treatment.
CureusSuperficial Angiomyxoma of Axilla: A Case Report.
CureusCarney complex: A clinicopathologic study on a single family from several Canadian provinces.
Cardiovascular pathology : the official journal of the Society for Cardiovascular PathologyOsteochodromyxoma presenting as case of congenital nasolacrimal duct obstruction.
American journal of ophthalmology case reportsGenetic Testing in Hereditary Pituitary Tumors.
Archives of medical researchGermline PRKACA amplification-associated primary pigmented nodular adrenocortical disease: a case report and literature review.
Archives of endocrinology and metabolismPigmented epithelioid melanocytoma arising from a teratoma of a Carney complex patient.
The journal of obstetrics and gynaecology researchNewly Recognized Genetic Tumor Syndromes of the CNS in the 5th WHO Classification: Imaging Overview with Genetic Updates.
AJNR. American journal of neuroradiologySurgical management of malignant melanotic nerve sheath tumors: an institutional experience and systematic review of the literature.
Journal of neurosurgery. Spine[Schwannoma, Neurofibromatosis Type 2, and Schwannomatosis in the 2021 WHO Classification of Tumors of the Central Nervous System].
No shinkei geka. Neurological surgeryCardiac myxomas: causes, presentations, diagnosis, and management.
Irish journal of medical scienceWhole genome sequencing resolves 10 years diagnostic odyssey in familiar myxoma.
Scientific reportsA rare case of cutaneous myxoma with trichofolliculoma-like features.
Journal of cutaneous pathologyBrain and/or Spinal Cord Tumors Accompanied with Other Diseases or Syndromes.
Advances in experimental medicine and biology[Rare forms of hereditary endocrine neoplasia: co-existence of pituitary adenoma and pheochromocytoma/paraganglioma].
Problemy endokrinologiiMultiple cardiac myxomas and cutaneous pigmentation revealing carney complex.
Journal of clinical ultrasound : JCUMalignant melanotic nerve sheath tumor with PRKAR1A, KMT2C, and GNAQ mutations.
Free neuropathologyCase Report: Atrial myxoma combined with hyperthyroidism in an adolescent with literature review.
Frontiers in oncologyFourth Recurrence of Cardiac Myxoma in a Patient with Carney Complex.
Anatolian journal of cardiologyCardiac myxoma in a teenager with Carney complex.
Pediatric blood & cancerPituitary Tumorigenesis-Implications for Management.
Medicina (Kaunas, Lithuania)Case of Bilateral Atrial Myxomas in Carney Syndrome.
Journal of the Saudi Heart AssociationLaparoscopic right adrenalectomy in a patient with Carney syndrome: A case report.
International journal of surgery case reportsLarge cell calcifying Sertoli cell tumour: molecular and immunohistochemical assessment of a series comprising non-metastasising and metastasising neoplasms.
HistopathologySuperficial angiomyxoma of the breast in a 25-year-old woman without Carney complex.
Asian journal of surgeryAtrial myxoma and associated Cushing syndrome: Carney complex.
MedicinaA case report and literature review of Carney complex with atrial adenomyxoma.
BMC endocrine disordersAn adolescent case of sellar osteochondromyxoma in the setting of spondyloepiphyseal dysplasia.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryAngiomyxoma of the Breast: A Clinicopathologic Analysis of 40 Cases.
The American journal of surgical pathologyRecurrent multi-cameral cardiac myxomas in a child with Carney complex.
Cardiology in the youngA 14-Year-Old Saudi Boy with Gynecomastia, Cushing Syndrome, Large-Cell Calcifying Sertoli Cell Tumor of the Testis, and Carney Complex.
The American journal of case reportsCarney complex presenting as subclinical Cushing syndrome in a child due to a novel Phosphodiesterase 11A mutation.
HeliyonSurgical Outcomes of Cardiac Myxoma Resection Through Right Mini-Thoracotomy.
Journal of chest surgeryKey changes in WHO classification 2022 of testicular tumors.
Ceskoslovenska patologieUnusual Findings in a Patient With Carney Complex due to a Novel PRKAR1A Mutation.
Anticancer researchThe Spectrum of Familial Pituitary Neuroendocrine Tumors.
Endocrine pathologyBilateral tympanic myxoma: A CARE case report.
European annals of otorhinolaryngology, head and neck diseasesThe cAMP-signaling cancers: Clinically-divergent disorders with a common central pathway.
Frontiers in endocrinologyAbnormal Fibroblasts Drive Pigmentary Skin Lesions in a Mouse Model of Carney Complex.
The Journal of investigative dermatologyCarney complex- why thorough medical history taking is so important - report of three cases and review of the literature.
EndocrineNew Onset Cardiac Murmur and Exertional Dyspnea in an Apparently Healthy Child: A Rare Localization of Obstructive Myxoma in the Right Ventricle Outflow Tract without Pulmonary Embolization-A Case Report and Literature Review.
International journal of environmental research and public healthAssociation between subclinical hyperthyroidism and a PRKAR1A gene variant in Carney complex patients: A case report and systematic review.
Frontiers in endocrinologyA Novel Missense PRKAR1A Variant Causes Carney Complex.
Endocrinology and metabolism (Seoul, Korea)Efficacy of aromatase inhibitor therapy in a case with large cell calcifying Sertoli cell tumour-associated prepubertal gynaecomastia.
Journal of pediatric endocrinology & metabolism : JPEMTrigeminal Nerve Melanotic Schwannoma in Carney Complex.
The Indian journal of radiology & imagingCardiac myxoma presenting with multisystem involvement.
Saudi medical journalGenetic and clinical phenotypic analysis of carney complex with external auditory canal myxoma.
Frontiers in geneticsUnilateral or bilateral adrenalectomy in PPNAD: six cases from a single family followed up over 40 years.
EndocrineConjunctival myxoma masquerading as conjunctival lymphoma: A case report.
International journal of surgery case reportsCarney complex with multiple breast tumours including breast cancer: a case report.
Oxford medical case reportsPhenotypic Variability in a Family with Carney Complex Accompanied by a Novel Mutation Involving PRKAR1A.
The Tohoku journal of experimental medicineSpotty skin pigmentation in Carney complex.
Cleveland Clinic journal of medicineGenetic Alterations in Benign Adrenal Tumors.
BiomedicinesGastrointestinal: Melanotic schwannoma of the pancreas associated with Carney complex: A cause of acute neoplastic symptom.
Journal of gastroenterology and hepatologyCardiac myxomas: A narrative review.
World journal of cardiologySteroidogenic Factor-1 Lineage Origin of Skin Lesions in Carney Complex Syndrome.
The Journal of investigative dermatologyMolecular genetic testing in the management of pituitary disease.
Clinical endocrinologyA review of multiomics platforms in pituitary adenoma pathogenesis.
Frontiers in bioscience (Landmark edition)Conjunctival myxoid stromal tumor of the palpebral conjunctiva: A case report.
American journal of ophthalmology case reportsA Case Presentation Based on Incidental Diagnosis of Atrial Myxoma in a Patient Presenting With Atrial Fibrillation and Suspected Carney Complex.
CureusThorahcic SMARCA4-deficient undifferentiated tumors with ganglioneuroma and enchondroma: implications for SLC7A11 and ARID1A expression: a case report.
Diagnostic pathologyA novel 8.57-kb deletion of the upstream region of PRKAR1A in a family with Carney complex.
Molecular genetics & genomic medicineCase Report: Two Myxomas of Different Echodensities on Transthoracic Echocardiography in One Patient.
Frontiers in cardiovascular medicineCarney Complex Complicated with Primary Pigmented Nodular Adrenocortical Disease without Cushing's Syndrome Recurrence for Five Years after Unilateral Adrenalectomy.
Internal medicine (Tokyo, Japan)Novel CD63-PRKCB fusion in a case of pigmented epithelioid melanocytoma.
Pediatric dermatologyA clinicopathologic analysis of 54 cases of cutaneous myxoma.
Human pathologyLarge Cell Calcifying Sertoli Cell Tumor: A Clinicopathologic Study of 18 Cases With Comprehensive Review of the Literature and Reappraisal of Prognostic Features.
The American journal of surgical pathologySuperficial Angiomyxomas Frequently Demonstrate Loss of Protein Kinase A Regulatory Subunit 1 Alpha Expression: Immunohistochemical Analysis of 29 Cases and Cutaneous Myxoid Neoplasms With Histopathologic Overlap.
The American journal of surgical pathologyBloody nipple discharge in Carney complex: A case report.
The breast journalProtein kinase A drives paracrine crisis and WNT4-dependent testis tumor in Carney complex.
The Journal of clinical investigationLarge cell calcifying Sertoli cell tumour: a contemporary multi-institutional case series highlighting the diagnostic utility of PRKAR1A immunohistochemistry.
HistopathologyDermatologic manifestations of pediatric cardiovascular diseases: Skin as a reflection of the heart.
Pediatric dermatologyCase Report: An Atypical Case of Carney Complex.
The American journal of case reportsBilateral Adrenal Hyperplasia: Pathogenesis and Treatment.
Biomedicines[Carney complex characterized by jugular foramen myxoma: a case report].
Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgeryGαs-Protein Kinase A (PKA) Pathway Signalopathies: The Emerging Genetic Landscape and Therapeutic Potential of Human Diseases Driven by Aberrant Gαs-PKA Signaling.
Pharmacological reviewsPeutz-Jeghers syndrome: Skin manifestations and endocrine anomalies (Review).
Experimental and therapeutic medicineDiagnosis of Carney complex following multiple recurrent cardiac myxomas.
General thoracic and cardiovascular surgeryDermatological and endocrine elements in Carney complex (Review).
Experimental and therapeutic medicineA novel PRKAR1A gene mutation in Carney complex.
Clinical and experimental dermatologySporadic superficial angiomyxomas demonstrate loss of PRKAR1A expression.
HistopathologyUltrasonographic features of cutaneous myxomas in a patient with Carney complex.
Anais brasileiros de dermatologiaConjunctival myxoma: A systematic review of a rare tumor.
Survey of ophthalmologyMultimodality Cardiac Imaging Enhances Diagnosis and Management of Recurrent Atrial Myxomas in Carney Complex.
CASE (Philadelphia, Pa.)PRKAR1A and Thyroid Tumors.
CancersL3 rootlet recurrent melanocytic schwannoma - case report and literature review.
Folia medicaCarney complex: left atrial myxoma in a patient with past pituitary microadenoma and lentiginosis.
BMJ case reportsIncidentally discovered myelolipomatous adrenal adenomas, including six cases presenting with hypercortisolism.
Pathology, research and practiceImaging features of Carney complex with external auditory canal myxoma.
Japanese journal of clinical oncologyLoss of PKA regulatory subunit 1α aggravates cardiomyocyte necrosis and myocardial ischemia/reperfusion injury.
The Journal of biological chemistryA most versatile kinase: The catalytic subunit of PKA in T-cell biology.
International review of cell and molecular biologyCheckpoint inhibitors and radiotherapy in refractory malignant melanocytic schwannoma with Carney complex: first evidence of efficacy.
BMJ case reportsVulvar Cutaneous Myxoma in a Patient With Carney Complex: Avoiding Pitfalls of Myxoid Lesions of the Vulva.
International journal of surgical pathologyNoncanonical protein kinase A activation by oligomerization of regulatory subunits as revealed by inherited Carney complex mutations.
Proceedings of the National Academy of Sciences of the United States of AmericaHemorrhagic spinal melanotic schwannoma presenting as acute chest pain: A case report and literature review.
Surgical neurology internationalA novel mutation in PRKAR1A gene in a patient with Carney complex presenting with pituitary macroadenoma, acromegaly, Cushing's syndrome and recurrent atrial myxoma.
Archives of endocrinology and metabolismCarney complex: a curious case of a rare cancer syndrome caused by a novel pathogenic mutation in the PRKAR1A gene.
BMJ case reportsGenetics of Acromegaly and Gigantism.
Journal of clinical medicineMolecular Genetic and Genomic Alterations in Cushing's Syndrome and Primary Aldosteronism.
Frontiers in endocrinologyMultiple cardiac myxomas and acromegaly revealing carney complex.
European heart journal. Cardiovascular ImagingSchwannoma with Psammoma Body.
Journal of the American Podiatric Medical AssociationPsammomatous melanotic schwannoma - a rare neck lump.
Annals of the Royal College of Surgeons of England[Cancer-associated genodermatoses].
Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte GebieteFirst Somatic PRKAR1A Defect Associated With Mosaicism for Another PRKAR1A Mutation in a Patient With Cushing Syndrome.
Journal of the Endocrine SocietyGenetic and Epigenetic Causes of Pituitary Adenomas.
Frontiers in endocrinologyThe clinical aspects of pituitary tumour genetics.
EndocrineInherited Follicular Epithelial-Derived Thyroid Carcinomas: From Molecular Biology to Histological Correlates.
Endocrine pathologyRecurrent cardiac and skin myxomas along with acromegaly: A case report of carney complex.
ARYA atherosclerosisMANAGEMENT OF ENDOCRINE DISEASE: Carney complex: clinical and genetic update 20 years after the identification of the CNC1 (PRKAR1A) gene.
European journal of endocrinologyCarney triad: A case report, characteristics and literature review of this rare entity.
International journal of surgery case reportsNewborn infant with congenital lentigines as a manifestation of Carney Complex.
BMJ case reportsAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
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Comunidades
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Ainda não existe comunidade no Raras para Complexo de Carney
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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.
- cAMP/PKA signaling in endocrine hypertension: genetic mechanisms and pathophysiological insights.
- A urologic manifestation of carney complex: Bilateral Sertoli tumors and scrotal myxoma in an adolescent male.
- Case Reports: Exploring the Varied Presentations and Clinical Features of Carney Complex, A Detailed Report on Three Distinct Cases.
- ST-Segment Elevation Myocardial Infarction From Carney Complex Familial Myxoma Embolization.
- Dermatologic Features of Endocrine Tumor Syndromes-Systematic Review and Meta-Analysis.
- Case Report: Hyperthyroidism in a patient with spotty skin pigmentation and atrial myxoma (Carney complex): coincidence, association or cause?
- Fibrous dysplasia in a patient with Carney complex.
- Acromegaly and genetics.
- Skin lesions in patients treated with growth hormone and those with growth hormone excess: a current overview.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:1359(Orphanet)
- MONDO:0015285(MONDO)
- GARD:1119(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q1044007(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
