Atrial myxoma and associated Cushing syndrome: Carney complex / Mixoma auricular y síndrome de Cushing asociado: complejo de Carney

Abstract A 33-year-old woman with a history of high blood pressure since she was 8 years old, hypothyroidism, polycystic ovary syndrome, metabolic syndrome, multiple nevi, and a maternal family history of death at age 50 due to malignant high blood pressure and heart failure. Cushing's syndrome secondary to a secretory pituitary microadenoma was diagnosed, being the cause of secondary arterial hypertension, and ruling out other causes such as renal stenosis and coarctation of the aorta. A transthoracic and transesophageal echocardiogram was performed, which detected a left atrial myxoma. Given the presence of an atrial myxoma, Cushing's syndro me and polycystic ovary syndrome, a diagnosis of Carney Complex was made due to the presence of positive Stratakis criteria. The cardiac tumor was resected, and pathology confirmed that it was an atrial myxoma. She evolved clinically stable in outpatient controls in a 6-month follow-up. Resection of the pituitary microadenoma is planned as a curative treatment for Cushing's syndrome and arterial hypertension.

Resumen Mujer de 33 años, con antecedentes de hipertensión arterial desde los 8 años, hipotiroidismo, síndrome de ovario poliquístico, síndrome metabólico, nevos múltiples y antecedente familiar materno de muerte a los 50 años por hipertensión arterial maligna e insuficiencia cardiaca. Se diagnosticó síndrome de Cushing secundario a un mi croadenoma hipofisario secretor, siendo la causa de la hipertensión arterial secundaria, y descartándose otras causas como estenosis renal y coartación de aorta. Se realizó u n ecocardiograma transtorácico y transesofágico que detectaron un mixoma auricular izquierdo. Ante la presencia de un mixoma auricular, síndrome de Cushing y síndrome de ovario poliquístico se llegó al diagnóstico de Complejo de Carney por la presencia de criterios de Stratakis positivos. Se realizó la resección del tumor cardiaco, y la anatomía patológica confirmó que se trataba de un mixoma auricular. Evolucionó clínicamente estable en controles ambulatorios en un seguimiento de 6 meses, y se planifica la resección del microadenoma hipofisario como tratamiento curativo del síndrome de Cushing y la hipertensión arterial.

Complejo de Carney: reporte de un caso y revisión de la literatura / Carney complex: a case report and literature review

Resumen El complejo de Carney es una enfermedad caracterizada por lesiones en la piel, tumores endocrinos, cardiacos, gonadales y en otros órganos, que está asociada con mutaciones del gen PRKAR1A. Presentamos el caso clínico de una paciente con varias de las manifestaciones más características de este síndrome. Finalmente, se hace una revisión de la literatura.

Abstract Carney complex is a disease characterized by skin lesions, endocrine, cardiac, gonadal and other organ tumors, associated with mutations of the PRKAR1A gene. We present the clinical case of a patient with several of the most characteristic manifestations of this syndrome. Finally, there will be a review of the literature.

Repeated fracture-full moon face-perioral spotted pigmentation / 中华内分泌代谢杂志

Carney complex(CNC) is a rare disease in endocrinology, with osteochondromyxoma accounting for only 1% of it. This article details the diagnosis and treatment of a young female patient with recurrent fracture, full moon face and perioral spotted pigmentation. Combined with clinical manifestations, auxiliary examination and pathology, Carney complex with osteochondromyxoma was diagnosed. Multiple bone deformities in this case should be differentiated from McCune-Albright syndrome and ectopic ACTH secreting tumor with multiple bone metastases. The report of this case is helpful to improve the understanding of osteochondromyxoma in endocrinology, radiology, orthopedics and other disciplines, so as to avoid missed diagnosis and misdiagnosis.

Ultrasonographic features of cutaneous myxomas in a patient with Carney complex

Abstract Carney complex is a rare genodermatosis characterized by cardiac and cutaneous myxomas, among other tumors. In the majority of cases, cutaneous myxomas precede the diagnosis of cardiac myxomas, which are the main cause of death in these patients. Despite the fact that the diagnosis of cutaneous myxomas is histopathological, high-frequency ultrasonography plays an essential role in the differential diagnosis with other cutaneous and subcutaneous tumors. The authors of the present study describe, for the first time in the literature, the ultrasonographic features of both variants of cutaneous myxomas, superficial and subcutaneous, in a patient with a Carney complex.

A case of retroperitoneal schwannoma

Schwannoma are benign tumours of nerve sheath. They are also called as neurilemmoma. They are rare tumours arising from peripheral nerves, though they can occur anywhere on the body. Schwannoma can arise from any peripheral nerves or spinal nerves. Since they arise from nerve sheath forming schwannoma cells, they are never seen in brain or spinal cord. Schwannoma are often associated with neurofibromatosis-2, schwannomatosis and Carney complex where it is inherited in an autosomal dominant manner. They care often asymptomatic and diagnosed incidentally. Symptoms of schwannoma are related to pressure effects over the surrounding structures, such as limb pain, tingling and numbness, deafness and facial weakness as in vestibular schwannoma. However, most schwannoma are detected incidentally as in the case reported below. A 48 years female was diagnosed with an asymptomatic left para renal lump, which was later confirmed to be a retroperitoneal schwannoma. The patient had no complaints with respect to the lump. The patient underwent a successful surgical excision and had an uneventful recovery.

Hereditary pituitary tumor syndromes: genetic and clinical aspects

ABSTRACT The pituitary gland is responsible for the synthesis and secretion of various hormones that play a key role in regulating endocrine function and homeostasis. Pituitary adenomas (PA) are benign epithelial tumors arising from the endocrine cells of the anterior pituitary gland. Clinically relevant PA are relatively common and they occur in 0.1% of the general population. They are mostly benign monoclonal neoplasms that arise from any of the five hormone-secreting cell types of the anterior pituitary gland. PA are categorized as either functioning or non-functioning, depending on whether or not they produce a hormonal hypersecretion syndrome. Both functioning and non-functioning adenomas can produce symptoms or signs resulting from compression of the optic chiasm or invasion of cavernous sinuses. Only 5% of PA occur within the context of hereditary syndromes with reasonably well-defined oncogenic mechanisms. The vast majority of PA are sporadic, and their etiopathogenesis remains largely unknown. Pituitary tumor oncogenesis involves several mechanisms that eventually lead to abnormal cell proliferation and dysregulated hormone production. Among these factors, we found inactivating mutations of tumor suppressor genes, activating mutation of oncogenes and the participation of hormonal signals coming from the hypothalamus, all resulting in cell-cycle regulation abnormalities. In this review, we summarize the clinical and pathophysiological aspects of the different hereditary pituitary tumor syndromes.

Eyelid Myxoma in Carney Syndrome

PURPOSE: To report a case of eyelid myxoma in Carney syndrome. CASE SUMMARY: A 24-year-old male presented with a 4-year history of a slowly growing nodule at the right upper eyelid. The patient underwent surgical excision five times for the eyelid nodule, which recurred at the same site. He was diagnosed with Carney syndrome. The eyelid lesion was pinkish and lobulated, and the surface was firm and soft. The nodule was completely excised and a histopathological examination revealed a myxoid matrix containing spindle- or stellate-shaped cells and many thin-walled vessels. The nodule was diagnosed as myxoma. There was no recurrence at 13 months after surgery. CONCLUSIONS: Myxoma rarely involves the eyelid, but it should be considered in the differential diagnosis of multiple recurrent nodules of the eyelid. Complete excision is important if clinically suspected, and regular follow-up is needed after surgery. In addition, a thorough systemic evaluation, including echocardiography, should be performed to find any evidence of Carney syndrome.

Tríada de Carney. Una rara asociación de tumores infrecuentes: caso clínico / Carney triad: report of one case

Carney described a disorder characterized by the presence of several uncommon tumors which were pulmonary chondromas, gastric sarcomas and extra-adrenal paragangliomas. We report a 14 year-old girl in whom multiple gastric tumors were discovered during a study of an iron deficiency anemia and was subjected to a partial gastrectomy. At 25 years of age, she developed several pulmonary chondromas and at 33 years, a mediastinal tumor with features of an extra-adrenal paraganglioma was found. At 35 years of age, a total gastrectomy was performed to remove a gastrointestinal stromal tumor with excision of peritoneal and lymph node metastasis. One year later, the patient died due to liver failure secondary to liver metastases.

Carney Complex: Eleven Open Heart Operations in a Single Family

Herein, we report on a family with Carney complex. Four members of the family underwent a total of 11 open heart operations as well as 9 other operations to treat extrathoracic masses. All the family members met at least 2 major clinical criteria and 1 supplemental criterion. We analyzed their genomic loci, including the protein kinase A regulatory subunit 1 gene. The results revealed no specific mutations, except for a common single nucleotide polymorphism. This case series of Carney complex emphasizes the importance of close longitudinal follow-up because of the high rate of tumor recurrence irrespective of the site. Clinicians should not overlook the specific features of familial myxoma.

Surgical treatment of primary pigmented nodular adrenocortical disease / 中华泌尿外科杂志

Objective To discuss the surgical treatment of primary pigmented nodular adrenocortical disease(PPNAD).Methods twenty-four cases of PPNAD were treated in our hospital from January 2005 to December 2017.Clinical data of these patients were reviewed.It included 8 males and 16 females with a mean age of 23 years old (range 14 to 58).23 cases presented with typical symptoms of Cushing syndrome, 1 case presented with hypertension.Eight cases could be diagnosed with Carney complex.All cases were confirmed as ACTH-independent Cushing syndrome.Adrenal imaging showed bilateral multiple nodules in 11 cases, unilateral multiple nodules in 4 cases, unilateral single mass or nodule in 3 cases, normal adrenals in 6 cases.Results All of the 24 cases received laparoscope unilateral adrenalectomy or laparoscope unilateral mass resection.After the operation, 8 cases underwent secondary operation because of symptom recurrence and the elevated 24-hour urinary free cortisol.Among them, 5 cases received contralateral subtotal adrenalectomy, 3 cases received contralateral total adrenalectomy.Seven cases with a slightly elevated 24-hour urinary free cortisol but a good recovery of Cushing symptoms were followed-up.Nine cases recovered well after the first operation and they didn't undergo secondary surgical treatment, but 1 of the 9 cases needed glucocorticoid replacement.Conclusions Bilateral adrenalectomy followed with long-term glucocorticoid replacement is the standard treatment of PPNAD.Unilateral adrenalectomy or subtotal adrenalectomy may be suitable for elected patients, but appropriate criteria need to be explored.

Primary Multiple Cardiac Myxomas in a Patient without the Carney Complex

Cardiac tumors are rare, and multiple myxomas are even rarer. The latter phenomenon is mostly associated with the Carney complex, a dominantly inherited disease characterized by multiple primary cardiac myxomas, endocrinopathy, and spotty pigmentation of the skin. We report the rare case of a patient who did not have the Carney complex but had multiple primary cardiac tumors. A 78-year-old woman with a past history of breast cancer was referred to our hospital for further examination of multiple cardiac tumors. Echocardiography showed 4 tumors in the left atrium and left ventricle. We could not diagnose them preoperatively and decided to resect them surgically because they were mobile and could have caused embolism and obstruction. The postoperative pathological findings of all 4 tumors were myxomas, although the patient did not meet the diagnostic criteria of the Carney complex. Therefore, a rare case of multiple primary cardiac myxomas was diagnosed.

A Case of Epithelioid Blue Nevus Not Associated with Carney Complex in a Korean Woman / 대한피부과학회지

No abstract available.

Psammomatous melanotic schwannoma as a component of Carney complex.

Melanotic schwannoma is a rare form of pigmented neural tumor commonly arising from the posterior spinal nerves and ganglia. Two variants have been described, psammomatous and nonpsammomatous. 50% of psammomatous tumors are associated with Carney complex. The biologic behavior of the tumor is diffi cult to predict and slightly over 10% of the tumors follow malignant course. We present a case of psammomatous melanotic schwannoma as part of Carney complex in a 67-year-old male. Clinical examination revealed oral mucosal and abdominal skin pigmentation. Magnetic resonance imaging showed an intradural extramedullary lesion at D8-D12 level. Intraoperative squash smear study showed sheets of spindle cells with abundant intracytoplasmic melanin pigmentation and few psammoma bodies. Based on clinical, radiologic, and histopathological fi ndings with immunohistochemistry correlation a fi nal diagnosis of psammomatous melanotic schwannoma was rendered.

Síndromes lentiginosos familiares / Family lentiginous syndromes

Los síndromes lentiginosos familiares (SLF)involucran un amplio espectro fenotípico, que abarcadesde una predisposiciónhereditaria a desarrollar lentigos sinenfermedad sistémica hasta un riesgo incrementado en la formación de hamartomas, hiperplasias y otras neoplasias.El prototipo de SLF es el síndrome de Peutz-Jeghers, pero también se incluyen dentro de este grupo de patologías el complejo de Carney, el síndrome LEOPARD, el síndrome de Bannayan-Riley-Ruvalcaba, la enfermedad de Cowden, el síndrome de Laugier-Hunziker, la disección arterial con lentiginosis y las lentiginosis benignas (lentiginosis unilateral parcial y centrofacial).La presencia de lentigos es uno de los hallazgos semiológicos más prominentes en estos cuadros y probablemente, más que una característica clínica asociada, sea el reflejo de la convergencia entre vías de señalización de importancia crucial para la embriogénesis, la diferenciación de la cresta neural, el crecimiento de los órganos diana y el funcionamiento de una amplia gama de tejidos.En el presente trabajo se realiza una descripción detallada de cada uno de los SLF, incluyendo el mecanismo molecular involucrado, las manifestaciones clínicas, la metodología diagnóstica, el seguimiento y el tratamiento.

Familial lentiginosis syndromes involve a broad phenotypic spectrum that includesfrom hereditary predisposition to presentlentigines without systemic disease to the increased risk of hamartomas, hyperplasia and other malignancies development.The prototype is Peutz-Jeghers syndrome, but Carney complex, LEOPARD syndrome, Bannayan-Riley-Ruvalcaba syndrome, Cowden's disease, Laugier-Hunziker syndrome, arterial dissection with lentigines and benign lentiginosis (partial and unilateral centrofaciallentigines) are also included in this group.The presence of lentigines is the most relevant finding and probably more than a clinical feature associated represents a reflection of the convergence of crucial signaling pathways that are important to embryogenesis, differentiation of the neural crest, target organs growth and funcional of a wide range of tissues.In this paper we perform a detailed description of these syndromes, including the molecular mechanisms involved, clinical manifestationsdiagnostic procedures, monitoring, and treatment.

Complexo de Carney esporádico com tumor testicular e mixoma atrial: relato de caso / Sporadic Carney complex with testicular tumor and atrial myxoma: case report

O complexo de Carney é uma rara forma de neoplasia endócrina múltipla familial autossômica dominante. Está associado à alteração de pigmentação cutânea e mucosa, doença nodular adrenal pigmentosa primária, mixomas cardíacos e cutâneos, adenomas hipofisários funcionantes, neoplasia testicular, adenoma ou carcinoma de tireoide, além de cistos ovarianos. Aproximadamente 70% dos indivíduos diagnosticados com complexo de Carney têm pais afetados, e 30% apresentam forma esporádica. O objetivo deste estudo foi relatar um caso de complexo de Carney esporádico por mixoma cardíaco e tumor testicular. Ressalta-se a importância do caso por sua raridade e sua forma curiosa de apresentação. Homem, 33 anos, manifestou dois quadros de acidentes vasculares cerebrais em 4 meses. Na investigação apresentou pressão arterial elevada com sopro sistólico discreto e fraqueza muscular (força grau 4 em membro superior direito e grau 3 em membro inferior direito). História mórbida de tumor testicular de células de Sertoli há 7 anos com orquiectomia bilateral. História familiar sem particularidades. Na investigação, evidenciaram-se sobrecarga atrial esquerda ao eletrocardiograma e massa tumoral pedunculada compatível com mixoma atrial esquerdo ao ecocardiograma transesofágico. Foi configurada síndrome de Carney pela presença de dois critérios maiores, e o paciente foi submetido à atriotomia esquerda, com ressecção da massa tumoral e confirmação anatomopatológica. A curiosa apresentação do caso recorda que, diante de um caso de acidente vascular cerebral em paciente jovem, a suspeita clínica seja direcionada a causas mais raras. O complexo de Carney esporádico é raro, dificultando ainda mais a elucidação.

Carney complex is a rare form of autosomal dominant multiple endocrine neoplasia familial. Changing skin pigmentation and mucos, primary pigmented nodular adrenal disease, cardiac and cutaneous myxomas, functioning pituitary adenomas, testicular cancer, thyroid adenoma or carcinoma is associated, and ovarian cysts. Approximately 70% of individuals diagnosed with Carney complex have affected parents and 30% have sporadically. The aim of this study was to report a case of sporadic Carney complex due to cardiac myxoma and testicular tumor. We emphasized the importance of the case for its rarity and curious form of presentation. Man, 33, showed two episodes of strokes in 4 months. In research presented high blood pressure with mild systolic murmur and muscle weakness (grade 4 strengthin the right arm and grade 3 in the right lower limb). Morbid history of testicular Sertoli cell tumor 7 years ago with bilateral orchiectomy. No special family history. On investigation, left atrial enlargement and was evident on the electrocardiogram, and transesophageal echocardiogram revealed the presence of pedunculated tumor mass setting a left atrial myxoma. Carney's syndrome was characterized by the existence of two major criteria and patient underwent left atriotomy with resection of the tumor mass and anatomic-pathologic confirmation. The curious case presentation reminded us that before a case of stroke in a young patient should direct the clinical suspicion for rarer causes. The Carney complex sporadic is rare, yet difficult to elucidate.

A novel PRKAR1A mutation resulting in a splicing variant in a case of Carney complex

No abstract available.

Cutaneous myxoma: An important clue to Carney complex.

A 22-year-old male became unconscious and was found to have left-sided weakness and facial asymmetry. Previously, he had up to 35 excisions for subcutaneous swellings all over the body, commencing at age 6 years. Examination revealed small nodular skin lesions on the neck, the eyelid and hard palate. Two-dimensional echocardiography showed two left atrial masses. Histopathological examination of the subcutaneous lesions showed cutaneous myxomas with a prominent epithelial component. The left atrial masses were also myxomas. The case attempts to highlight the importance of histopathological examination of subcutaneous swellings. Cutaneous and subcutaneous manifestations, including cutaneous myxomas, are among the earliest presentations in Carney’s complex and may herald potentially fatal cardiac myxoma. The prominent epithelial component in cutaneous myxomas may be confusing and cause diagnostic difficulties.

A Case of Epithelioid Blue Nevus without Carney Complex / 대한피부과학회지

Epithelioid blue nevus is a rare variant of blue nevus that was first described in patients with Carney complex, a familial lentiginosis and multiorgan neoplasm (spotty cutaneous pigmentation, cutaneous/cardiac/mammary myxomas, endocrine overactivity, and psammomatous melanotic schwannomas). Epithelioid blue nevus is an intradermal melanocytic nevus composed of heavily pigmented globular and polygonal cells and lightly pigmented spindle and dendritic cells. Recently, cases of epithelioid blue nevi have been reported in patients without Carney complex. Herein, we describe a child who developed epithelioid blue nevus on her right foot without Carney complex symptoms and review the relevant literature.

Study of gene mutation in a Chinese family with Carney's complex / 中华内分泌代谢杂志

Objective To identify PRKAR1A mutations in a pedigree with Carney's complex through clinical investigation and molecular biology research,and to summarize the genetic law,characteristics,and clinical features of this family disease.Methods The family members received a detailed medical examination and related biochemical tests.The hereditary history and clinical features were recorded.DNAs of 12 family members were extracted from blood and 9 exons and adjacent introns of PRKAR1A were sequenced.Results PRKAR1A mutation intron4 c.440+4 delG was identified in 7 family members,including the proband's patient,who presented special signs of pigmentation on the lips,buccal mucosa,and fingertips.Conclusions The deletion mutation (c.440+4del G) in intron 4 of the PRKAR1A gene was found in this family,which is possibly associated with the phenotype skin pigmentation.