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 novel mutation in PRKAR1A gene in a patient with Carney complex presenting with pituitary macroadenoma, acromegaly, Cushing's syndrome and recurrent atrial myxoma

SUMMARY Carney complex (CNC) is a rare syndrome of multiple endocrine and non-endocrine tumors. In this paper we present a 23-year-old Iranian woman with CNC who harbored a novel mutation (c.642dupT) in PRKAR1A gene. This patient presented with pituitary macroadenoma, acromegaly, recurrent atrial myxoma, Cushing's syndrome secondary to primary pigmented nodular adrenocortical disease and pigmented schwanoma of the skin. PRKAR1A gene was PCR amplified using genomic DNA and analyzed for sequence variants which revealed the novel mutation resulting in substitution of amino acid cysteine instead of the naturally occurring valine in the peptide chain and a premature stop codon at position 18 (V215CfsX18). This change leads to development of tumors in different organs due to lack of tumor suppressive activity secondary to failure of synthesis of the related protein.

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.

Malignant intercostal psammomatous melanotic schwannoma in a patient with Carney complex

No abstract available.

Mixoma cardíaco: reporte de caso / Cardiac Myxoma: Case Report

Los tumores cardiacos se pueden dividir en primarios y secundarios. Aproximadamente el 75% de los tumores primarios son neopla- sias benignas, de las cuales el mixoma repre- senta la mitad de los casos reportados. Esta neoplasia se observa habitualmente en adul- tos de 30 a 50 años de edad. Normalmente se presentan en aurículas cardíacas, siendo la izquierdo más afectado. Se han descrito casos familiares que originan el complejo mixomatoso, en el cual los mixomas son múl- tiples dando lugar al Síndrome de Carney. Se presenta el caso de paciente femenina de 30 años edad, cuyo cadáver fue llevado por personal del Ministerio Público a la morgue judicial de San Pedro Sula para que se le practicara la autopsia y determinar la causa de muerte. Fue llevada al hospital Dr. Mario Catarino Rivas por su esposo, con historia de dolor precordial. Con anteceden- tes previos de dolor torácico, tratada como osteocondritis, presentó falla cardíaca y falle- ció a los pocos minutos de llegar a la emer- gencia. El esposo solicitó autopsia para determinar causa de muerte, considerando que pudiera tratarse de un caso de Mal Praxis, se procede a realizar autopsia en la cual se determina la existencia de un mixoma cardiaco de 7x3 cm. en la aurícula derecha...(AU)

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.

Carney Complex with Multiple Cardiac Myxomas, Pigmented Nodular Adrenocortical Hyperplasia, Epithelioid Blue Nevus, and Multiple Calcified Lesions of the Testis: A Case Report

No abstract available.

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.

Fourth Recurrence of Cardiac Myxoma in a Patient with the Carney Complex

Although cardiac myxoma is the most commonly encountered benign cardiac tumor in cardiac surgery practice, recurrent cardiac myxoma is very rare, is most commonly related to the Carney complex, and usually requires multiple cardiac operations with specific requirements in terms of perioperative management. In this report, we describe a patient who experienced the fourth recurrence of cardiac myxoma and review the diagnostic criteria of the Carney complex. This is the first report of such a case in Korea.

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

No abstract available.

Síndrome incompleto de Carney / Incomplete Carney's triad

El síndrome de Carney es una enfermedad rara, con diferentes formas de presentación, que afecta principalmente al sexo femenino y es asintomática en la mayoría de los casos. Se caracteriza por la aparición de tumores, generalmente benignos, principalmente en el pulmón, la glándula suprarrenal y el estómago; sin embargo, se pueden afectar otros órganos como el esófago. Su tratamiento es principalmente quirúrgico. Se presenta el caso de una paciente con síndrome incompleto de Carney, manejada quirúrgicamente, con excelente resultado posoperatorio. Se hace una revisión de la literatura científica actual.

Carney's triad is a rare condition with multimodal presentations, which affects mainly females and remains asymptomatic in most cases. It is characterized by the appearance of tumors, usually benign, in lung, adrenal, and stomach, but it can also affect other organs like the esophagus. Treatment of these lesions is primarily surgical. The objective of this paper is to review the current literature and to report a case of an incomplete Carney's triad managed surgically with excellent postoperative results.

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.

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.

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

No abstract available.

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.

A Case of Epithelioid Blue Nevus Developing on the Lower Lip / 대한피부과학회지

Epithelioid blue nevus is a rare variant of blue nevus that has been recently described in patients with the Carney complex. However, sporadic cases have been reported even without the Carney complex. It typically presents as an asymptomatic, blue-gray, smooth-surfaced macule or papule occurring most often on the extremities and trunk. However, a few cases occurring on the mucosa have been reported. A 21-year-old man presented with a 0.4-cm sized solitary dark brownish or black papule on the lower lip. On histological examination, the major part of the specimen showed an infiltration of intensely pigmented epithelioid cells, the rest was composed of mildly pigmented spindle cells. There was no junctional activity, necrosis, or cellular atypia. These findings were consistent with epithelioid blue nevus. The patient did not exhibit any features associated with the Carney complex. No evidence of recurrence was observed during the follow-up period of 24 months. Herein, we report a rare case of epithelioid blue nevus arising on an unusual site.