Fumarate hydratase deficient uterine leiomyoma: a clinicopathological and molecular analysis of 80 cases / 中华病理学杂志

Objective: To investigate the clinicopathologic and molecular characteristics of fumarate hydratase (FH) deficient uterine leiomyoma. Methods: Eighty cases of FH deficient uterine leiomyoma were diagnosed from April 2018 to September 2022 in Department of Pathology, Peking University Third Hospital. Sanger sequencing of FH gene exons (exon 1-10) were performed on tumor tissues and matched non-tumor tissues/peripheral blood for all cases. FH immunohistochemistry were performed in 74 cases; S-(2-succino)-cysteine (2SC) were also detected by immunohistochemistry in five cases. Results: Patients' age ranged from 18 to 54 (36.0±7.5) years, with more than 60% exhibiting clinical symptoms of multiple and large leiomyomas (the median diameter was 70 mm). More than four histologic features, including staghorn vasculature, alveolar-pattern edema, bizarre nuclei, oval nuclei arranged in chains, prominent eosinophilic nucleoli with perinucleolar haloes and eosinophilic intracytoplasmic globules were observed in 98.5% (67/68) patients. The immunohistochemical sensitivity of FH and 2SC were 97.3% and 100%, respectively. Based on the Sanger sequencing results, the cases were divided into germline variant group (31 cases), somatic variant group (29 cases) and no variant group (20 cases). Sixty-nine percent (20/29) of the patients with FH germline variation had clear family history. Conclusions: Clinical features, histological morphology, FH and 2SC immunohistochemistry and Sanger sequencing have their own significance and limitations in differential diagnosis of FH deficient uterine leiomyoma. In clinical practice, the above information should be fully integrated and studied for accurate pathologic diagnosis and selection of patients with FH germline variation.

Analysis of phenotype and FH gene variation in a pedigree affected with hereditary leiomyomatosis and renal cell carcinoma syndrome / 中华医学遗传学杂志

OBJECTIVE@#To analyze clinical phenotype and genetic variants in a Chinese pedigree of hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome.@*METHODS@#Whole exome sequencing was carried out for the proband from the pedigree. Suspected FH gene variants were validated by Sanger sequencing. Clinical manifestation and histopathological examination were used to analyze the pedigree comprehensively.@*RESULTS@#The pedigree met the clinical diagnostic criteria for HLRCC syndrome. The whole exome sequencing showed that the FH gene of the proband had a heterozygous missense variant of c.1490T>C (p.F497S), which was consistent with the Sanger sequencing. The mother, daughter and son of the proband all had the heterozygous missense variant of c.1490T>C (p.F497S). According to the American Society of Medical Genetics and Genomics Classification Standards and Guidelines for Genetic Variations, c.1490T>C (p.F497S) (PM2+PP1-M+PP3+PP4) was a possible pathogenic variant. Based on our literature search, this variant was a new variant that had not been reported.@*CONCLUSION@#The FH gene missense variant of c.1490T>C (p.F497S) may be the cause of the HLRCC syndrome pedigree, which provides a basis for the genetic diagnosis and genetic counseling of the HLRCC syndrome.

Leiomiomatosis peritoneal diseminada en paciente histerectomizada / Disseminated Peritoneal Leiomyomatosis in a Hysterectomized Patient

La leiomiomatosis peritoneal diseminada es una entidad rara de etiología incierta, caracterizada por la proliferación de múltiples nódulos benignos en la cavidad peritoneal, formados por células musculares lisas, que pueden simular una carcinomatosis peritoneal. Es más frecuente en mujeres en edad fértil, durante el embarazo o por el uso de anticonceptivos orales. Se presenta el caso de una mujer de 40 años diagnosticada de leiomiomatosis peritoneal diseminada, sometida a una histerectomía simple por miomatosis uterina. Después de dos años del diagnóstico presenta una exacerbación de la enfermedad y se sospecha de malignización, por lo que se realiza una laparotomía exploratoria donde se observan múltiples nódulos miomatosos extendidos por epiplón, peritoneo y apéndice. Se le practica la exéresis de todos los nódulos (omentectomía, apendicectomía y anexectomía bilateral(. La biopsia confirma el diagnóstico de leiomiomatosis peritoneal diseminada. Actualmente, la paciente permanece asintomática tras 6 años de seguimiento(AU)

Disseminated peritoneal leiomyomatosis is a rare entity of uncertain etiology, characterized by the proliferation of multiple benign nodules in the peritoneal cavity. These nodules are formed by smooth muscle cells, which can simulate peritoneal carcinomatosis. It manifests predominantly in women of childbearing age, especially during pregnancy or with the use of oral contraceptives. We report here the case of a 40-year-old woman diagnosed with disseminated peritoneal leiomyomatosis, who underwent simple hysterectomy due to uterine myomatosis. Two years after the diagnosis, she presented with an exacerbation of the disease and malignancy was suspected. So exploratory laparotomy was performed. Multiple myomatous nodules were observed, extended by omentum, peritoneum and appendix. All nodules were removed -omentectomy, appendectomy and bilateral adnexectomy. Biopsy confirms the diagnosis of disseminated peritoneal leiomyomatosis. As of today, the patient remains asymptomatic after 6 years of follow-up(AU)

Correlación clínica, imagenológica e histológica en patología endometrial: experiencia en el hospital Dr. Francisco Antonio Rísquez (2006-2016) / Clinical, imaging and histological correlation in endometrial pathology: experience in the hospital Dr. Francisco Antonio Rísquez (2006-2016)

Para el estudio y diagnóstico de la patología endometrial se cuenta con el ultrasonido transvaginal y la biopsia de endometrio. Objetivo: Determinar la correlación clínica, ultrasonográfica e histológica en patología endometrial, en pacientes tratadas en el Servicio de Cirugía del Hospital Dr. Francisco Antonio Rísquez, entre 2006 y 2016. Métodos: Estudio retrospectivo, transversal. Se incluyeron las pacientes intervenidas quirúrgicamente por patologías uterinas, que contaron con información completa en la historia clínica. Se utilizó estadística descriptiva, sensibilidad, especificidad y coeficiente de correlación. Resultados: El grupo etario más afectado fue el de 41 a 50 años, con 62,73 %, el motivo de consulta más frecuente fue sangrado genital con 52 casos (47,3 %), 52 pacientes (47,3 %) presentaron sangrado menstrual abundante y 40 (36,4 %) refirieron sangrado abundante y prolongado. Ecográficamente, el diagnóstico más frecuente fue leiomiomatosis uterina (87 casos, 79,1 %). La línea endometrial estuvo entre 1,3 y 11,3 mm en 80,9 %; en 54 casos (49,1 %) la biopsia de endometrio reportó secretor sin atipia. No se observó correlación estadística entre la clínica y la biopsia de endometrio (p=0,478 Kappa=0,00). La correlación estadística entre el ultrasonido y la biopsia de endometrio fue casi perfecta (p=0,000 Kappa=0,947) y entre la biopsia preoperatoria y la definitiva fue moderada (p=0,000 Kappa 0,542). La sensibilidad del ultrasonido es de 100 % y especificidad de 90,91 %. Conclusiones: La sensibilidad y especificidad del ultrasonido respecto a la biopsia de endometrio fue elevada. La frecuencia de patología endometrial en la biopsia endometrial fue baja(AU)

For the study and diagnosis of endometrial pathology it has with transvaginal ultrasound and endometrial biopsy. Objective: To determine the correlation of clinical, ultrasound and histological endometrial pathology in patients treated in the service of surgery of the Hospital Dr. Francisco Antonio Rísquez, between 2006 and 2016. Methods: Retrospective, cross-sectional study. Included patients surgically treated by uterine pathologies, which counted with complete information in the medical record. We used descriptive statistics, sensitivity, specificity, and correlation coefficient. Results: The most affected age group was that of 41 to 50 years, in 62,73%, the reason for more frequent consultation was bleeding genital with 52 cases (47.3%), 52 patients (47.3%) they had heavy menstrual bleeding and 40 (36.4%) abundant and prolonged bleeding was referred. Ecograficamente, the most frequent diagnosis was uterine leiomyomatosis (87 cases, 794.1%). The endometrial line was between 1.3 and 11.3 mm 80.9%; in 54 cases (49.1%) the endometrial biopsy reported secretory without atypia. No statistical correlation between the clinic and the endometrial biopsy was observed (p = 0, 478 Kappa = 0, 00). The statistical correlation between ultrasound and endometrial biopsy was almost perfect (p = 0, 000 Kappa = 0, 947) and between preoperative biopsy and the final was moderate (p = 0, 0000,542 Kappa). The sensitivity of ultrasound is 100% and specificity of 90.91%. Conclusions: The sensitivity and specificity of ultrasound for endometrial biopsy was high. The frequency of endometrial pathology in endometrial biopsy was low(AU)

Leiomiomatosis benigna metastásica: reporte de caso clínico / Benign intraperitoneal metastatic leiomyomatosis: a case report

Benign intraperitoneal metastatic leiomyomatosis is a rare benign disease that is observed when a leiomyoma is present in the peritoneal surface. Women who have undergone hysterectomy for leiomyomas are most commonly affected. Patients are usually asymptomatic at presentation, being frequently an incidental finding in imaging studies. Ultrasound and CT play an important role in the diagnosis. The lesions are histologically identical to their uterine counterparts. There are different theories about the pathogenesis of the disease, including peritoneal seeding after laparoscopic hysterectomy. Others support the hypothesis of multiple independent foci of smooth muscle proliferation. Treatment, as in uterine leiomyomatosis, is generally conservative. We report a 53-year-old hysterectomized woman with intraperitoneal leiomyomas detected in a routine physical examination as mobile abdominal masses who underwent successful laparoscopic resection.

Hereditary leiomyomatosis and renal cell carcinoma syndrome: a case report and implications of early onset

Abstract Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) is an autosomal dominant manifestation of cutaneous and uterine leiomyomas together with renal cancer due to autosomal dominant germline mutations of fumarate hydratase gene. A twenty-year-old female patient presented with type-II segmental piloleiomyoma and increased menstruation due to uterine leiomyomas, with a history of bilateral nephrectomy performed at 13 and 16 years of age for type 2 papillary renal cell carcinoma. This case represents one of the very early onsets of hereditary leiomyomatosis and renal cell carcinoma syndrome. As genetic anticipation for renal cancer is a well-documented entity for HLRCC syndrome, early recognition is crucial for both the patient and her family in order to provide appropriate counseling and initiation of surveillance.

Pelvic Intravenous Leiomyomatosis - Case Report / Leiomiomatose intravenosa pélvica - caso clínico

Abstract Introduction Intravenous leiomyomatosis is a benign and rare condition that can result in cardiac events with fatal outcomes when left untreated. Intravenous leiomyomatosis is probably underestimated because the diagnosis is easily missed. We present a case of an intravenous leiomyomatosis without extra-pelvic involvement, with a brief review of this pathology. Case Report 46-year-old woman submitted to hysterectomy and bilateral adnexectomy because of a pelvic mass detected in ultrasound. During the surgery, intravenous leiomyomatosis diagnosis was suspected. Pathological analysis confirmed this suspicion. Further imaging exams were performed without detecting any anomalies related to this condition. The patient remained with no evidence of disease after one year of follow-up. Conclusion Intravenous leiomyomatosis is a rare condition that can lead to serious complications. Early diagnosis followed by an appropriate treatment is very important to patient outcome, and underdiagnoses can be counteracted if the gynecologist is aware of this entity.

Resumo Introdução A leiomiomatose intravenosa é uma condição benigna, rara, que pode resultar em eventos cardíacos, podendo ser fatal quando não tratada. Esta patologia está provavelmente subestimada, uma vez que facilmente não é diagnosticada. Neste artigo, apresentamos um caso de leiomiomatose intravenosa sem envolvimento extrapélvico, com uma breve revisão da patologia. Relato de Caso Mulher de 46 anos de idade, submetida a histerectomia e anexectomia bilateral após detecção ecográfica de massa pélvica. Durante a cirurgia, houve a suspeita de leiomiomatose intravenosa, e o exame anátomo-patológico confirmou o diagnóstico. A paciente foi submetida a outros exames de imagem, não sendo detectada qualquer anomalia relacionada com a patologia. Após um ano de followup, a paciente manteve-se sem evidência de doença. Conclusão A leiomiomatose intravenosa é uma condição rara que pode levar a complicações graves. O diagnóstico precoce e o tratamento adequado são muito importantes para o prognóstico da paciente, e os subdiagnósticos podem ser evitados se o ginecologista estiver ciente dessa entidade.

Leiomioma cutáneo atípico en un paciente con leiomiomatosis cutánea y mutación de la enzima fumarato hidratasa / Atypical leiomyoma in a patient with cutaneous leiomyomatosis and mutation of the enzyme fumarate hydratase

Se presenta un varón de 56 años con un leiomioma atípico en el contexto de una leiomiomatosis cutánea, con antecedentes familiares de miomatosis uterina y con estudio genético que revela una mutación en el gen de la enzima fumarato hidratasa, sin que hasta el momento presente ningún tipo de neoplasia maligna renal. El leiomioma atípico es un tumor poco frecuente, que usualmente ocurre de forma aislada, siendo excepcional la presentación en pacientes con leiomiomatosis cutánea. Es ampliamente conocida la relación de la mutación de la enzima fumarato hidratasa con leiomiomas mútiples, miomas uterinos y el mayor riesgo de desarrollar cáncer renal; sin embargo, el papel de esta mutación en el desarrollo de leiomiomas atípicos es por hoy imposible de esclarecer debido a los escasos casos recogidos en la literatura.

We report the case of a 56 year-old male with an atypical leiomyoma in the context of a cutaneous leiomyomatosis and a family history of uterine leiomyomatosis. The genetic study revealed a mutation in the gene for the enzyme fumarate hydratase, but he has not had any renal malignancy so far. Atypical leiomyoma is a rare tumor that usually presents as a single lesion and is exceptional in patients with cutaneous leiomyomatosis. The relation between fumarate hydratase enzyme mutations with multiple leiomyomas, uterine leiomyomatosis and an increased risk of developing kidney cancer is widely known. However, the role of these mutations in the development of atypical leiomyomas is still impossible to clarify given the few cases reported in the literature.

Uterine Intravenous Leiomyomatosis with Intracardiac Extension and Pulmonary Benign Metastases on FDG PET/CT: A Case Report

A 48-year-old woman presented with a 50-day history of irregular vaginal bleeding and lower abdominal pain. Ultrasound indicated an extremely large occupying lesion in the pelvic cavity that was highly suggestive of malignancy. Fluorodeoxyglucose (FDG) positron emission tomography/computed tomography (PET/CT) was performed to further assess the nature of pelvic abnormality. PET/CT images demonstrated a diffusely lobulated mass ranging from cervix up to the inferior pole of kidneys with mild FDG uptake. Simultaneously, multiple nodules in bilateral lungs and a hypodense lesion in the right ventricle were shown without FDG-avidity. Based on the imaging results, the presumptive diagnosis was uterine intravenous leiomyomatosis with intracardiac extension and pulmonary benign metastases, which was subsequently confirmed by MRI and the lesion biopsy.

Tumor intracardíaco como presentación de leiomiomatosis intravascular / Intracardiac tumor as presentation of intravascular leiomyomatosis

Presentamos un caso de leiomiomatosis intravascular que se extiende a cavidades cardiacas derechas, siendo tratado mediante cirugía en un tiempo.

We present a case of an intravenous leiomyomatosis extending into the right cardiac chambers, which was treated by one stage surgery.

Cutaneous leiomyomatosis in a mother and daughter / Leiomiomatose cutanea em mae e filha

A 34-year-old woman with no known medical history was evaluated for multiple painful brown nodules and papules on the anterior aspect of the trunk. She mentioned a history of similar cutaneous findings on her mother. Biopsies of three lesions revealed piloleiomyomata. Renal and adrenal ultrasound revealed an isolated simple cortical cyst, and pelvic and endovaginal ultrasound revealed two uterine myomata. The clinical diagnosis of hereditary leiomyomatosis and renal cell cancer was corroborated by the identification of a heterozygous variant on exon 5 of the fumarate hydratase gene (c.578C>T p.T193I). Identification of the tumor piloleiomyoma should alert the dermatologist to this rare genodermatosis, which is associated with an increased risk of renal cell tumors, demanding multidisciplinary follow-up, and personal and family counseling.

Uma mulher de 34 anos sem antecedentes patológicos conhecidos foi avaliada por apresentar múltiplos nódulos e pápulas castanhos, dolorosos, na face anterior do tronco. Referia história de achados cutâneos semelhantes na sua mãe. As biópsias de três lesões revelaram piloleiomiomas. As ecografias renal e suprarenal identificaram apenas cisto renal cortical simples, e as ecografias endovaginal e pélvica, dois miomas uterinos. O diagnóstico clínico de leiomiomatose herediária e câncer de células renais foi corroborado pela identificação de variante heterozigota no exon 5 do gene da Fumarato hidratase (c.578C>T p.T193I). O piloleimomioma é um tumor cuja identificação deve alertar o dermatologista para esta rara genodermatose, associada a um risco aumentado de tumores de células renais, exigindo seguimento multidisciplinar e aconselhamento pessoal e familiar.

Leiomiomatose endovenosa: abordagem anestésica a propósito de um caso clínico / Anesthetic approach for a clinical case of intravenous leiomyomatosis: case report / Leiomiomatosis endovenosa: abordaje anestésico a propósito de un caso clínico

JUSTIFICATIVA E OBJETIVOS: Descrevemos a abordagem anestésica a propósito de um caso clínico de leiomiomatose endovenosa, com invasão da veia cava inferior e extensão à aurícula direita, tratada com êxito por meio de abordagem cirúrgica. RELATO DE CASO: Doente do sexo feminino, 45 anos, aparentemente estável até duas semanas antes da ida à urgência, altura em que iniciou cansaço e dispneia. Fez ecocardiograma, no qual se constatou massa intracardíaca. Por isso, fez tumorectomia eletiva na transição veia cava-aurícula direita e ventrículo direito. À histologia, a peça operatória evidenciou sugestividade de leiomioma uterino. Posteriormente, para avaliar a extensão, fez-se tomografia computadorizada, que demonstrou extensão à veia cava inferior e ao ovário esquerdo. Foi então proposta para histerectomia total, anexetomia esquerda e salpingectomia direita, remoção de leiomioma intravenoso e colocação de filtro definitivo na veia cava inferior. Neste artigo descreve-se a abordagem anestésica com particular ênfase na correção das necessidades hídricas, bem como na evolução no pós-operatório, e salientam-se possíveis contributos à abordagem futura de casos semelhantes. CONCLUSÕES: O diagnóstico pré-operatório de leiomiomatose endovenosa é extremamente difícil. O tratamento consiste na extração cirúrgica. Esse procedimento envolve importantes perdas hemáticas e, por isso, condicionou a preparação pré-operatória. No intraoperatório a fluidoterapia foi fulcral e a monitoração invasiva se assumiu como preponderante no auxílio do equilíbrio hidroeletrolítico da doente. A existência de um laboratório de análises clínicas acessível e com resposta rápida e avaliação gasimétrica próxima foi determinante. A unidade de cuidados intensivos equipada com ventilador para os cuidados pós-operatórios revelou-se outra necessidade decorrente deste caso.

BACKGROUND AND OBJECTIVES: The aim of this study was to describe the anesthetic approach in a case of intravenous leiomyomatosis with invasion of the inferior vena cava and extension to the right atrium, successfully treated with surgical approach. CASE REPORT:Female patient, 45 years old, apparently stable until two weeks before the admission to the emergency department with complaints of fatigue and dyspnea. Echocardiogram was performed, which detected an intracardiac mass. Therefore, elective tumorectomy was performed in the vena cava-right atrium and right ventricle transition. Histological examination of the specimen suggested uterine leiomyoma. Subsequently, to assess the extent, computed tomography was done and showed extension to the inferior vena cava and left ovary. Hysterectomy, left adnexectomy and right salpingectomy, removal of intravenous leiomyoma, and permanent filter placement in the inferior vena cava were proposed. In this article, we describe the anesthetic approach with particular emphasis on the correction of fluid requirements, as well as postoperative evolution, and we highlight possible contributions to future approach of similar cases. CONCLUSIONS: Preoperative diagnosis of intravenous leiomyomatosis is extremely difficult. Treatment consists of surgical removal. This procedure involves major blood loss and, therefore, preoperative preparation was conditioned: intraoperative fluid therapy was central and invasive monitoring considered predominant to assist in fluid and electrolyte balance of the patient; the existence of a clinical laboratory accessible and with rapid response and blood gas assessment was crucial; the intensive care unit equipped with ventilator for postoperative care proved to be another requirement resulting from this case.

JUSTIFICATIVA Y OBJETIVOS: Describimos aquí el abordaje anestésico a propósito de un caso clínico de leiomiomatosis endovenosa, con invasión de la vena cava inferior y extensión a la aurícula derecha, que tuvo éxito por medio de un abordaje quirúrgico. RELATO DE CASO: Mujer enferma, de 45 años, aparentemente estable hasta dos semanas antes de su llegada a urgencias, en que debutó con cansancio y disnea. Hizo el ecocardiograma en que se comprobó masa intracardiaca. Por eso, se procedió a la tumorectomía electiva en la transición vena cava-aurícula derecha y ventrículo derecho. En la histología, la pieza operatoria mostró una sugestión de leiomioma uterino. Posteriormente, para evaluar la extensión, se realizó la tomografía computadorizada, que arrojó una extensión a la vena cava inferior y al ovario izquierdo. Entonces se propuso la histerectomía total, anexetomía izquierda y salpingectomía derecha, retirada de leiomioma intravenoso y colocación de filtro definitivo en la vena cava inferior. En este artículo, describimos el abordaje anestésico dándole un énfasis particular a la corrección de las necesidades hídricas, como también a la evolución en el posoperatorio, destacando posibles aportes al abordaje futuro de casos parecidos. CONCLUSIONES: El diagnóstico preoperatorio de leiomiomatosis endovenosa es extremadamente difícil. El tratamiento consiste en la extracción quirúrgica. Ese procedimiento involucra importantes pérdidas hemáticas y por eso, condicionó la preparación preoperatoria. En el intraoperatorio la fluidoterapia fue fundamental y la monitorización invasiva se asumió como preponderante en el auxilio del equilibrio hidroelectrolítico del enfermo. La existencia de un laboratorio de análisis clínicos accesible y con una respuesta rápida y una evaluación de la gasometría fue determinante. La unidad de cuidados intensivos equipada con ventilador para los cuidados postoperatorios fue otra necesidad originada por este caso.

Leiomiomatosis intravenosa de localización cervicovaginal / Intravenous cervicovaginal Leiomyomatosis

La leiomiomatosis intravenosa (LIV) es una patología poco frecuente caracterizada por la presencia de músculo liso en las venas miometriales del cuerpo uterino. Se presenta un caso de LIV limitado a cuello uterino y manguito vaginal. Se realizó histerectomía total con diagnóstico prequirúrgico de miomatosis uterina y menometrorragia. El diagnóstico de LIV fue anatomopatológico mediante técnicas de inmunohistoquímica. Si bien el 70 por ciento de las pacientes con LIV pueden ser curadas con cirugía, en un 30 por ciento de los casos existe persistencia o recurrencia a distancia de la enfermedad. En nuestro caso los controles a treinta meses de la cirugía fueron negativos e incluyeron estudios cardiovasculares, pulmonares, hepáticos y cerebrales.

Intravenous leiomyomatosis (IVL) cervicovaginal is an uncommon pathology, characterized by the presence of sooth muscle in the myometrial veins of the uterine body. A case of IVL is reported, limited to the cervix uteri and the vaginal muff. A total hysterctomy was performed, with presurgical diagnosis of uterine myomatosis and menometrorrhagia. The diagnosis of IVL was performed by clinicopathological analysis and by immunohistochemistry techniques. Although the 70 percent of the patients with IVL can be cured by surgery, in a 30 percentof the cases, there exists persistence and recurrency at distancy from the disease. In our case, the controls after 30 months since surgery were negatives, and included cardiovascular, pulmonary, hepatic and cerebral studies.

Familial leiomyomatosis cutis affecting nine family members in two successive generations including four cases of Reed's syndrome.

Reed's syndrome or familial leiomyomatosis cutis et uteri is an autosomal dominant disorder, characterized by multiple cutaneous and uterine leiomyomas. We report here a case of a 53-year-old woman who presented to us with multiple painful nodules over different parts of her body. Based on the histopathological examination, imaging, and past medical records, a diagnosis of Reed's syndrome was made. Three of her sisters had similar disease. Subsequently, it was found that a total of nine members of their family in two successive generations were affected with cutaneous leiomyomas. The present case series has been reported for its interesting clinical presentations and rarity.

Leiomiomatosis intravenosa de origen pelviano con extensión intracardiaca: Reporte de dos casos / Pelvic intravenous leiomyomatosis with intracardiac extension: Report of two cases

Background: symptoms predominate. Diagnosis is based on clinical findings and appropriate imaging. We report two females, aged 35 and 51 years. One of them presented with a pelvic mass and dyspnea, the other patient had severe cardiac failure on admission. Computed axial tomography scan allowed an accurate preoperative diagnosis on both patients. Successful one stage resection of the tumor was performed under cardiopulmonary bypass. Both patients are asymptomatic on follow up at 6 months and 25 years.

Você conhece esta síndrome? / Do you know this syndrome?

A paquioníquia congênita é uma rara genodermatose da ceratinização, primeiramente descrita em 1906 por Jadassohn e Lewandowsky. Além de pouco conhecida, a variabilidade fenotípica e as formas oligossintomáticas dificultam o diagnóstico. Relatamos uma família com três gerações afetadas, até recentemente sem diagnóstico. A busca ativa por casos familiares em pacientes com quadro suspeito e a identificação de manifestações peculiares de seus subtipos, como esteatocistoma múltiplo, permitem diagnóstico clínico precoce. Além disso, oportunizam a orientação familiar e de prognóstico ao portador.

Pachyonychia Congenita is a rare genodermatosis of keratinization, first described in 1906 by Jadassohn and Lewandowsky. Besides not being well known, phenotypic variability and oligosymptomatic subtypes make the diagnosis difficult. We report a family with three generations affected, until recently not diagnosed. The active search for familial cases in patients with suspicious manifestations and identification of peculiar characteristics of its subtypes, as multiplex steatocystoma, provide early clinical diagnosis. In addition, nurture the family counseling and informations about prognosis.

Do you know this syndrome? / Você conhece esta síndrome?

Piloleiomyoma, a benign smooth-muscle tumor arising from the arrectores pilorum muscles of the skin, affects males and females in the third decade of life. It presents as asymmetrical, reddish-brown nodules or papules with a firm consistency, predominantly located on the limbs. When multiple lesions are present, they may be tender or painful. Their association with uterine fibroids, referred to as Reed syndrome or familial leiomyomatosis cutis et uteri, is rare and may be associated with renal cell carcinoma. The approach consists of surgical excision in cases presenting few lesions and pharmacological treatment if symptomatic. The present paper describes a case of Reed syndrome in which a decision was made to monitor the patient in view of the absence of symptoms.

Tumor benigno de tecido muscular, o piloleiomioma tem origem no músculo eretor do pelo, atingindo ambos os sexos geralmente na terceira década de vida. Apresenta-se como nódulo-pápulas assimétricas nas extremidades, de cor eritêmato-acastanhada e de consistência firme. As lesões, quando múltiplas, podem ser sensíveis ou dolorosas. Sua associação com miomas uterinos, denominada de síndrome de Reed ou leiomiomatose cutis et uteri, é apresentação rara, podendo estar associada a carcinoma de células renais. A abordagem é cirúrgica em casos isolados e medicamentosa se houver sintomas. Relatamos um caso de síndrome de Reed em que se optou por acompanhamento pela ausência de sintomatologia.

Você conhece esta síndrome? / Do you know this syndrome?

Relata-se o caso de uma paciente com associação de múltiplos dermatoleiomiomas e miomatose uterina, de longa evolução. Trata-se de doença pouco diagnosticada, conhecida como Síndrome de Reed. Destaca-se a obrigatoriedade e a importância da investigação sistêmica, em busca de neoplasia renal, que se relaciona com a síndrome.

Report on the case of a patient with a combination of multiple uterine and dermatoleiomiomas and uterine miomatosis of long evolution. It is a rarely diagnosed disease known as Reed's syndrome. The study highlights the requirement for, and importance of, systemic investigation for kidney cancer, which is related to the syndrome.

Você conhece esta síndrome? / Do you know this syndrome?

A síndrome do Nevo de Becker consiste na associação do nevo de Becker com hipoplasia mamária e outras alterações ósseas ou musculares ipsilaterais a lesão. È considerada desordem hormônio dependente causada pelo distúrbio na atividade do receptor de androgênios que parece estar aumentado no nevo de Becker podendo influenciar no desenvolvimento das lesões associadas. Apresentamos um caso relevante desta síndrome pela raridade da sistematização das lesões, além do exuberante acometimento extracutâneo neste caso.

Becker nevus syndrome is the association of Becker's nevus with breast hypoplasia and other ipsilateral bone or muscle changes. It is considered to be a hormone-dependent disorder caused by a disturbance in the activity of the androgen receptor that appears to be increased in Becker's nevus, which may influence the development of associated lesions. We present a relevant case of this syndrome due to the rare systematization of the lesions in addition to the exuberant extracutaneous involvement in this case.

Intracardiac leiomyomatosis: Report of two cases.

Intravenous leiomyomatosis is an example of unusual growth patterns that is sometimes exhibited by uterine leiomyomas, characterized by smooth muscle proliferations within the uterine or pelvic veins. Extension into the heart via the inferior vena cava is even rarer and is designated as intracardiac leiomyomatosis. This is a report of two such cases that had preoperative diagnoses of a thrombus and right atrial myxoma, respectively.