Diagnosis and management of paget's disease of bone - series of 8 cases / Diagnóstico e manejo da doença de paget óssea - série de 8 casos

ABSTRACT Paget's disease of bone is a chronic condition characterized by focal abnormalities of absorption and formation of bone, and it may lead to anatomical deformities, pain, fractures, and malignant transformation. It is common in the UK, Australia, New Zealand, and North America and has a strong hereditary component, affecting first- to third-degree relatives. The etiology remains unclear and treatment is based on control of the disease with bisphosphonates, with the aim of relieving symptoms and correcting laboratory abnormalities. Surgical treatment may also be necessary to correct deformities or treat pathological fractures. This study evaluated the management and course of 8 patients with Paget's disease of bone, followed in the Orthopedic Clinic of this hospital. Among these patients, 1 had concomitant advanced prostate carcinoma, highlighting the association between Paget's disease and secondary bone diseases that can affect the differential diagnosis. Level of evidence IV, Study type: Case Series.

RESUMO A doença de Paget Óssea é uma afecção crônica, caracterizada por distúrbio focal da absorção e formação ósseas, podendo levar a deformidades anatômicas, dor, fraturas e malignização das lesões. É frequente no Reino Unido, Austrália, Nova Zelândia e América do Norte. Mantém forte relação de incidência com parentes de primeiro a terceiro graus. Sua etiologia ainda permanece incerta e o tratamento se baseia no controle da doença, com uso de bisfosfonados, visando melhora dos sintomas e das alterações laboratoriais. O tratamento cirúrgico também pode ser necessário, para correção de deformidades ou para tratamento de fraturas. Este estudo compilou oito pacientes em acompanhamento pela doença de Paget Óssea, no Ambulatório de Ortopedia deste hospital, acerca do tratamento realizado e como evoluíram. Dentre os pacientes acompanhados, houve um caso de carcinoma de próstata concomitante ao Paget, chamando atenção para outras patologias ósseas que são diagnósticos diferenciais ou coexistem com a doença. Nível de evidência IV, Tipo de Estudo: Série de Casos.

Enfermedad de Paget mamaria. Reporte de un caso clínico / Paget´s disease mammary. A clinical case report

Resumen ANTECEDENTES: La enfermedad de Paget mamaria es una alteración poco frecuente, caracterizada por cambios en el área del pezón-areola, que puede asociarse con carcinoma de mama in situ o invasor. CASO CLÍNICO: Paciente de 69 años, con lesión mamaria de tres años de evolución, cambios en la coloración del pezón y descamación, acompañados de prurito, de aspecto eritematoso y escamoso en el área del pezón-areola izquierda, con retracción del pezón; se obtuvo una biopsia del área del pezón-areola. El estudio de patología reportó células neoplásicas grandes, con infiltración a la epidermis, aisladas o en pequeños grupos, con citoplasma claro, vacuolado, núcleo agrandado y nucléolo prominente, característico de la enfermedad de Paget mamaria. El estudio de inmunohistoquímica reportó positividad para CK7 y HER2, y negatividad para p53 a células neoplásicas, con lo que se estableció el diagnóstico definitivo de enfermedad de Paget mamaria. La mastografía no mostró alteraciones y la mastectomía reportó carcinoma intraductal. CONCLUSIÓN: El conocimiento de la enfermedad de Paget mamaria tiene importancia clínica, puesto que representa una afección poco frecuente, que debe considerarse en el diagnóstico diferencial de lesiones benignas del complejo areola-pezón.

Abstract BACKGROUND: The Paget´s disease mammary is an uncommon malignancy that presents with changes in the nipple-areolar region that may be associated with an underlying breast cancer. CLINICAL CASE: A 69-year-old patient with a breast lesion of three years of evolution, changes in nipple, characterized by coloration and scaling, pruritus, with an erythematous and scaly appearance in the nipple-areola left region, and nipple retraction. A biopsy of the nipple-areola was obtained. The Pathology service reported large neoplastic cells, with infiltration to the epidermis, isolated or in small groups, with clear cytoplasm, vacuolated, enlarged nucleus and prominent nucleolus, characteristic of Paget's disease mammary. The immunohistochemistry study reported positivity for CK7 and HER2, and negativity for p53 to neoplastic cells, which established the definitive diagnosis of Paget's disease of the breast. The mammography was normal and the mastectomy reported intraductal carcinoma. CONCLUSION: The knowledge of mammary Paget's disease is of clinical importance, since it represents a rare condition, which must be considered in the differential diagnosis of benign lesions of the areola-nipple complex.

Enfermedad de Paget de la mama en una paciente suazí / Paget´s disease of the breast in a suazi patient

Se describe el caso clínico de una paciente de 63 años de edad, quien acudió a la consulta de Oncología del Hospital Gubernamental de Mbabane, en Suazilandia, por presentar una lesión ulcerada en el pezón de la mama izquierda desde hacía 1 año. Luego de realizarle una biopsia por escisión, que reveló la presencia de la enfermedad de Paget, clasificada en el estadio 0 según los resultados de los exámenes complementarios, se decidió remitirla al Servicio de Cirugía donde le practicaron una mastectomía simple. La paciente mostró buena evolución clínica y se mantenía estable hasta la última consulta en que fuera asistida

The case report of a 63 years patient who went to the Oncology Service of the Government Hospital of Mbabane, in Swaziland is described, due to an ulcerated lesion in the nipple of the left breast for 1 year. After carrying out an excision biopsy that revealed the presence of the Paget´s disease, classified in the stage 0 according to the results of the complementary tests, she was referred to the Surgery Service where a simple mastectomy was carried out. The patient showed good clinical course and she remained stable until the last appointment when she was assisted

Diagnosis and management of Paget?s disease of bone / Diagnóstico e tratamento da doença de Paget óssea

Objective: To conduct a literature review on the diagnosis and management of Paget’s disease of bone. Materials and methods: This scientific statement was generated by a request from the Brazilian Medical Association (AMB) to the Brazilian Society of Endocrinology and Metabolism (SBEM) as part of its Clinical Practice Guidelines program. Articles were identified by searching in PubMed and Cochrane databases as well as abstracts presented at the Endocrine Society, Brazilian Society for Endocrinology Annual Meetings and the American Society for Bone and Mineral Research Annual Meeting during the last 5 years. Grading quality of evidence and strength of recommendation were adapted from the first report of the Oxford Centre for Evidence-based Medicine. All grades of recommendation, including “D”, are based on scientific evidence. The differences between A, B, C and D, are due exclusively to the methods employed in generating evidence. Conclusion: We present a scientific statement on Paget’s disease of bone providing the level of evidence and the degree of recommendation regarding causes, clinical presentation as well as surgical and medical treatment. Arq Bras Endocrinol Metab. 2014;58(6):587-99 .

Objetivo: Conduzir uma atualização das últimas evidências científicas a respeito da apresentação, diagnóstico e manejo clínico da doença de Paget óssea. Materiais e métodos: Este documento foi concebido pelo Departamento de Metabolismo Ósseo da Sociedade Brasileira de Endocrinologia e Metabologia (SBEM) a partir daquele oriundo do Programa de Diretrizes da Associação Médica Brasileira (AMB). Realizamos uma revisão dos artigos mais relevantes obtidos nos bancos de dados PubMed e Cochrane, além de abstracts apresentados nos encontros anuais da Endocrine Society, Sociedade Brasileira de Endocrinologia e da American Society for Bone and Mineral Research dos últimos cinco anos e classificamos as evidências em níveis de recomendações de acordo com a força científica por tipo de estudo, adaptando o primeiro relato do “Oxford Centre for Evidence-based Medicine”. Todos os graus de recomendação, incluindo-se o “D”, foram baseados em evidência científica, sendo as diferenças entre o A, B, C e D devidas exclusivamente ao desenho empregado na geração da evidência. Conclusão: Apresentamos uma atualização científica a respeito da doença de Paget óssea, classificando e graduando em níveis de recomendações as principais evidências científicas sobre as suas causas, as variadas formas de apresentação, seu diagnóstico e tratamento. .

Analysis of clinicopathologic features and prognostic factors of 30 patients with extramamma-ry Paget’ s disease / 临床与实验病理学杂志

Purpose To evaluate the clinical and pathological features of extramammary Paget’ s disease ( EMPD) and to investigate the related prognostic factors. Methods The clinical and pathological data of 30 patients with EMPD were reviewed retrospectively. The HE slides in the file were rechecked. Immunohistochemical stains were performed on archival paraffin-embedded sections with En-Vision method in 20 cases. Follow-up data were recorded. The relationship between the clinicopathological parameters and prognosis was statistically analyzed. Results Among the 30 patients, there were 26 males and 4 females, aged from 53 to 88 years with median age 70. Macroscopically, typical presentations of EMPD were eczematoid lesions. Microscopically, Paget’s cells were distributed sin-gly or in groups ( as glandular or nests patterns) within the epidermis. Immunohistochemical stains showed that Paget’ s cells were pos-itive for CK7, and negative for CK5/6 and p63. Follow-up data were available in 23 cases, 8 cases recurred resection, among them, 6 patients had positive resected margin and 4 died. The recurrent rate and mortality between the groups of dermal invasion and no der-mal invasion (P0. 05). Conclusions CK7 is a sensitive and specific marker of Paget’s cells. Dermal invasion, lymphatic metastasis and positive resected margin are poor prognostic factors in EMPD.

Carcinoma in situ de la mama: actualización / In situ breast cancer: an update

Los carcinomas in situ de la mama son el primer estado de cáncer de mama morfológicamente reconocible y pueden evolucionar a un carcinoma de mama invasivo, aunque se desconoce la tasa precisa de progresión. Debido a que el carcinoma ductal in situ es un predictor de carcinoma ductal invasivo en el futuro, es importante la participación de la paciente en la toma de decisiones sobre el tratamiento; actualmente, existen indicaciones precisas para realizar tratamiento conservador o radical, pero cada caso se debe analizar en forma independiente. Por su parte, el carcinoma lobulillar in situ es solo un marcador de riesgo de carcinoma invasivo, muchas de las pacientes no requieren tratamiento y se pueden dejar bajo observación. En este módulo se presentan los avances sobre el carcinoma in situ de mama en sus dos variedades, ductal y lobulillar, en lo relacionado con las manifestaciones clínicas, las alteraciones genéticas, el diagnóstico, el pronóstico, el tratamiento y el seguimiento. De igual forma, se hará una actualización de la enfermedad de Paget.

Carcinoma in situ of the breast is the first morphologically recognizable stage of breast cancer; it can progress to invasive disease; however, the precise rate of progression to invasive cancer is yet unknown. As ductal carcinoma in situ is a predictor of invasive ductal carcinoma, the decision-making process for treatment should be achieved with the patient. Currently, there are particular indications on which cases require conservative treatment and which require a radical treatment; nevertheless, each case must be considered independently. Regarding lobular carcinoma in situ, it is only considered a risk factor to develop invasive cancer, many of the patients do not need treatment and a close follow-up is suggested. In this review article, an update in signs and symptoms of ductal carcinoma in situ and lobular carcinoma in situ is included, as well as an update of their genetic abnormalities, diagnosis, prognosis, treatment and follow-up. In addition, an update in Paget disease is included.

Enfermedad de Paget mamaria: análisis clínico de un caso y revisión de la literatura / Mammary Paget’s Disease: clinical analysis of a case and literature review

Resumen: Arch Med Interna 2012 - 34(3):88-90 La enfermedad de Paget mamaria es una manifestación cutánea poco frecuente del cáncer de mama, representando del 1 al 3% de estos tumores. La forma clínica clásica de presentación es través de una lesión eritematosa y descamante que involucra pezón y areola y que ocasionalmente puede producir secreción por el pezón o retracción del mismo. La búsqueda de un carcinoma subyacente es primordial para una correcta decisión terapéutica y condiciona el pronóstico de las pacientes. Presentamos el caso de una paciente de 58 años que consulta por una lesión que involucra pezón y aréola derechos de 3 años de evolución. Se realizó la evaluación imagenológica mediante mamografía y resonancia magnética (RM) mamaria y posteriormente la biopsia de la misma, diagnosticándose una enfermedad de Paget y realizándose el tratamiento correspondiente.

Mammary Paget’s disease is a rare manifestation of breast cancer,accounting for 1 to 3% of these tumors. The classic clinical presentation is is throug desquamative and erythematous lesion that involves nipple and areola, an occasionally can cause nipple discharge or nipple retraction. The search for an underlying carcinoma is essential for correct therapeutic decision and determines the prognosis of patients. We report a 58 years patient who presented with a lesion that involved right nipple and areola . Imaging evaluation was performed with mammography and breast Magnetic Resonance Imaging (MRI) . Biopsy of the clinical lesion was performed. Paget disease was diagnosed, performing the corresponding treatment.

Recuperação completa da doença de Paget extramamária decorrente da vulva (DPEM r-V) após tratamento com Imiquimode / Full recovery of recurrent extramammary Paget's disease of the vulva(rEMPD-V) after imiquimod treatment

Apesar de rara, a doença de Paget extramamária recorrente da vulva (DPEMr-V) é uma condição grave porque, subjacente à malignidade interna, podem acompanhar lesões cutâneas superficiais. A doença de Paget extramamária é uma condição caracterizada por erupção cutânea crônica tipo eczema de pele ao redor da região anogenital em homens e mulheres. Sob o microscópio,é muito parecida com o tipo mais comum da doença de Paget mamária, que ocorrena mama. A doença de Paget extramamária ocorre mais comumente em mulheres com idades entre 50 a 60 anos. Contudo, a excisão cirúrgica é o padrão geralmente aceito para a DPEMr-V. As taxas de recorrência da DPEMr-V são altas, apesar da intervenção cirúrgica agressiva. O tratamento tópico com imiquimod creme a 5% pode ser eficaz na remoção de lesões. Relatamos o caso de uma mulher de 72 anos com DPEMr-V comprovada por biópsia, tratada com sucesso com imiquimod, com aplicações três vezes por semana, durante 6 semanas.

Although rare, extramammary Paget's disease (EMPD) is a serious condition because underlying internal malignancy may accompany superficial cutaneous lesions.Extramammary Paget disease is characterised by a chronic eczema-like rash of the skin around the anogenital regions of males and females. Underthe microscope it looks very similar to the more common type of mammary Paget´s disease that occurs on the breast. Extramammary Paget disease mostcommonly occurs in women aged between 50-60 years. Although surgical excision is the generally accepted standard of care for EMPD. The EMPD-Vrecurrence rates are high despite aggressive surgical intervention, treatment with topical imiquimod 5 percent cream has reportedly been efficacious inclearing lesions.We report the case of a 72-year-old woman with biopsy-proven EMPD-V of the thigh treated successfully with imiquimod application thrice weekly for 6 weeks.

Enfermedad de Paget mamaria: comunicación de un caso y revisión de la literatura / Mammary Paget's disease: case report and review of the literature

La enfermedad de Paget mamaria (EP) es una manifestación superficial de enfermedad maligna de la mama. Suele presentarse entre 1 y 3% de todos los cánceres de mama y afecta principalmente mujeres entre los 50 y 60 años de edad. La forma clínica clásica se manifiesta con una placa infiltrada unilateral con eritema, escamas y en etapas avanzadas secreción del pezón o retracción del mismo. Presentamos el caso de una paciente de 51 años quién presentó dermatosis localizada a pezón izquierdo constituida por una placa eritemato-escamosa con costras hemáticas, de ocho meses de evolución, con prurito leve. Se le realizó biopsia y se diagnosticó enfermedad de Paget con carcinoma intraductal.

Paget's disease of the nipple is a superficial manifestation of an underlying breast malignancy. It has been reported in 1-3% of all breast carcinomas. The peak incidence is between 50 and 60 years. Its clinical presentation includes an unilateral, erythematous, slightly infiltrated scaly plaque and nipple retraction. Sero-sanguineous discharge may be observed. We here report a 51 year old woman who had an eight month history of an eritematous-squamous plaque with hematic scabs in the left nipple, with mild pruritus. A biopsy was taken and the diagnosis confirmed Paget's disease and intraductal breast carcinoma.

Two Cases of Laser Treated Extramammary Paget`s Disease / 대한비뇨기과학회지

Since Paget`s first description in 1874 of what is presently known as Paget`s disease of the nipple, similar lesions have been reported rarely on the penis and scrotum, vulva, perineum, axilla and the eyelids. Because it is often associated with a subjacent or visceral malignancy and recurrence, extramammary Paget`s disease(EPD) is considered as malignant condition. This case report describes two patients with extramammary Paget`s disease of the penoscrotal area. One of them had renal cell carcinoma in left kidney and was managed by radical nephrectomy. Treatments for EPD were initiated by CO2 laser 3 or 4 times, but failed and then we excised the lesion widely and closed primarily with split thickness skin graft in one of the cases.

Two Cases of Extramammary Paget' s Disease Showing a Good Response to Radiotherapy / 대한피부과학회지

We report the clinical evolution of two elderly male patients with extramammary Paget's disease who were treated with radiotherapy. Both cases primarily involved the scrotum and penile root, and were not associated with any underlying or visceral malignancy. The total doses administered were 6000 cGy and 3000 cGy, respectively. A good clinical response was achieved in both cases. No major side effects were observed. The patients are being followed for any signs of recurrence and have been completely asymptomatic to date

Paget`s Disease of the Scrotum: A Case Report with Local Lymph Node Invasion / 대한비뇨기과학회지

Extramammary Pager`s disease is a malignant condition. We experienced one case of Paget`s disease of scrotum in 76 years old male patient, The clinical presentation, treatment and prognosis of this lesion in the scrotum are discussed.

Extramammary Paget`s Disease of the Penis and Scrotum Report of 2 Cases / 대한비뇨기과학회지

Extramammary Paget`s disease of the penis and scrotum is a rare clinicopathologic entity often associated with an underlying carcinoma of anorectal origin. But it is rarely considered in the differential diagnosis of genital lesions. For this reason, emphasis is placed on the need for early biopsy of skin lesions in the genital area. We present two cases of penoscrotal extramammary Paget`s disease with unique clinical presentation and brief review of relevant literature.