Perianal Paget's disease metachronically associated with adenocarcinoma

Introduction: This article describes an unusual case of perianal Paget's Disease in a 42-year-old man, highlighting distinct characteristics about more typical cases. Case report: 42-year-old male patient with persistent perianal lesion, recurrent abscesses, and discomfort. Magnetic resonance imaging indicated a possible fistulous path. Biopsy revealed secondary anal Paget's disease and adenocarcinoma. Chemotherapy and radiotherapy treatment demonstrated a positive response. Discussion: Perianal Paget's Disease is a rare condition of the anal canal that is part of the Extramammary Paget's Disease (EMPD) group. Symptoms include itching, pain, perianal bleeding, and skin lesions. Diagnosis can be challenging and usually involves performing a histopathological biopsy associated with an immunohistochemical study. Treatment varies and may involve surgery, radiotherapy, and chemotherapy. Due to the rarity of the disease, the best therapeutic approach is not yet well defined, and follow-up is essential due to the risk of recurrence. Conclusion: Perianal Paget's Disease is rare and requires differentiation from other conditions. Early detection is essential to prevent malignancy. (AU)

Treatment of Extramammary Paget Disease and the Role of Reflectance Confocal Microscopy: A Prospective Study.

BACKGROUND: Extramammary Paget disease (EMPD) poses treatment challenges. Invasive and noninvasive treatment modalities exist with variable success reported. Reflectance confocal microscopy (RCM) is emerging as an adjuvant diagnostic tool. OBJECTIVE: To evaluate the treatment of EMPD patients and the role of RCM. METHODS: Prospective study. Demographic and tumor characteristics were recorded. Handheld-RCM was performed and correlated with histology. Treatment, clearance, pathology, and follow-up were all recorded. RESULTS: Thirty-six EMPD lesions in 33 patients were included. Mean age was 71.7 years, and 23 were men. Mean number of surgical stages needed to clear margins was 1.9 (SD, 0.9; 1.0-3.0 stages), and mean margin needed to clear was 1.8 cm. Reflectance confocal microscopy correlated well with scouting punch biopsies (kappa, 0.93; p < .001). Disruption of the dermoepidermal junction was associated with invasive EMPD versus in situ (83.3% vs 25.9%) on histology (p = .01). LIMITATIONS: Relatively small sample size. CONCLUSION: Extramammary Paget disease is challenging, and lesion demarcation is of the utmost importance. Using a staged surgical excision approach, the mean margins needed were 1.8 cm, less than previously reported. Nonsurgical modalities, including radiation therapy, imiquimod, or photodynamic therapy can be considered if surgery is not pursued. Reflectance confocal microscopy is a valuable noninvasive imaging modality for the management of EMPD.

Vulvar Paget disease secondary to high-grade urothelial carcinoma with underlying massive vascular embolization and cervical involvement: case report of unusual presentation.

BACKGROUND: Vulvar extramammary Paget disease is a rare chronic condition, that presents with non-specific symptoms such as pruritus and eczematous lesions. Because most of these lesions are noninvasive, the distinction between primary and secondary Paget disease is crucial to management. CASE PRESENTATION: We report an unusual case of vulvar Paget disease associated with massive dermal vascular embolization, cervicovaginal involvement and metastasis to inguinal and retroperitoneal lymph nodes. The intraepithelial vulvar lesion had a classical appearance and was accompanied by extensive component of dermal lymphovascular tumor emboli, similar to those observed in inflammatory breast carcinoma. Immunohistochemical analysis revealed that the lesion was secondary to high-grade urothelial cell carcinoma. The patient had a history of superficial low-grade papillary urothelial carcinoma of the bladder, which had appeared 2 years before the onset of vulvar symptoms. CONCLUSIONS: Eczematoid vulvar lesions merit careful clinical examination and biopsy, including vulva mapping and immunohistochemistry. The information obtained may help to define and classify a particular presentation of Paget disease. Noninvasive primary lesions do not require the same aggressive approaches required for the treatment of invasive and secondary disease.

Perianal Paget's disease / Doença de Paget perianal

ABSTRACT Paget's disease most commonly affects the breast. Extramammary involvement is rare, and the most commonly affected sites are the vulva, anus, perianal region, and axilla. The disease may progress to invasive adenocarcinoma or synchronous cancers. Due to the lack of distinctive features and nonspecific presenting symptoms, Paget's disease may be misdiagnosed as other conditions, thus delaying the correct diagnosis. We report a case of extramammary Paget's disease in the perianal region that initially presented as an irregular, circumferential, scaling lesion with eczematous eruptions. Immunology and immunohistochemistry confirmed the diagnosis. Although surgery is the standard treatment, the patient opted for pelvic radiotherapy associated with radiosensitizing chemotherapy.

RESUMO A doença de Paget acomete mais comumente a mama. Os focos extramamários são raros e os locais mais habitualmente acometidos são vulva, ânus, região perianal e axila. A patologia envolve a evolução da doença para adenocarcinoma invasivo ou neoplasias sincrônicas. Devido à singularidade e sua aparência inespecífica, a doença pode ser confundida com outras comorbidades, retardando o diagnóstico. O objetivo foi relatar um caso de doença de Paget extramamária na região perianal, a qual inicialmente apresentou lesão circunferencial com erupção eczematosa, descamativa e irregular. A confirmação diagnóstica foi por meio de exames imuno-histoquímico e imunológico. O tratamento padrão da doença é cirúrgico, porém optou-se por radioterapia pélvica associada à quimioterapia radiossensibilizante.

Rare perianal extramammary Paget disease successfully treated using topical Imiquimod therapy.

BACKGROUND: Perianal Paget's disease (PPD) is a rare intraepithelial adenocarcinoma of the anal margin. Primary PPD likely represents intra-epithelial neoplasm from an apocrine source, whereas secondary disease may represent "pagetoid" spread from an anorectal malignancy. CASE PRESENTATION: Histologic CDX-2 and CK20 are hallmark markers for colorectal-derived Paget's cells. Interestingly, our primary PPD patient presented both positive and no internal malignancy was identified. In addition, a negative CK7 marker was observed in our case in contrast with previously reported. Surgical excision is the standard treatment; however, previous studies have demonstrated good response with Imiquimod 5% cream in patients with vulval extramammary Paget disease (EMPD). The efficiency of Imiquimod treatment for PPD has not been well described. Our PPD patient was successfully treated using Imiquimod 5% cream. CONCLUSIONS: This study describes a primary cutaneous PPD patient CDX-2+/CK20+/CK7- without invasion of the dermis and no associated colorectal carcinoma effectively treated using topical Imiquimod therapy, suggesting that Imiquimod might potentially be considered as a first-line treatment for PPD.

Enfermedad de Paget extramamaria de la vulva: a propósito de un caso clínico / Extramammary Paget's disease of the vulva: apropos of a clinical case

La Enfermedad de Paget extramamaria de la vulva es una neoplasia poco frecuente que representa solo el 1% de los cánceres de vulva. Clínicamente, se caracteriza por una placa eritematosa, bien definida, con erosiones y ulceraciones. El síntoma más frecuente es el prurito. Esta clínica tan inespecífica puede retrasar el diagnóstico, además de inducir a tratamientos inadecuados. El diagnóstico se realiza con estudio histopatológico e inmunohistoquímica, la cual orienta si es primario de piel o metástasis de otro cáncer, usualmente genitourinario o gastrointestinal subyacente. Actualmente no hay guías clínicas de tratamiento, pero dentro de las opciones la más aceptada es la cirugía de Mohs. Otros tratamientos incluyen uso de imiquimod, láser CO2, quimioterapia tópica o local, radioterapia o terapia fotodinámica. Cuando se trata de una enfermedad de Paget extramamaria primaria, el pronóstico es excelente y la mayoría de los pacientes fallece por otra condición. En cuanto a la enfermedad invasora, tiene una mortalidad de 13-18% con sobrevida a 5 años de 72% (1)

GATA3 expression in primary vulvar Paget disease: a potential pitfall leading to misdiagnosis of pagetoid urothelial intraepithelial neoplasia.

AIMS: GATA3 has been reported as a specific urothelial marker among organs in the pelvic region, and has been classified as highly sensitive and specific for urothelial and breast carcinomas. Our aim was to verify GATA3 expression in extramammary Paget disease, and to determine whether it can be use to differentiate primary vulvar Paget disease from pagetoid urothelial intraepithelial neoplasia (PUIN). We also analysed HER2 protein expression and HER2 gene amplification and their roles as prognostic factors in extramammary Paget disease. METHODS AND RESULTS: We analysed GATA3 and HER2 expression in 11 primary vulvar Paget disease cases and two PUIN cases. All cases showed nuclear expression of GATA3. Of 13 cases, five were equivocal for HER2 expression (score 2+) and one was positive (3+). Fluorescence in-situ hybridization results showed amplification in two of these six cases. Both HER2-amplified cases were invasive. CONCLUSION: GATA3 was positive in all extramammary Paget disease cases tested (13 cases), and it has no value for differentiating between primary and secondary vulvar Paget disease from the urological tract. HER2 amplification might confer an aggressive and invasive pattern in primary vulvar Paget disease, as both amplified cases showed an invasive pattern.

Enfermedad extramamaria de Paget, revisión bibliográfica y reporte de caso / Extramammary Paget's disease, literature review and case report

La enfermedad de Paget es un adenocarcinoma intraepidérmico poco frecuente que se presenta en el complejo areola-pezón o en su forma extramamaria en áreas como las regiones anogenital, perineal y axilar. La enfermedad de Paget extramamaria es un carcinoma epidérmico de diferenciación apocrina que se origina en la epidermis o secundario a la diseminación epidermotropa de neoplasias adyacentes o a distancia. Caracterizado histológicamente por la presencia de células tumorales típicas, denominadas células de Paget...

Enfermedad de Paget extramamaria: reporte de caso / Extramammary Paget's disease: case report

Se presenta el caso de una mujer de 67 años de edad, sin antecedentes de importancia, con un tiempo de enfermedad de un año. La paciente refiere una lesión tipo placa amarronada con áreas eritematosas y de bordes definidos, localizada en la región púbica izquierda, con extensión a la región inguinal, asociada a intenso prurito. Se le diagnosticó eccema y recibió tratamiento con corticoides tópicos, sin mostrar mejoría. Al momento de la evaluación, el examen físico no reveló adenopatías y los exámenes de laboratorio resultaron normales. El diagnóstico fue inmunohistopatológico, mediante el hallazgo de células de Paget y la tinción positiva para CK-7 y panqueratina, compatible con una enfermedad de Paget extramamaria, debida a diseminación intraepidérmica de un tumor primario de glándulas sudoríparas tipo adenocarcinoma in situ. La paciente fue sometida a una evaluación general para descartar una diseminación a distancia, pero no se encontró evidencia alguna. Se la trató exitosamente con cirugía escisional estándar con bordes libres y cursó favorablemente sin recurrencias cinco meses después.

A 67-year-old woman presented with a history of one year of pruriginous well defined brownish-reddish patch lesion on pubic area, which extended to inguinal area. An external diagnosis of eccema was made and the patient initiated treatment with topical corticosteroids for several months, without results. At present time, physical examination and laboratory evaluation did not reveal major alteration. A biopsy was taken and immunohistochemistry analysis was made, which revealed the presence of Paget's cells positive to CK-7 and pan Keratin. The results were compatible with extramammary Paget's disease secondary to intraepidermal dissemination of primary apocrine sweat glands adenocarcinoma. The patient underwent further evaluation to rule out distant metastases and was treated successfully with surgical excision alone with free margins. At follow-up five months later was still free of recurrences.

Enfermedad de Paget extramamaria / Extramammary Pagets disease

La enfermedad de Paget extramamaria (EPEM) es una entidad rara que presenta similitud clínica e histológica con múltiples patologías. Se asocia frecuentemente con carcinoma subyacente. Presentamos un caso de enfermedad de Paget extramamaria de localización perianal que fue tratada con radioterapia con excelente respuesta (AU)

Enfermedad de Paget extramamaria primaria de escroto / Primary scrotal extramammary Pagets disease

Presentamos un caso de enfermedad de Paget extramamaria (EPEM) en un varón de 78 años de edad. Clínicamente se presentó una lesión nodular a nivel del escroto no dolorosa. El examen histológico reveló una formación tumoral compuesta por células epiteliales con amplio citoplasma eosinófilo y núcleo vesiculoso, que conformaban estructuras ductales localizadas en la unión dermoepidérmica y dermis superficial. Focalmente penetraban en la epidermis subrayacente. La resección quirúrgica fue el tratamiento de elección (AU)

Enfermedad de Paget mamaria y extramamaria: dos entidades diferentes bajo un mismo nombre / Extramammary and mammary Paget's disease: two different clinical entities

La enfermedad de Paget mamaria es una neoplasia de carácter maligno, desarrollada principalmente en la areola mamaria y pezón, que se diagnostica por sus características histológicas específicas. Se considera una manifestación cutánea de un carcinoma subyacente, ya que en casi todos los casos se detecta una neoplasia maligna mamaria. La enfermedad de Paget extramamaria es una neoplasia intraepidérmica que se ubica en zonas donde existen glándulas apocrinas. Esta entidad se diferencia de la enfermedad de Paget mamaria en cuanto a su histogénesis, características tintoriales y frecuencia relativa de carcinomas subyacentes. En este artículo se describen las características más importantes de ambas entidades.

Paget's disease of the breast, diagnosed by specific histologic characteristics, is a malignant neoplasm that develops mainly in the areola and nipple. It is considered a cutaneous manifestation of an underlying carcinoma because a malignant neoplasm is almost always detected. Paget's extramammary disease is an intraepidermal neoplasm that is located in apocrine gland regions. This entity differs from Paget's mammary disease with respect to its histogenesis, staining qualities and relative frequency of underlying carcinomas. In this article we describe the most important characteristics of the both entities.

Enfermedad de Paget extramamaria y mamaria, anaplásica y acantolíca: presentación de 7 casos y revisión de la literatura / Paget disease, extrammamary and mammary, anaplastic, acantholytic: a report of 7 cases and review of the literature

La enfermedad de Paget extramamaria anaplásica y acantolítica (EPeMAA) y la enfermedad de paget mamaria anaplásica y acantolítica (EPMAA), son formas raras de la EP; no se sabe en el momento actual su frecuencia real. Se presentaron por arriba de la cuarta decada, en 4 mujeres y 3 hombres. Su evolución fué crónica, clínicamente fueron placas verrugosas, ulceradas, facilmente sangrantes, bien limitadas. Clínica e histológicamente se confundieron con enfermedad de Bowen y con el pénfigo vegetante. Microscópicamente se observó en todo el espesor de la epidermis células anaplásicas pequeñas, con núcleo ovoide, cromatina fina sin disqueratosis, escaso citoplasma; la acantólisis fué acentuada con formaciones vegetantes. Se observaron células clásicas de Peget en forma alterna; todos exhibieron ulceración y en la periferia la imagen típica de EP. En la base de la neoplásia hubo infiltrado linfocitario en banda "patrón liquenoide". En 4 de los casos se identificó neoplásia maligna sincrónica en la profundidad (1 caso Ca de conductos mamarios, 2 casos Ca de conductos de glándulas apócrina y 1 caso de Ca. de conductos de glándulas ecrina de tipo esclerosante) fueron positivos al antígeno carcinoembrionario (ACE) 5/5, al antígeno de membrana epitelial (AMA) 5/5, y a la citoqueratina de bajo peso molecular (Cqbpm) 5/5. Hay que hacer el diagnóstico diferencial con la enfermedad de Bowen (EB), melanoma de diseminación superficial (MMDS) y con el pénfigo vegete. No hay diferencias en pronóstico entre la EP mamaria y extramamaria clásica y la EPeMAA u EPMAA

Enfermedad de Paget extramamaria: estudio de cinco casos / Extrammamary Paget's disease: five cases study

La enfermedad de Paget es un carcinoma intraepidérmico de presentación particular, caracterizado clínicamente por lesiones eczematiformes crónicas e histológicamente por la presencia en epidermis, de células voluminosas claras, con perfil histoquímico epitelial glandular: las células de Paget. La enfermedad de Paget extramamaria es una entidad que presenta muchas similitudes clínicas con su homónimo mamario, pero diferencias histológicas y patogénicas. Presentamos cinco casos de enfermedad de Paget extramamaria: tres de localización vulvar, uno perianal y otro abdominal

Enfermedad de Paget extramamaria: estudio de cinco casos / Extrammamary Pagets disease: five cases study

La enfermedad de Paget es un carcinoma intraepidérmico de presentación particular, caracterizado clínicamente por lesiones eczematiformes crónicas e histológicamente por la presencia en epidermis, de células voluminosas claras, con perfil histoquímico epitelial glandular: las células de Paget. La enfermedad de Paget extramamaria es una entidad que presenta muchas similitudes clínicas con su homónimo mamario, pero diferencias histológicas y patogénicas. Presentamos cinco casos de enfermedad de Paget extramamaria: tres de localización vulvar, uno perianal y otro abdominal (AU)