Case Report

Beyond the Surface: Dermoscopic, Clinical, and Histopathological Insights Into Secondary Extramammary Paget Disease of the Glans Linked to Urothelial Carcinoma

Beyond the Surface: Dermoscopic, Clinical, and Histopathological Insights Into Secondary Extramammary Paget Disease of the Glans Linked to Urothelial Carcinoma

Extramammary Paget's Disease (EMPD) is a rare, slow-growing cancer that typically affects areas rich in apocrine glands, such as the vulva, perianal region, scrotum, and less commonly, the glans penis. EMPD can be either primary, originating in the skin, or secondary, resulting from the spread of internal cancers like urothelial carcinoma. This case discusses secondary EMPD of the glans in a 79-year-old man with a history of high-grade urothelial carcinoma. The condition was diagnosed through biopsy and immunohistochemical markers, including CK7, CK20, and p63. Secondary EMPD can be challenging to diagnose due to its similarity to benign dermatological conditions and requires a high index of suspicion, thorough clinical examination, and histopathological evaluation. Treatment options include surgery, Imiquimod, and photodynamic therapy, though further research is needed to improve management strategies for this rare condition.

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A Case of Advanced Extramammary Paget’s Disease With a High Tumor Mutation Burden That Showed Partial Lymph Node Regression With Pembrolizumab

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A Case of Advanced Extramammary Paget’s Disease With a High Tumor Mutation Burden That Showed Partial Lymph Node Regression With Pembrolizumab

Pembrolizumab has been found effective against various solid tumors with high tumor mutation burden, but there are no reports of successful treatment with pembrolizumab for extramammary Paget's disease (EMPD) with a high tumor mutation burden (TMB). This report describes a 71-year-old male patient who presented with irregularly shaped erythematous lesions on his scrotum, which had been there for several years. He was diagnosed with EMPD. A gene panel test indicated a high TMB. Six months after radical surgery, many lymph node metastases were found. We started a combination chemotherapy of tegafur-gimeracil-oteracil potassium (TS-1) and docetaxel. After three courses, a CT scan showed reductions in the sizes of all the metastatic lesions. However, the treatment was switched to pembrolizumab at the patient’s request. After four cycles of the pembrolizumab treatment, a CT scan showed further shrinkage in most of the lymph node metastases. As far as we know, the present patient is the first case of advanced EMPD with response to pembrolizumab monotherapy.

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Invasive acantholytic anaplastic extramammary Paget disease: A previously unreported neoplasm in the vulva and review of the literature

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Invasive acantholytic anaplastic extramammary Paget disease: A previously unreported neoplasm in the vulva and review of the literature

This report describes the first documented invasive acantholytic anaplastic extramammary Paget disease (AAEMPD) of the vulva. An 87-year-old female presented with a recurrent vulvar lesion refractory to topical imiquimod and treated with multiple wide local excisions (WLE). Microscopic examination of the final WLE specimen revealed unique histologic features, primarily supra-basal intraepidermal acantholysis with epidermal papillomatosis and hyperkeratosis. The epidermis, composed of two distinct cell populations, exhibited full-thickness atypia. Paget cells with high mitotic activity were present in the basal and parabasal layers surrounding benign squamous cells in the mid-squamous mucosa. The histologic features were suspicious of the EMPD involving a warty lesion and/or invasive squamous cell carcinoma. In addition to the intraepidermal component, dermal invasion was also present with lymphovascular space invasion. Immunohistochemical studies (KRT7, HER2, and GATA3 reactivity in Paget cells, p63 negativity, and rare mucin in Paget cells) supported the diagnosis of acantholytic anaplastic EMPD. AAEMPD, a rare variant of EMPD, shares similar prognosis and behavior with the classic Paget disease. Recognition and accurate diagnosis of this subtype is crucial for optimal patient management, given distinct treatment strategies compared with other entities in the differential diagnosis.

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Maladie de Paget extramammaire, primitive et multisiège chez un homme de 77 ans

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Maladie de Paget extramammaire, primitive et multisiège chez un homme de 77 ans

Un homme de 77 ans a consulté pour des plaques érythémateuses et squameuses sur les régions génitale, sus-pubienne et sous les aisselles, diagnostiquées initialement comme eczéma ou infection fongique, mais ne répondant pas aux traitements. Les biopsies ont révélé des signes de maladie de Paget extramammaire, confirmée par des examens complémentaires ne montrant aucune tumeur interne. Une exérèse locale large a été effectuée avec succès, sans récidive en 4 ans. La maladie de Paget extramammaire, souvent confondue avec d'autres affections cutanées, nécessite un diagnostic précis pour un traitement efficace.

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Simultaneous Occurrence of Two Ectopic Extramammary Paget Disease Lesions: A Case Report

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Simultaneous Occurrence of Two Ectopic Extramammary Paget Disease Lesions: A Case Report

Paget disease of the breast is a malignant tumor that occurs primarily on the skin of the nipple, whereas extramammary Paget disease occurs on the skin in regions other than the breast, such as the pubis, perianal area, and axilla. Paget disease can also arise outside these areas; this is referred to as ectopic extramammary Paget disease. In this study, we present a case of a Japanese woman in her 70s who experienced simultaneous occurrence of two ectopic extramammary Paget disease lesions on the skin of the anterior chest and left buttock. Both lesions, exceeding 5 cm in diameter, were surgically excised, and the histopathological examination led to a diagnosis of ectopic extramammary Paget disease without invasion. To the best of our knowledge, this is the third reported case of multiple simultaneous ectopic extramammary Paget disease. Clinically, diagnosis of a patient with ectopic extramammary Paget disease is challenging because of its unusual location; however, the disease may be considered a differential diagnosis for Bowen disease.

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Navigating the Maze: Insights from a Case Series of Vulval Extramammary Paget’s Disease

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Navigating the Maze: Insights from a Case Series of Vulval Extramammary Paget’s Disease

Extramammary Paget’s remains a rare neoplastic condition, which although shares the name with Paget’s disease of the breast, is a distinct entity. The condition predominantly affects the epidermis of the vulval skin of postmenopausal women. In this case series, we present the cases of two geriatric patients who were diagnosed with this rare condition and the different treatment options available in managing the disease. Despite its rarity, understanding of this neoplastic condition is vital due to its potential for misdiagnosis and its impact on patient quality of life.

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Whole genome sequencing of HER2-positive metastatic extramammary Paget’s disease

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Whole genome sequencing of HER2-positive metastatic extramammary Paget’s disease

Extramammary Paget’s disease (EMPD) is a rare cancer that occurs within the epithelium of the skin, arising predominantly in areas with high apocrine gland concentration such as the vulva, scrotum, penis and perianal regions. Here, we aim to integrate clinicopathological data with genomic analysis of aggressive, rapidly-progressing de novometastatic EMPD responding to HER2-directed treatment in combination with other agents, to attain a more comprehensive understanding of the disease landscape

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Unusual case of extramammary Paget disease of the oral mucosa: A case report and literature review

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Unusual case of extramammary Paget disease of the oral mucosa: A case report and literature review

Paget disease is an intraepithelial neoplastic proliferation, commonly occurring in the breast and apocrine-rich areas, often associated with an underlying internal malignancy. Extramammary Paget disease (EMPD) of the oral cavity is exceedingly rare, with only eight reported cases, four of which were associated with an underlying internal malignancy. Here, we report a case of oral EMPD involving the buccal mucosa and gingiva of an 81-year-old male with no known underlying internal malignancy. The Paget cells were positive for CK7, CK20, CAM5.2, and androgen receptor, but negative for SOX10 and p63. The immunophenotype, association with internal malignancies, and treatment approaches for oral EMPD are reviewed.

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Extramammary Paget Disease of Oral Mucosa: Case Report with Literature Review

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Extramammary Paget Disease of Oral Mucosa: Case Report with Literature Review

Extramammary Paget disease (EPMD) of the oral mucosa is an unusual and extremely rare condition, with fewer than ten cases documented. Here, we report a case of EMPD extensively involving oral mucosa and underlying salivary ducts in a 72-year-old male and review published clinical, histologic, immunophenotypic, and prognostic features of this rare entity.

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Long-Term Complete Response and Survival in Metastatic Extramammary Paget’s Disease Treated With Trastuzumab Plus Paclitaxel: A Case Report

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Long-Term Complete Response and Survival in Metastatic Extramammary Paget’s Disease Treated With Trastuzumab Plus Paclitaxel: A Case Report

Extramammary Paget’s disease is a rare skin cancer that usually arises from the secretory cells of the apocrine glands. In most cases, an extramammary Paget’s tumor occurs as a single intraepithelial form not associated with another cancer, although rarely, it may be associated with other loco-regional or distant cancer. In this case report, we have observed a long-lasting complete response with anti-HER2 plus paclitaxel.

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How to Surveil Perianal Paget's Disease: A Case Report

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How to Surveil Perianal Paget's Disease: A Case Report

Perianal Paget’s disease (PPD) is a rare manifestation of extramammary Paget’s disease. It is characterized by the presence of malignant glandular epithelial cells within the squamous epithelium. There is a well-established but poorly understood association between PPD and underlying malignancy. Due to the rarity of the disease, there are no established guidelines for treatment or surveillance of PPD. We present the unusual case of a 73-year-old woman with primary PPD without an underlying malignant lesion. The rarity of the disease renders its management and surveillance an ongoing challenge. Our case of PPD without an underlying malignancy poses the question of the most appropriate surveillance for this rare disease.

Extramammary Paget's Disease of the Glans Penis Secondary to a Recurrent Urothelial Carcinoma of the Bladder

Extramammary Paget's Disease of the Glans Penis Secondary to a Recurrent Urothelial Carcinoma of the Bladder

A 71-year-old man presented with an erythematous plaque around the urinary meatus that had been slowly enlarging for the past eight months. Six months before presentation, the patient was treated based on an impression of eczema. He had a history of radical cystectomy with ileal conduit urinary diversion for urothelial carcinoma of the bladder three years previously. The resected margin was negative and no recurrence had been detected afterward. Physical examination revealed a scaly, erythematous plaque around the urethral orifice.

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Radiotherapy in Extramammary Paget’s disease

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Radiotherapy in Extramammary Paget’s disease

Extramammary Paget’s disease (EMPD) is a rare and heterogeneous clinical picture usually recorded on apocrine gland-bearing epidermis areas in extramammary sites, showing a potential invasive evolution and poor prognosis. At diagnosis, it could appear as a primary tumor with secondary co-exhisting visceral malignancies like in anus, male or female genital system, which should be assessed. This rare epidermal carcinoma generally occurs in individuals older than 60 years mainly in Caucasian female and Asian male ethnicity. Although the pathophisiology has been well established, its management is still controversial and requires a multidisciplinary team approach. There are several therapeutic strategies. Among them, radiotherapy is accounted as an effective option in primary or in adjuvant timing but up to now no definitive role has been assessed. Data by case series, case reports and retrospective analyses have provided results on the positive benefit of HDR brachytherapy or external beam radiotherapy (EBRT) mainly in very old patients not suitable for extended surgery, which remains the main treatment care. Long course radiotherapy is a big concern in elderly patients due to logistics and care assistance deficiencies, which makes their access difficult to the radiation centres. Thus, hypofractionated radiotherapy regimens could be a good compromise problem solving to provide excellent local control within a short treatment time. Herein, we present a case of EMPD occurring in a 80 years old woman with vulvo-perineal extension successfully treated with hypofractionated external beam radiotherapy as primary treatment using a schedule 300cGy/fr/51 Gy in 17 treatment days.

Extramammary Paget's disease: A case report

Extramammary Paget's disease: A case report

A 72-year-old man was admitted to the hospital with a genito-femoral lesion of the skin. The lesion started in the right groin and increased slowly in size for 10 years. It was oozing intermittently. ln the last 1 1/2 years he had observed a papillary growth on the right thigh adjacent to the inguinal fold. There had been considerable pain but no itching. The lesion had been treated for years as "eczema" or mycotic infection with a great number of topical agents.

Docetaxel treatment for widely metastatic invasive vulvar extramammary Paget’s disease with multifocal bone metastasis

Docetaxel treatment for widely metastatic invasive vulvar extramammary Paget’s disease with multifocal bone metastasis

Invasive extramammary Paget’s disease (EMPD) of the vulva, first identified in 1901, typically affects Caucasians aged 50–65. Approximately 65% of EMPD cases occur in the vulva, representing 1–6% of vulvar cancers in the U.S., with an incidence of 0.36 per 100,000 person-years. Metastasis to lymph nodes worsens prognosis, and 44% of Japanese patients with regional lymph node metastasis develop distant metastasis. Due to the disease's rarity, high-quality interventional or outcomes data are scarce, and randomized clinical trials are unlikely. Treatment for metastatic EMPD is based on retrospective case reports or small series, with varying regimens including monotherapy (docetaxel, cisplatin, 5-FU) and multi-agent chemotherapy (5-FU/cisplatin, cisplatin/epirubicin/paclitaxel). Specific treatment details and efficacy for metastatic vulvar EMPD are lacking. This report highlights a case where monthly low-dose docetaxel achieved a highly effective, durable response with minimal toxicity.

Scrotal Extramammary Paget’s Disease in an Elderly Caucasian Male

Scrotal Extramammary Paget’s Disease in an Elderly Caucasian Male

Extramammary Paget’s disease (EMPD) is a rare dermatologic malignancy affecting regions with a dense population of apocrine glands within the intraepithelial tissue, including the vulva, perineum, axilla, scrotum, and penile regions. Clinical presentation varies from being asymptomatic to burning, painful, and pruritic lesions. As a result, it could be misdiagnosed for other dermatologic diseases. Our case report discloses a patient with an erythematous pruritic lesion that was initially treated with topical antifungal therapy. After failed treatment, a biopsy revealed EMPD of the scrotum. With no standard guidelines in the treatment of EMPD, there are different treatment modalities for the disease. Mohs micrographic surgery currently is the preferred treatment modality presenting with the lowest rates of recurrence. With early diagnosis and treatment, the five-year survival rate for patients with primary EMPD is 87%. Therefore, there should be a high level of clinical suspicion for EMPD in patients presenting with pruritic lesions in areas with apocrine glands that have failed initial medical treatment.

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Well-demarcated erythematous plaque on the arm

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Well-demarcated erythematous plaque on the arm

A 67-year-old Caucasian man presented with an asymptomatic, well-defined, irregular shaped, erythematous scaly plaque on the left upper arm for five years. There was no cervical or axillary lymphadenopathy. A skin punch biopsy was performed from the plaque. Histopathological examination showed hyperkeratosis, acanthosis and atypical large pale cells with abundant vacuolated cytoplasm in the epidermis. There was no dermal invasion. Tumor cells were positive for cytokeratin 7, but negative for cytokeratin 20, P63 and Melan A by immunohistochemistry.

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Toluidine blue for extramammary Paget’s disease in Mohs micrographic surgery

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Toluidine blue for extramammary Paget’s disease in Mohs micrographic surgery

We report an elderly gentleman with Extramammary Paget’s disease (EMPD) treated with Mohs micrographic surgery (MMS) using Toluidine blue staining intraoperatively as to detect the Paget’s cells. An elderly man presented with an erythematous plaque on the left inguinal fold which showed in-situ EMPD on histopathological examination. Investigations for secondary EMPD were negative and the patient was treated with MMS. During MMS, the specimens from the patient were stained using Toluidine blue in order to detect the Paget cells and to determine the appropriate negative margin. At 4 years follow up the patient is free of recurrence. Toluidine blue is a fast, user-friendly dye that can be used intraoperatively during MMS as to detect Paget cells and thus to determine the appropriate negative margin.

Well-demarcated erythematous plaque on the arm

A 67-year-old Caucasian man presented with an asymptomatic, well-defined, irregular shaped, erythematous scaly plaque on the left upper arm for five years [Figure 1]. There was no cervical or axillary lymphadenopathy. A skin punch biopsy was performed from the plaque.

DISCUSSION

Extramammary Paget disease is a rare intraepidermal adenocarcinoma that primarily affects apocrine gland-bearing skin most commonly over the anogenital area. When the disease affects nonapocrine bearing skin, it is called ectopic extramammary Paget disease.1 The pathophysiology of ectopic extramammary Paget disease is unknown. Sawada et al. reported the possibility that ectopic extramammary Paget disease originates potentially not only from the apocrine gland but also from the eccrine gland.2 Clinically and histologically, there is no difference between ectopic extramammary Paget disease and conventional one.2 Extramammary Paget disease is well known for its association with malignancy. Chanda reported the incidence of underlying adnexal carcinoma and concurrent internal malignancy associated with extramammary Paget disease as 24% and 12%, respectively.3 The location of the underlying internal malignancy appears to correlate with the site of extramammary Paget disease. For example, the perianal and perineal location is associated with adenocarcinoma of the digestive system and genitourinary malignancy, respectively.4

Till now, there have been 46 cases of ectopic extramammary Paget disease in literature, of which only two cases have been reported in association with internal malignancy. The first case is ectopic extramammary Paget disease of the lateral thigh arising in association with sweat gland carcinoma of the same area,5 the second being ectopic extramammary Paget disease in the midline of the abdomen with underlying colon adenocarcinoma.6

Whole-body evaluation for malignancy should be performed. For evaluation of internal neoplasm, positron emission tomography-computed tomography, upper and lower endoscopy and laboratory tests were recommended. However, the patient refused further testing.7

Extramammary Paget disease is clinically similar to Bowen disease and superficial basal cell carcinoma.8 Thus, clinicians should keep in mind the possibility of ectopic extramammary Paget disease when there is treatment resistance skin lesion with eczematous morphology on the apocrine gland poor regions.

The diagnosis of extramammary Paget disease, in this case, was supported by immunohistochemical findings. Pagetoid cells in pagetoid Bowen disease usually demonstrate immunohistochemical features of squamous cells, which are negative for CK7 and positive for P63.9 In this case, positivity for CK7 but negativity for p63 and Melan A supported the diagnosis of extramammary Paget disease, ruling out Bowen disease and melanoma in situ. A negative result of CK20 immunohistochemical stain supported the diagnosis of primary extramammary Paget disease rather than secondary extramammary Paget disease from an internal malignancy.9 This case has been reported as a rare case of ectopic extramammary Paget disease appearing on an unusual site.

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Co-occurrence of apocrine adenocarcinoma and invasive mammary-type ductal carcinoma in extramammary Paget disease of the axilla

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Co-occurrence of apocrine adenocarcinoma and invasive mammary-type ductal carcinoma in extramammary Paget disease of the axilla

Extramammary Paget disease (EMPD) is an uncommon malignancy that occurs in apocrine gland-rich areas of the body. EMPD of the axilla is rare, but a few cases have been reported. Some cases of EMPD have been reported with underlying apocrine adenocarcinoma; rarely, mammary-type ductal carcinoma can accompany EMPD. Here, we report a very rare case of EMPD with apocrine adenocarcinoma and invasive mammary-type ductal carcinoma.

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