Clinical and dermoscopic features of extramammary Paget's disease: A retrospective analysis of 49 cases.

BACKGROUND: Extramammary Paget's disease (EMPD) is a rare cutaneous malignancy that can be easily confused with other diseases due to its diverse clinical manifestations, delaying the timing of treatment. Therefore, early diagnosis is extremely important. It has been reported that dermoscopy can be used to evaluate superficial skin tumors. OBJECTIVE: To investigate the dermoscopic characteristics of EMPD diagnosed by histopathology and to develop a decision tree model that can provide clinicians with a reference to facilitate early diagnosis. METHODS: All patients were evaluated by dermoscopic and histopathologic examinations. Dermoscopic images were assessed, and a decision tree model was constructed using SPSS (version 25.0). RESULTS: A total of 49 patients were included in this study. We found that EMPD was most likely to be misdiagnosed when the disease duration was less than 2.5 years. Porcelain-white patches were the only key clinical feature other varying dermoscopic features could not be differentiated from those of EMPD-mimicking diseases. Polymorphic vessels were considered to be significant when the duration of the disease ranged from 0.1 year to 2.5 years. However, when the duration was >2.5 years, present (or absent) glomerular vessels were all considered EMPD. CONCLUSIONS: Dermoscopy can be used as an auxiliary diagnostic tool for the diagnosis and management of EMPD. The decision tree can guide clinical diagnosis further validation studies are necessary due to the limited number of cases.

Value of pseudopod sign on high-frequency ultrasound in predicting the pathological invasion of extramammary Paget's disease lesions.

BACKGROUND: Vertical invasion of extramammary Paget's disease (EMPD) is associated with poor prognosis. The usual vertical invasion route is directly downward or along the skin appendages. High-frequency ultrasound (HFUS) can be used to measure the EMPD lesion thickness, and visualize the pseudopod extensions due to skin appendage involvement. It is a non-invasive method for evaluating the extent of vertical invasion in EMPD. OBJECTIVE: To investigate the value of HFUS in predicting the extent of vertical invasion in EMPD. METHODS: In this retrospective study, 85 patients with EMPD were divided into two groups based on the pathology: invasive EMPD (iEMPD) group (n = 13) and in situ EMPD group (n = 72). The clinical and HFUS features of both the groups were analysed. The different types of pseudopodia morphology on HFUS were as follows: no pseudopodia, irregular bottom, small sphere, short strip, long strip, vase shape and nodular convex. These were further stratified into low-risk and high-risk levels. RESULTS: The clinical features were comparable between the two groups (P > 0.05). There were significant differences between the two groups in the HFUS features (lesion thickness, lesion shape, bottom shape, layer involvement, pseudopodia morphology and colour Doppler blood flow signal; all P < 0.05). The distribution of the pseudopodia morphology types in the in situ EMPD and iEMPD groups was as follows: no pseudopodia, 30/72 and 0/13; irregular bottom, 5/72 and 0/13; small sphere, 5/72 and 0/13; short strip, 21/72 and 0/13; long strip, 8/72 and 3/13; vase shape, 3/72 and 3/13; and nodular convex, 0/72 and 7/13 (P < 0.05 for all). The sensitivity and specificity of high-risk pseudopodia in identifying iEMPD were 100% and 84.7%, respectively. CONCLUSIONS: High-frequency ultrasound provides morphological information regarding EMPD lesions. Risk stratification for pseudopodia can help to distinguish between iEMPD and in situ EMPD lesions.

Evaluation of in vivo reflectance confocal microscopy in the diagnosis of extramammary Paget's disease.

Extramammary Paget's disease (EMPD) is a rare cutaneous malignancy that most commonly affects the apocrine glands of older men and women. Because it is associated with other cancers, early diagnosis and evaluation are needed. This study is to evaluate the value of reflectance confocal microscopy (RCM) in diagnosing EMPD. A total of 73 patients with clinically suspicious diagnosis of EMPD were enrolled in this study, and the RCM device imaged their lesions. Moreover, 67 patients underwent skin biopsies to confirm the diagnosis. We retrospectively analyzed the results of RCM and histological diagnosis and then evaluated the RCM value of biopsy-confirmed lesions. Based on the RCM image analysis, 54 of 73 (74.0%) patients were diagnosed with EMPD. Of all 67 biopsied lesions, 52 (77.6%) were EMPD. Then, we analyzed the RCM characteristics of 52 cases of biopsy-confirmed EMPD, compared their RCM image characteristics of three different lesions of EMPD, and further concluded the key points of EMPD under RCM microscopy based on the 52 EMPD cases. Finally, we focused on the differential diagnosis of EMPD from other skin diseases. RCM showed great diagnostic value in diagnosing EMPD.

High-Frequency Ultrasound for Evaluation of the Pathological Invasion Level of Extramammary Paget Disease.

OBJECTIVES: Pathological invasion level of extramammary Paget disease (EMPD) is strongly related with its risk staging, treatment, and prognosis. However, the current evaluation before treatments fails to evaluate pathological invasion level of EMPD. High-frequency ultrasound (HFUS) may play a key role to solve this problem. The purpose was to explore the performance of HFUS in the evaluation of pathological invasion level of EMPD. METHODS: Sixty pathologically proven EMPD patients were retrospectively enrolled and divided into 2 groups as follows: in situ in the epidermis (IE) (n = 42) and invasion into the dermis or subcutaneous (ID) (n = 18) groups. Clinical and HFUS features were compared between the 2 groups. RESULTS: Between the 2 groups, HFUS features (lesion shape, internal echogenicity and echotexture, surface shape, epidermal hyperechoic layer on the surface, the "pseudopod sign", and color Doppler ultrasound features) and clinical features were comparable (all P >.05). Tumor growth pattern significantly differed between the 2 groups (P <.05). Infiltration depth was significantly deeper for the ID group than the IE group (P <.05). With a cutoff value of 1.55 mm for infiltration depth, the area under the receiver operating characteristic curve was 0.833. CONCLUSIONS: HFUS features of tumor growth pattern and infiltration depth may contribute to the assessment of invasion level of EMPD.

68Ga-FAPI and 18F-FDG PET/CT in Perineum Extramammary Paget Disease.

ABSTRACT: Extramammary Paget disease is a rare skin intraepithelial adenocarcinoma. Our case presents 68Ga-fibroblast activation protein inhibitor and 18F-FDG PET/CT imaging in a patient with perineum extramammary Paget disease. Compared with 18F-FDG PET/CT, the primary tumor, enlarged pelvic lymph nodes and right maxillofacial lesion showed higher uptake in 68Ga-fibroblast activation protein inhibitor PET/CT.

Imaging Features of Extramammary Paget Disease of the Scrotum: A Case Report.

Extramammary Paget disease (EMPD) is a rare intraepithelial malignancy originating in areas rich in apocrine glands, such as the vulva, perineum, perianal area, scrotum, and penis. A few reports of EMPD involving the scrotum have been described in the literature. However, only few reports have described imaging features observed in patients presenting with EMPD. We report EMPD in a patient showing scrotal involvement, focusing on imaging features, particularly those determined ultrasonographically.

18F-FDG PET/CT in Metastatic Extramammary Paget's Disease.

Extramammary Paget's disease (EMPD) is a rare disease with an estimated prevalence of 0.1 to 2.4 per 1,000,000 person-years. Metastatic EMPD has a poor prognosis with a 5-year survival of approximately 7%. Local therapy is the only curative option with surgery being recommended for resectable disease. It is therefore crucial to be able to stage such patients appropriately. The utility of F-FDG PET/CT for this disease is not well established. We share a case on how F-FDG PET/CT was used to stage metastatic EMPD.

Ultrasound Biomicroscopy and High-Frequency Ultrasound for Evaluating Extramammary Paget Disease With Pathologic Correlation.

OBJECTIVES: The purpose of this study was to investigate the performance of ultrasound biomicroscopy (UBM) and high-frequency ultrasound (HFUS) in the assessment of extramammary Paget disease (EMPD) and to correlate the imaging features with pathologic findings. METHODS: In this retrospective study, we described the imaging features from UBM and HFUS based on 17 pathologically proven EMPD cases. The performance for visualizing layer involvement by UBM and HFUS was compared. Additionally, we checked the consistency between layer involvement of the lesions on UBM images and the pathologic results. Additionally, blood flow and the status of lymph nodes were investigated with HFUS. RESULTS: Ultrasound biomicroscopy revealed that all 17 lesions (100%) were hypoechoic and grew in a creeping form. The feature of layer involvement was shown in 10 lesions (58.8%) limited to the epidermis and 6 lesions (35.3%) involving the dermis, and the remaining lesion (5.9%) involved the full skin layers. Layer involvement was clearly displayed by UBM for all lesions (100%) but for only 5 lesions (29.4%) by HFUS (P < .001). Additionally, the layer involvement of 15 lesions (88.2%) on UBM was consistent with the pathologic results (κ = 0.746). High-frequency ultrasound revealed profuse blood flow in most lesions (64.7% [11 of 17]), and 1 case showed inguinal lymph node metastasis. CONCLUSIONS: Combined use of UBM and HFUS can provide key information on EMPD based on ultrasound features. Comparatively, UBM provides clearer morphologic information, whereas HFUS provides information on lymph node metastasis and blood flow.

[Extramammary Paget's disease can easily be overlooked].

Extramammary Pagets disease (EMPD) is a rare cancer and is often mistaken for benign dermatologic disorders such as eczema or psoriasis. The cancer is mostly primary but can be secondary to another cancer. EMPD is treated by surgical excision but a prolonged diagnostic process can have consequences for the patient due to spread of the primary tumour or growth and spread of the associated cancer. EMPD should be considered as a differential diagnosis in patients, who do not respond to local treatment of skin lesions. Since the cancer can be secondary to other cancers, patients should be assessed with a PET-CT scan.

ALA-PDT combined with holmium laser therapy of postoperative recurrent extramammary Paget's disease.

Extramammary Paget's disease (EMPD) is a rare intraepithelial neoplasm arising in apocrine rich area of the skin. Surgery is the standard treatment but relapse is common. The postoperative skin defects, penile reconstruction, functional effects and old age are also challenges for curing disease. Herein, a case of postoperative recurrent EMPD, which was treated by combination therapy of non-invasive repeatable ALA-PDT and deep penetrated holmium laser is reported. Ultrasonography monitor of lesions showed light vascularity and the formerly hypoechoic lesion disappeared after treatment.

Metastatic Extramammary Paget Disease of the Perianal Region.

A 72-year-old man with history of itching for 8 months presented with an ill-defined, ulcerated, eczematous, thickened cutaneous lesion in the left perianal region. F-FDG PET/CT was performed, and neoplastic skin thickening with FDG uptake was seen at the left gluteal cleft. Hypermetabolic inguinal, retroperitoneal, and mediastinal lymph nodes, liver, and bone metastases were seen. Histopathology and immunohistochemistry of the perianal growth and left inguinal lymph node were positive for cytokeratin7 and gross cystic disease fluid protein and negative for cytokeratin 20 and CDX2, confirming the diagnosis of primary extramammary Paget disease with metastases.

Successful treatment of metastatic extramammary Paget's disease with pemetrexed monotherapy systemically and 5-fluorouracil topically.

Advanced extramammary Paget's disease does not have a standardized treatment guideline as its incidence is low and has been rarely reported in literature. Here we describe a case of metastatic extramammary Paget's disease successfully treated with topical 5-fluorouracil (5-FU) and systemic pemetrexed. The therapy was safe without any appreciable adverse effects like diarrhea, rash, neutropenia or fatigue; maintaining remission for more than 6 months. Thus, we propose 5-FU and pemetrexed as the first-line therapy for advanced extramammary Paget's disease, especially for aged patients with unresectable skin lesions.

A review of non-invasive imaging in extramammary Paget's disease.

Extramammary Paget's Disease (EMPD) is a rare intraepithelial adenocarcinoma that classically manifests with pruritic, erythematous and scaling plaques. The clinical picture frequently mimics inflammatory or infectious conditions and is thus commonly misdiagnosed. The assessment of tumour margins is equally challenging as tumours have a propensity to spread beyond clinically visible boundaries. Appropriate non-invasive diagnostic tools can assist in the early detection, diagnosis and management of EMPD. This paper will review the literature on non-invasive imaging modalities used in EMPD. Articles from the PubMed database were selected based on relevance to the topic of this review. Articles that were not specific to EMPD and non-invasive imaging were excluded. Search strategy is further described in the methods section below. Eighteen articles were selected for this review: six PET/CT, five reflectance confocal microscopy (RCM), two photodynamic diagnosis (PDD), two dermoscopy, two MRI and one optical coherence tomography (OCT) paper(s). Dermoscopy, PDD, RCM and OCT can help to distinguish malignant conditions, including EMPD, from benign conditions. RCM and OCT can identify atypical cells in real-time, and have the potential to improve the accuracy of surgical margins intraoperatively and overall management. Distinctive confocal characteristics of EMPD have been described using RCM. The sensitivity and specificity of these findings require additional validation. Radiographic techniques also play a central role in the diagnosis of EMPD and assessment of disease spread. PET/CT and MRI can detect primary disease, nodal and distant metastases, with superior delineation of disease spread on MRI. Limitations of PET/CT are mainly related to primary tumour thickness, and size and FDG-avidity of nodal and distant metastases. Limitations of MRI include the fact that few studies have examined its use in EMPD; additional research is warranted. Randomized controlled trials and large prospective studies evaluating the use of non-invasive imaging in EMPD are needed.