Vulvar Swelling in a 12-Year-Old Girl: An Early Manifestation of Crohn’s Disease

Vulvar Crohn’s disease (VCD) is a rare complication of Crohn’s disease, especially in pediatric population. An early diagnosis can result difficult if the complication does not present in conjunction with the classic gastrointestinal symptoms that characterize this disease. In this study we present the case of a 12-year-old girl whose initial symptom of Crohn’s disease was a symptomatic vulvar swelling promoted by a rectovaginal fistula. We also provide an overview of Crohn’s disease and the vulvar changes found in the course of this disease.

Development a survival prediction model for patients with Paget disease of the breast based on the SEER database

Background:We explored the risk factors that affect the prognosis of patients with Paget disease of the breast(PD)and constructed a survival prediction model.Methods:The data of PD patients from 2004 to 2014 were collected through the SEER database.The factors affecting the prognosis of PD patients were analysed by a single factor,and the prediction model of the independent risk factor transformation model diagram that affected their 1-,3-,and 5-year survival rates was screened by multivariate Cox proportional hazard regression analysis coefficients.The consistency index was used to evaluate its predictive value,and its predictive performance was tested by the 1000 bootstrap method.Then,the calibration curve was used to verify the predictive performance of the model,and the receiver operating characteristic curve and decision curve analysis were used to assess the sensitivity and practicability of the model compared to the American Cancer Commission staging(AJCC)staging system.Results:The consistency index of the model was 0.795(95%confidence interval 0.773–0.818).The calibration curve shows good consistency,while the receiver operating characteristic curve shows the sensitivity of the model to predict the survival rate of PD at 1,3,and 5 years.Decision curve analysis confirmed that the nomogram can predict the survival rate of PD patients at 1,3,and 5 years instead of the traditional AJCC system.Conclusion:Regarding the independent prognostic factors of age,marital status,AJCC classification,surgery,radiotherapy,chemotherapy and marital status conversion in PD patients,the nomogram established in sequence has higher accuracy and clinical value than the traditional AJCC system.

Extramammary Paget’s Disease Manifested by Intraepithelial Adenocarcinoma of the Vulva and Anus Combined with Invasive Adenocarcinoma of the Ampullary Part of the Rectum

The Object of the Study: The author of the given paper describes an unusual combination of two diseases: extramammary Paget’s disease manifested by intraepithelial adenocarcinoma of the vulva and anus combined with invasive adenocarcinoma of the ampullary part of the rectum and describes the atypical manifestations of these diseases. The Content: The content of this research paper includes a description of the patient, an analysis of the clinical picture, diagnostic methods and therapeutic interventions used, a report of the following disease, and the result of the presented case. The Result of the Research Work: The result of the research work is the analysis of a clinical case with two different tumors, where such a combination of tumors is rarely described in the literature. Moreover, no large specific sample with this combination of diseases is available. Patient Characteristics: The given case report describes a patient of the Palliative Care Unit of the Gerontology Clinic with a primary diagnosis of C20-rectal adenocarcinoma in the background of the anal canal, perineal skin Paget’s disease, stage IV. The presented complications of the patient’s primary diagnosis are multiple metastases in the liver;status post palliative chemotherapy;hepatomegaly;metastases to abdominal lymph nodes, inguinal lymph nodes;metastases at Th12, L4 level;pain syndrome. The presented above combination of diagnosed diseases is very rare. Applied Diagnostics: In October 2021, it was performed diagnostic manipulation: biopsy and the pathologist have provided a microscopic description. The first tissue fragment had a pronounced electrothermal lesion and the epithelial structures were not valuable. The second skin tissue fragment was covered with hyperplastic and acanthotic epithelium;its basal and middle layers contained multiple large cells proliferates extending into the medial epidermis, and the cytoplasm of these cells reacted positively with PAS (Periodic Acid Schiff reaction). It needs to be noted that the patient had previously had several years of biopsies from the perineal and anal epidermis, where Paget’s disease had also been diagnosed. The performed immunohistochemistry showed these cells to be CK20 positive, CK7 rare positive and p16 negative. The following pathohistological findings were made: morphological and immunohistochemical picture is consistent with Paget’s disease. According to the ICD-10, the patient was diagnosed with C51 malignant neoplasm of the female external genitalia. Using imaging diagnostics, it became clear that the patient’s rectal adenocarcinoma had progressed to metastatic stage with distant liver metastases in the background of anal canal, perineal skin Paget’s disease. Therapeutic Plan of the Patient: Based on the patient’s main diagnoses, the complications of the principal diagnosis, the patient’s overall severe condition, pain syndrome, age and comorbidities, palliative chemotherapy was approved as a therapeutic option in council of doctors. Monitoring and Outcome of the Patient: The patient’s general condition was becoming worse over time, and she was diagnosed with exitus latalis in December 2022. At that time, the patient was discharged from hospital and was on palliative care at home under the control of her family physician.

Retrospective analysis of perianal Paget's disease with underlying anorectal carcinoma

AIM:To analyze clinical and pathological characteristics of an aggressive subtype of perianal Paget's disease(PPD) and explore its rational treatment modalities.METHODS:PPD patients were retrospectively collected in the institutional colorectal database of the Fudan University Shanghai Cancer Center.Detailed patient histories of past medical condition,diagnosis,treatment,and pathological findings were reviewed.Surgical specimen from diagnosis and surgery were reviewed by two independent pathologists for confirmation of diagnoses.Follow up was accomplished by clinical interview by cellphone.RESULTS:In total,eight cases of PPD were analyzed.All patients had underlying anorectal adenocarcinoma,including seven with synchronous lesions and one with metachronous lesions.Moreover,all anorectal lesions had a mucin-producing component.The median age at diagnosis was 65(range 29-81 years),and the male/female ratio was 7:1.The Median follow-up time of all patients was 61.5 mo(range 10-204 mo).One patient treated with abdominoperineal resection(APR) died from lung metastases 10 mo after the APR operation.The other patients are still free of disease at the time of this analysis.CONCLUSION:PPD is a rare malignancy and is easily misdiagnosed.Underlying anorectal cancer was not unusual and was a significant prognostic factor.Rational treatment of both anorectal cancer and PPD lesion is essential for long-term survival.

Extramammary Paget’s disease: Updates in the workup and management

Objective:Extramammary Paget’s disease(EMPD)is a rare cutaneous malignant disease.Due to its rarity,there is a paucity of data regarding best treatment strategy.EMPD primarily affects apocrine gland-bearing skin areas such as the vulva,scrotum,and penis.Our objective was to provide a present-day rationale for diagnosis,pathogenesis,and treatment of EMPD with a focus on recent progress in workup and management of the disease.Methods:Literature on EMPD until February 2022 was assessed through PubMed,MEDLINE databases,and Google scholar.A narrative review of the most relevant articles was provided.Results:EMPD usually presents with indolent growth while usually being diagnosed primarily as carcinoma in situ.The foundation of EMPD treatment centers around prompt and accurate diagnosis,wide local or Mohs micrographic surgical excision with proper management towards the margin status,and careful consideration for lymphadenectomy in patients with regionally positive disease.Conventional chemotherapies are alternative treatments modality for patients with distant metastases;however,they sometimes have suboptimal efficacy.At present,there is no agreement regarding adjuvant or systemic therapies,although recent studies have shown several insights into the molecular pathogenesis,tumor biology,and genomics of the development and advancement of EMPD,which may lead to novel and targeted treatment approaches for metastatic EMPD in the future.Conclusion:Patients with EMPD should seek care from physicians with expertise in disease management and patient counseling.These patients should be surveilled with close follow-up to evaluate them for disease recurrence or progression.Global collaborations with groups such as the Global Society for Rare Genitourinary Tumors,and especially patient support groups are crucial in designing clinical trials to help elucidate more robust data in this orphan disease.

Paget’s disease of bone: Report of 11 cases

BACKGROUND Paget’s disease of bone(PDB)is a rare metabolic bone disease in China and is characterized by increased bone resorption and disorganized bone formation.The main clinical symptoms of PDB are focal or multiple bone pain and deformity with high disability.The disease has high missed diagnosis and misdiagnosis rates.This report summarizes the clinical manifestations,imaging and pathological features,and treatments of 11 patients with PDB at our hospital from 1993 to 2020 in order to improve the recognition and prognosis of PDB.CASE SUMMARY There were eight male and three female patients whose average age was 48.7±11.0 years with a PDB course of 1-16 years.Nine patients had bone pain and bone deformities in different parts of the body,the majority of which involved the long bones.Laboratory examinations revealed elevated serum alkaline phosphatase(ALP)in all patients with an average of 618±460 IU/L(normal range 0-130 IU/L),and serum calcium and phosphorus levels were in the normal range.Imageology showed that osteolysis was usually combined with osteosclerosis and/or bone deformities in single or multiple bones.^(99m)Tc-methylene diphosphonate bone scintigraphy revealed increased radionuclide uptake in the bone lesions.Six patients underwent bone tissue biopsy,and the typical pathological changes were a mosaic structure of the bone trabeculae with irregularly arranged cement lines and multinuclear osteoclasts.Ten of the 11 patients were effectively treated with bisphosphonates.CONCLUSION Early diagnosis of the rare disease PDB can be made through elevated ALP levels and typical presentations on bone X-ray and from bone tissue biopsy.

Photodynamic Therapy for Extramammary Paget's Disease:5 Cases Report

Objective： To study the therapeutic effect of photodynamic therapy for extramammary Paget＇s disease. Methods： DIOMED 630 nm diode laser was used as light source and photofrin as photosensitizer. The patient＇s lesion was irradiated for 24-72 h after administrating of photofrin. The power density was 100-150 mW/cm^2 and energy density was 150-300J/cm^2. Dosage of photofrin was 2 mg/kg. Results： Lesion darkened 24 h after irradiation and formed a scar 96-120 h after irradiation. One patient＇s lesion disappeared, three patients＇ lesion diminished apparently and one patient＇s lesion was not controlled 3 months later. Conclusion： Photodynamic therapy is an effective modality for extramammary Paget＇s disease.

Total knee arthroplasty in patients with Paget's disease of bone: A systematic review

AIM To determine the functional outcomes, complications and revision rates following total knee arthroplasty(TKA) in patients with Paget's disease of bone(PDB). METHODS A systematic review of the literature was performed. Four studies with a total of 54 TKAs were included for analysis. Functional outcomes, pain scores, complications and revision rates were assessed. The mean age was 72.0 years and the mean follow-up was 7.5 years.RESULTS All studies reported significant improvement in knee function and pain scores following TKA. There were 2 cases of aseptic loosening, with one patient requiring revision of the femoral component 10 years after the index procedure. Malalignment, bone loss, soft tissue contractures were the most commonly reported intraoperative challenges. There were five cases(9%) that were complicated by intra-operative patellar tendon avulsion.CONCLUSION The findings support the use of TKA in patients with PDB. The post-operative functional outcomes are largely similar to other patients, however there are specific perioperative challenges that have been highlighted, in particular the high risk for patellar tendon avulsion.

Total hip arthroplasty in patients with Paget's disease of bone: A systematic review

AIM To investigate the clinical and functional outcomes following total hip arthroplasty(THA) in patients with Paget's disease.METHODS We carried out a systematic review of the literature to determine the functional outcome, complications and revision rates of THA in patients with Paget's disease. Eight studies involving 358 hips were reviewed. The mean age was 70.4 years and follow-up was 8.3 years. There were 247 cemented THAs(69%), 105 uncemented THAs(29%) and 6 hybrid THAs(2%). RESULTS All studies reported significant improvement in hip function following THA. There were 19 cases of aseptic loosening(5%) at a mean of 8.6 years. Three cases occurred in the uncemented cohort(3%) at a mean of 15.3 years and 16 cases developed in the cemented group(6%) at a mean of 7.5 years(P = 0.2052). There were 27 revisions in the 358 cases(8%) occurring at a mean of 7 years. Six revisions occurred in the uncemented cohort(6%) at a mean of 8.6 years and 21 in the cemented cohort(9%) at a mean of 6.5 years(P = 0.5117). CONCLUSION The findings support the use of THA in patients with Paget's disease hip arthropathy. The post-operative functional outcome is largely similar to other patients; however, the revision rate is higher with aseptic loosening being the most common reason for revision. Uncemented implants appear to be associated with a lower failure rate, however, there were no modern stem designs fixed using current generation cementing techniques used in the reported studies, and as such, caution is advised when drawing any conclusions.

An autopsy case of metastatic extramammary Paget’s disease treated with multimodality treatment including anti-HER2 therapy: What is the clinical and pathological significance of trastuzumab to the patient?

Advanced Extramammary Paget’s disease (AEMPD) shows a poor prognosis despite multimodality therapy. In recent years, it is suggested that anti-HER2 therapy may be promising for HER2-positive AEMPD. We herein present an autopsy case of a patient with AEMPD treated with multimodality treatment including anti-HER2 therapy. A 78-year-old man who diagnosed with AEMPD died after surgery and systemic chemotherapy including anti-HER2 therapy (trastuzumab). The metastatic skin lesions were immnohistologically HER2-positive. While the patients were administrated trastuzumab plus taxan (docetaxel, and paclitaxel) regimen, the metastatic skin lesion decreased, however, brain metastases were found in his brain and trastuzumab is discontinued. The skin metastasis rapidly spread over his body, leading to weakness, and he eventually died. At autopsy, the lesions of EMPD were extended distant organs including brain, although each metastasis was small and asymptomatic. The wide lesion of skin metastasis was exacerbated after discontinuation of trastuzumab, and transudate was observed due to the extensive necrosis and erosion. Our autopsy findings showed one progressive pattern of AEMPD, and indicated what is the clinical and pathological significance of anti HER2 therapy for HER2-positive AEMPD.

Extramammary Paget’s Disease Covered the Left Nipple and Areola

We present a case of a 71-year-old woman suffering from mammary Paget,s disease and having a 10-years history of an irregular, widespread erosion accompanied by itching and burning on the skin of her left chest, extending to the breast. The erosion had steadily enlarged and had become increasingly tender. The nipple and areola of the left breast disappeared and could not be recognized. No abnormality of the right nipple, areola, and covering skin and no supernumerary nipple were seen. Mammography and ultrasonography could not be performed because of severe pain and erosive wetness. Histopathology of a surgical biopsy specimen showed epidermal infiltration by large, round, clear atypical cells scattered individually or in small clusters and distributed horizontally throughout the epidermis. The cytoplasm of these large cells was pale and vacuolated and was equivalent to that in nipple cells in Paget,s disease, and a diagnosis of mammary Paget,s disease was made. We performed total mastectomy of the left breast with wide excision of the Paget lesion of the left chest and axillary lymph node sampling. Histological examination of the specimen showed typical distribution of Paget,s cells;however no ductal carcinoma in situ was found in the mammary ducts and invasive growth was not recognized beyond the basal membrane of the lesion. From this evidences, we established a diagnosis of large, irregulaly shaped unusual mammary Paget,s disease, not of breast cancer origin, covering the left breast, areola, and nipple.

Paget's Disease is Associated with Eleven Cancerous Regions:a Case Report and Therapeutic Strategy

Paget＇s disease of the breast is an uncommon disorder that accounts＇for 1% to 3% of all mammary tumors. The incidence of underlying carcinoma associated with Paget＇s disease has been reported in 82% to 100% of cases. The finding of underlying carcinoma reaches almost 100% when a palpable lump is also present. In this rare case, we described a patient presenting with Paget＇s disease but no palpable lump. However, we found 11 independent regions which were all invasive ductal carcinoma after the operation. Considering this patient, we should pay more attention to a multifocal and multicentric breast carcinoma associated with Paget＇s disease. Furthermore, we believe the mammography examination and a modified radical mastectomy are the most appropriate treatments for this population in clinical practice.

CLINICAL ANALYSIS AND TREATMENT OF 14 CASES OF EXTRAMAMMARY PAGET'S DISEASE

Objective To diffrentiate extramammary Paget’s disease (EPD) clinically and histologically from other skin diseases. Methods Clinical analysis and excisional treatment of 14 patients with EPD were reviewed from 1987 to 1997. Results of 14 patients, 12 involved scrotum and penis, one in the groin and the other one in the syrianal region. All were positive for cytokeratin and negative for S-100 protein. Follow-up showed 3 recurrences who had positive surgical margin biopsy. One died of other diSease. Conclusion Surgery is the first choice for treatment of EPD. Negative margin must he achieved to prevent local recurrence.

The Disturbance of Melanogenesis and Melanosome Transfer in the Leukoderma Lesions of Extramammary Paget’s Disease

We frequently encounter characteristic color variation including hypopigmentation, hyperpigmentation, and erythema in extramammary Paget’s disease (EMPD) lesions. Owing to unclear hypopigmentation, the lesional border of EMPD can be poorly defined and it is likely insufficient to perform its complete resection. Although the existence of Toker’s cells and lack of lesional bFGF production have been reported to cause hypopigmentation inside of EMPD lesions, exact mechanisms of hypopigmentation in EMPD are not fully explored. We experienced three EMPD patients with obviously hypopigmented EMPD macules and histopathologically confirmed a reduced number of melanocytes on the hypopigmented macules and their loss on the erythematous plaques or nodules. An ultrastructural analysis on the hypopigmented lesions revealed disturbance of melanosome maturation and melanosome transfer to the adherent Pagets’ cell on the basal layer. No Paget’s cells even adhered to remaining melanocytes with dendrites contained matured melanosome and a few number of matured melanosome complexes were observed in basal keratinocytes. In the present study, we hypothesize that severe disturbance of not only melanogenesis but also melanosome transfer to surrounding Paget’s cells and basal keratinocytes may cause characteristic hypopigmentation in EMPD. Future bioanalysis would reveal molecular mechanisms for hypopigmentation in EMPD.

外阴Paget's病8例临床分析

背景与目的:外阴Pagets病(VulvarPagetsdisease,VP)是一种罕见疾病,其误诊率较高,且治疗上仍存在争议。本研究的目的是总结外阴Pagets病的临床特点及治疗经验,以提高对该病的认识和治愈率。方法:回顾性分析1964年1月至2001年12月我中心诊治的8例外阴Pagets病患者的临床资料。结果:8例患者的中位年龄66.5岁,起病至确诊的中位时间为5年。病理分类以上皮内Pagets病为主(5/8),其次为浸润性Pagets病(2/8)和Pagets病伴发腺癌(1/8)。8例患者共行10次手术,主要术式为外阴广泛切除术(6/10)。随访中1例Pagets病伴发腺癌患者死于肿瘤,1例上皮内Pagets病患者死于其它病因,5例长期无瘤生存,1例复发。结论:外阴Pagets病治疗以手术为首选,对病变广泛、高龄、随诊条件差者选择外阴广泛切除术,较少出现复发。

外阴Paget′s病临床分析

目的研究外阴Paget's病的诊断、病理、治疗和预后.方法回顾性总结和分析1960年～2002年期间在中国医科院肿瘤医院治疗的7例外阴Paget's病,病例的症状、病变部位、病理、治疗方法以及随诊情况.结果7例Paget's病患者平均年龄67.3岁(54～81岁);外阴病变和瘙痒是主要的症状,从最初症状到确诊平均时间3.4年.所有患者初治均为手术治疗,2例行外阴单纯切除术,5例行外阴根治术.术后病理:2例浸润到真皮层;4例合并上皮下腺癌.复发5例,距初治时间平均为16.2个月,其中4例行放疗或化疗,另1例未治.平均随访时间41.1个月.3例死亡,均为浸润性病变或合并上皮下腺癌.结论外阴Paget's病患者的诊断较困难,手术是主要的治疗方法,外阴Paget's病易复发,有浸润性病变或伴上皮下腺癌者预后差.

Mohs显微手术治疗乳房外Paget病42例

目的:评价Mohs治疗乳房外Paget病的疗效。方法:42例乳房外Paget病患者沿皮损周围2 cm行Mohs手术切除,确认边缘结果阴性之后行皮瓣或植皮闭合。术后31例患者使用光动力,每周1次,共4次。11例外用咪喹莫特乳膏,每日1次,共半年,随访8~36个月。结果:6例患者复发,复发率14.3%,其中4例为术后光动力治疗患者,2例为术后外用咪喹莫特乳膏。结论:EMPD进行Mohs显微描记手术结合光动力治疗或外用咪喹莫特乳膏有效。

乳腺外Paget′s病的诊治附——21例报告及文献复习

目的 探讨乳腺外Paget′s病的诊治方案及其注意事项。方法 分析 2 1例乳腺外Paget′s病的临床资料、诊治经过及随访结果。结果 2 1例均经病理检查证实。 18例获随访 ,其中 3例手术后 1年复发 ;2例术后 2～ 3年死于广泛转移 ;2例术后 5年死于其他疾病 ;11例 5年无复发。结论 本病易诊为湿疹等 ,对难治性湿疹样改变应早期活检 。

乳腺Paget's病的临床研究

目的探讨乳腺派杰氏病的临床与病理特点。方法对经手术和病理证实的乳腺派杰氏病10例,从临床表现与病理等方面加以分析。结果乳腺派杰氏病在乳腺癌中的发生率为0.8%,发病年龄39-60岁,平均49.7岁,病史1-120个月,乳头糜烂是最常见临床表现,治疗采取以手术为主的综合治疗,清扫腋窝淋巴结6-13枚,平均9枚,淋巴结转移1例(2/13枚)。结论乳腺派杰氏病作为特殊类型乳腺癌,发病率低,误诊率高,早期诊断和治疗可获得长期生存。

误诊为乳房外Paget病的阴茎基底细胞癌1例

报告1例阴茎基底细胞癌误诊为乳房外Paget病。患者男,83岁,阴茎根部斑块、结节伴瘙痒9年,加重伴破溃3年。皮肤科检查:阴茎根部左侧可见一约4.5 cm×2.5 cm暗红色斑块,其上见散在结节及较厚黄褐色痂壳附着。下腹部、腹股沟、阴囊见大片红斑及绿豆至黄豆大暗红色丘疹,部分皮疹上见点状糜烂,覆淡黄色鳞屑。临床诊断:乳房外Paget病。皮损组织病理检查:真皮内见大量嗜碱性肿瘤细胞团块,部分与表皮相连,肿瘤细胞核大深染,在团块边缘排列呈栅栏状,外周有收缩间隙。最终诊断:基底细胞癌。手术切除斑块后,行3次光动力治疗。随访至今20个月,未见复发。