8,473 results match your criteria Paget Disease


A peculiar case of Paget's disease of the breast.

Ann Ital Chir 2022 May 5;11. Epub 2022 May 5.

Mammary Paget's disease is a disorder of the nipple-areola complex of the breast that, while rare, is often associated with an underlying carcinoma. The typical aspect is usually an eczematoid change of the nipple or a red and ulcerative nipple's lesion or erythematous and crusted lesion, with or without mass-like lesion and infiltration and inversion of the nipple. It was described at first by Sir James Paget in 1874, [1] who classified the disease in mammary and extramammary type. Read More

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Interdisciplinary Management of Extramammary Paget's Disease using Mohs Micrographic Surgery with Frozen Section Cytokeratin-7 Immunostains.

Urology 2022 May 10. Epub 2022 May 10.

Department of Dermatology, Mayo Clinic; Rochester, MN. Electronic address:

Objectives: To describe local recurrence rates and patient reported outcomes when Mohs micrographic surgery with cytokeratin-7 immunostains (MMS-CK7) is included in the interdisciplinary management of extramammary Paget's Disease (EMPD).

Methods: A retrospective study was conducted of EMPD treated with MMS-CK7 as part of an interdisciplinary team at an academic medical center between 2009 and 2016. Local recurrence rates and patient-reported outcomes were determined by record review and patient surveys. Read More

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A novel missense HNRNPA1 variant in the PY-NLS domain in a patient with late-onset distal myopathy.

Neuromuscul Disord 2022 Mar 31. Epub 2022 Mar 31.

Department of Neurology, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA. Electronic address:

Pathogenic HNRNPA1 variants underlying myopathy have been reported only in the prion-like domain of the heterogenous nuclear ribonucleoproteins A1, while two variants in the nuclear localization (PY-NLS) domain were described in ALS. Here we report a 61-year-old man who presented with 1-year history of bilateral foot drop without Paget disease or dementia. Examination revealed severe asymmetric distal weakness, predominantly affecting tibialis anterior and toe extensors. Read More

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Extramammary Paget's disease: Harbinger of internal malignancy.

Aust J Gen Pract 2022 May;51(5):351-352

MBBS (Hons), MMed (ClinEpi), FACD, Consultant Dermatologist, Department of Dermatology, Liverpool Hospital, Liverpool, NSW; Ingham Institute of Applied Medical Sciences, Liverpool, NSW; University of NSW, Sydney, NSW.

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Uremic Leontiasis Ossea in a Pediatric Patient.

Cureus 2022 Mar 23;14(3):e23428. Epub 2022 Mar 23.

Radiology, Buraidah Central Hospital., Buraidah, SAU.

Uremic leontiasis ossea (ULO) is a rare disease characterized by extensive thickening of the cranium, resulting in a characteristic, lion-like facial appearance. It is considered the most severe osseous complication of renal dystrophy. Although rare, ULO can occur even in young patients, which can be catastrophic, as it can not only lead to life-threatening conditions but also multiple complications that cause severe determent to the quality of life. Read More

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Extramammary Paget disease of the axilla and scrotum in a Caucasian man.

JAAD Case Rep 2022 May 22;23:87-89. Epub 2022 Mar 22.

Departments of Dermatology, Mayo Clinic, Jacksonville, Florida.

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The Paget Trial: topical 5% imiquimod cream for noninvasive vulvar Paget disease.

Am J Obstet Gynecol 2022 Apr 18. Epub 2022 Apr 18.

Department of Obstetrics and Gynaecology, Radboud University Medical Centre, Nijmegen, The Netherlands.

Background: Vulvar Paget disease is an extremely rare skin disorder, which is most common in postmenopausal women. Most vulvar Paget disease cases are noninvasive; however, it may be invasive or associated with an underlying vulvar or distant adenocarcinoma. The current treatment of choice for noninvasive vulvar Paget disease is wide local excision, which is challenging because of extensive intraepithelial spread and may cause severe morbidity. Read More

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Efficacy of trastuzumab in HER-2-positive advanced extramammary Paget's disease.

Expert Opin Biol Ther 2022 05 16;22(5):673-674. Epub 2022 Apr 16.

Department of Dermatology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.

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The Cure VCP Scientific Conference 2021: Molecular and clinical insights into neurodegeneration and myopathy linked to multisystem proteinopathy-1 (MSP-1).

Neurobiol Dis 2022 Jul 8;169:105722. Epub 2022 Apr 8.

Department of Developmental Molecular and Chemical Biology, Tufts University School of Medicine, Boston, MA, United States of America. Electronic address:

The 2021 VCP Scientific Conference took place virtually from September 9-10, 2021. This conference, planned and organized by the nonprofit patient advocacy group Cure VCP Disease, Inc. (https://www. Read More

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Rectal Phenotype of Perianal Paget Disease: Rare Concomitant Phenomena.

Cancer Diagn Progn 2021 Nov-Dec;1(5):387-392. Epub 2021 Nov 3.

Department of Anatomic Pathology, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.

Aim: Classically, 'Paget disease' refers to a distinct histological pattern in breast carcinoma. Here, we review the clinicopathological features of anorectal adenocarcinoma with 'pagetoid' spread.

Materials And Methods: Histological and immunohistochemical records for 11 cases of anorectal adenocarcinoma with pagetoid spread among 958 Japanese patients with primary rectal/anal carcinoma were reviewed. Read More

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November 2021

Paget's disease of bone presenting with multiple cranial nerve palsies: A case report.

Radiol Case Rep 2022 Jun 4;17(6):1870-1873. Epub 2022 Apr 4.

Department of Neurology, Mohammed V Military Instruction Hospital, Rabat Morocco.

Paget's disease of bone (PDB) is a progressive monostotic or polyostotic osteopathy with unknown cause. It is associated with the involvement of the nervous system. The cranial nerves, spinal roots, cauda equina, spinal cord, and brain can be affected in PDB due to their close anatomical relation to bone. Read More

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Mammary Paget Disease With Melanocytic Proliferation Mimicking Malignant Melanoma : A Case Report.

Front Med (Lausanne) 2022 21;9:839954. Epub 2022 Mar 21.

Department of Dermatology, Xiangya Hospital, Central South University, Changsha, China.

Several cases of pigmented mammary Paget's disease (PMPD) mimicking cutaneous malignant melanoma have been reported. In these cases, the tumor cells are colonized by melanocytes, particularly with the presence of a population of melanocytes staining for HMB-45 and S100. Here, we report a case of mammary Paget disease (MPD) which was misdiagnosed as melanoma due to the interpretation of the staining of melanocytic markers S-100, Melan-A, and HMB-45. Read More

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Axillary masses as clinical manifestations of male sweat gland carcinoma associated with extramammary Paget's disease and accessory breast carcinoma: two cases report and literature review.

World J Surg Oncol 2022 Apr 4;20(1):109. Epub 2022 Apr 4.

Chongqing Key Laboratory of Translational Research for Cancer Metastasis and Individualized Treatment, Chongqing University Cancer Hospital, Chongqing, 400030, China.

Background: Male cases of accessory breast carcinoma and sweat gland carcinoma associated with extramammary Paget's disease of the axilla are uncommon. In clinical diagnosis and treatment, it is necessary to determine the disease carefully and make a reasonable treatment strategy according to the patient's situation.

Case Presentation: We described two male cases of the special tumor with an axillary mass as the first clinical symptom, one of which was diagnosed as accessory breast cancer and the other as sweat gland cancer associated with extramammary Paget's disease. Read More

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Current Management and Treatment of Extramammary Paget's Disease.

Curr Treat Options Oncol 2022 Jun 4;23(6):818-830. Epub 2022 Apr 4.

Department of Dermatology, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka, 812-8582, Japan.

Opinion Statement: Extramammary Paget's disease (EMPD) is a rare neoplastic disease affecting areas rich in apocrine glands in the elderly. EMPD clinically resembles a benign inflammatory skin disease, and ill-defined tumor borders can lead to misdiagnosis and incomplete excision. Several prognostic factors have been reported, including nodule formation, tumor thickness, tumor invasion, lymphovascular invasion, and a perianal location, which are characteristic of primary tumors. Read More

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PDD-guided tumor excision combined with photodynamic therapy in patients with extramammary Paget's disease.

Photodiagnosis Photodyn Ther 2022 Mar 31:102841. Epub 2022 Mar 31.

Department of Plastic & Cosmetic Surgery, Daping Hospital, Army Medical University, Chongqing 400042, PR China. Electronic address:

Background: In recent years, photodynamic diagnosis (PDD) has been a technique that plays a pivotal role in visualizing tumor size during the assessment of surgery. Photodynamic therapy (PDT) is a developing treatment method apart from surgery, chemotherapy, radiotherapy, and immunotherapy and is approved for several types of tumors and nonmalignant diseases. The purpose of this study was to illustrate the efficiency and safety of PDD-guided tumor excision combined with ALA-PDT in patients with extramammary Paget's disease (EMPD). Read More

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Clinical Characteristics and Pathogenic Gene Identification in Chinese Patients With Paget's Disease of Bone.

Front Endocrinol (Lausanne) 2022 9;13:850462. Epub 2022 Mar 9.

Shanghai Clinical Research Center of Bone Disease, Department of Osteoporosis and Bone Diseases, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai, China.

Objective: To evaluate the clinical features of sporadic Paget's disease of bone (PDB) in China and further explore the underlying genetic abnormalities of the disease.

Methods: Clinical characteristics, biochemical indices, bone turnover markers and radiographic examinations of the patients were collected. Genomic DNA was extracted from peripheral blood and whole-exome sequencing was carried out to identify the potential pathogenic genes. Read More

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Ectopic extramammary Paget's disease of the abdominal wall with abdominoplasty reconstruction.

BMJ Case Rep 2022 Mar 29;15(3). Epub 2022 Mar 29.

Plastic and Reconstructive Surgery, Royal Free Hospital, London, UK.

Ectopic extramammary Paget's disease describes an exceedingly rare intraepithelial adenocarcinoma arising within non-apocrine tissues. We present a case report of E-EPMD arising on the lower abdomen without underlying secondary malignancy in a 56-year-old female patient. We performed a wide local excision of the lesion with subsequent mini abdominoplasty reconstruction. Read More

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A rare breast cancer in a patient with pierced nipples.

Authors:
Raquel Barreto

JAAPA 2022 Apr;35(4):35-38

Raquel Barreto practices in surgical oncology at Memorial Sloan Kettering Cancer Center's ambulatory surgical center in Monmouth, N.J. The author has disclosed no potential conflicts of interest, financial or otherwise.

Abstract: Paget disease of the breast is a rare form of breast cancer that affects the nipple and areolar complex. Clinicians should have a high suspicion for this condition in patients who fail conservative treatment for benign-appearing dermatologic findings regardless of age or sex. This article describes a patient with whose presumed nipple infection was initially thought to be related to her nipple piercing. Read More

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On the association between Chiari malformation type 1, bone mineral density and bone related genes.

Bone Rep 2022 Jun 15;16:101181. Epub 2022 Mar 15.

Department of Genetics, Microbiology and Statistics, Faculty of Biology, Universitat de Barcelona, CIBERER, IBUB, IRSJD, Barcelona, Spain.

Background: Chiari malformation type 1 (C1M) is a neurological disease characterized by herniation of the cerebellar tonsils below the foramen magnum. Cranial bone constriction is suspected to be its main cause. To date, genes related to bone development (e. Read More

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Severe cardiomyopathy associated with the VCP p.R155C and c.177_187del MYBPC3 gene variants.

Eur J Med Genet 2022 Mar 16;65(6):104480. Epub 2022 Mar 16.

Division of Genetics and Genomic Medicine, Department of Pediatrics, University of California, Irvine, CA, USA; Department of Neurology, Department of Pathology, University of California, Irvine, CA, USA. Electronic address:

Inclusion Body Myopathy, Paget's Disease of Bone, with Frontotemporal Dementia is a progressive autosomal dominant disease that affects the ubiquitin-proteasome complex, that is caused by variants in the Valosin Containing Protein (VCP) gene. We report the first case of concurrent pathogenic variants in both MYBPC3 and VCP that led to earlier onset of congestive heart failure with features of dilated cardiomyopathy. Cardiomyopathy has previously been associated with VCP inclusion body myopathy mostly at an advanced stage of the disease. Read More

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A RIETE registry analysis of patients with upper extremity deep vein thrombosis and thoracic outlet syndrome.

Thromb Res 2022 May 4;213:65-70. Epub 2022 Jan 4.

Department of Internal Medicine, Hospital Germans Trias i Pujol, Badalona, Barcelona, Spain; Chair for the Study of Thromboembolic Disease, Faculty of Health Sciences, UCAM - Universidad Católica San Antonio de Murcia, Universidad Autónoma de Barcelona, Spain.

Background: Upper extremity deep vein thrombosis (UEDVT) related to thoracic outlet syndrome (TOS) is rare, and the literature is limited to institutional case series.

Methods: We used data from the RIETE Registry to compare outcomes (recurrences, major bleeding and signs and symptoms of post-thrombotic [PTS] syndrome) in patients with UEDVT and TOS undergoing first rib resection vs. those not undergoing surgery. Read More

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Invasive and non-invasive extramammary perianal Paget's disease: Understanding of carcinogenesis determines individualized treatment.

Cir Esp (Engl Ed) 2022 03;100(3):175-177

General and Digestive Surgery Department, Colorectal Surgery Unit, Donostia University Hospital, Biodonostia Research Institute, Beguiristain Doktorea Pasealekua s/n, 20014 Donostia-San Sebastián, Spain.

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F-fluorocholine uptake in Paget's disease in two patients with prostate cancer.

Rev Esp Med Nucl Imagen Mol (Engl Ed) 2022 Mar-Apr;41(2):108-109. Epub 2021 Mar 16.

Servicio de Medicina Nuclear, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.

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A cohort study of the relationship between anaemia, mean corpuscular volume and mortality among a CKD population in South Africa.

Afr Health Sci 2021 Dec;21(4):1764-1775

Department of Internal Medicine, School of Clinical Medicine, Faculty of Health Science, University of the Witwatersrand, Johannesburg, South Africa.

Background: The burden of chronic kidney disease is increasing globally and prompt identification, coupled with improved management of CKD patients have increased the population of pre-dialysis patients. We, therefore, aimed to evaluate the predictors of survival among pre-dialysis CKD patients in South Africa.

Methods: We conducted a cohort study of 256 consecutive consenting Black non-dialysis requiring CKD patients attending the renal outpatient clinic of a tertiary Hospital in South Africa from 1st June 2016 to 1st December 2016. Read More

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December 2021

Assessment of Extramammary Paget Disease by Two-Photon Microscopy.

Front Med (Lausanne) 2022 25;9:839786. Epub 2022 Feb 25.

Center for Microscopy-Microanalysis and Information Processing, University Politehnica of Bucharest, Bucharest, Romania.

Two-photon microscopy techniques are non-linear optical imaging methods which are gaining momentum in the investigation of fixed tissue sections, fresh tissue or even for experiments. Two-photon excited fluorescence and second harmonic generation are two non-linear optical contrast mechanisms which can be simultaneously used for offering complementary information on the tissue architecture. While the former can originate from endogenous autofluorescence sources (e. Read More

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February 2022

Penile Extramammary Paget disease associated with urothelial carcinoma in situ: Case report and literature review.

J Cutan Pathol 2022 Mar 11. Epub 2022 Mar 11.

Laboratory Medicine Program, University Health Network and Princess Margaret Cancer Center, Toronto, Ontario, Canada.

Background: Extramammary Paget disease (EMPD) is an uncommon disease affecting older men and women. Clinically, it appears as a plaque lesion with an erythematous or leukoplakic background in regions with abundant apocrine glands such as female external genitalia, perineum, scrotum, and penis.

Methods: We are presenting an 85-year-old patient with recurrent erythematous plaque lesions involving the penis and known to have urothelial carcinoma (UC) in situ of the bladder. Read More

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CK 8∕18: the key to differentiating intracutaneous lesions with pagetoid features.

Rom J Morphol Embryol 2021 Jul-Sep;62(3):757-763

Department of Pathophysiology, George Emil Palade University of Medicine, Pharmacy, Science and Technology of Târgu Mureş, Romania;

Introduction: Neoplasms with pagetoid features are a category of rare lesions defined by the presence of atypical cells at different levels of the epidermis. The most important diseases within this category are mammary Paget disease (MPD), extramammary Paget disease (EMPD), Bowen's disease, in situ melanoma, and pagetoid reticulosis.

Aim: The aim of this analysis was to describe the importance of the cytokeratin 8∕18 (CK 8∕18) immunostaining in diagnosing MPD and EMPD and differentiating them from other lesions. Read More

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Intertumor and intratumor heterogeneity of PIK3CA mutations in extramammary Paget's disease.

J Dermatol 2022 May 6;49(5):508-514. Epub 2022 Mar 6.

Department of Dermatology and Plastic Surgery, Faculty of Life Sciences, Kumamoto University, Kumamoto, Japan.

Although the prognosis of patients with extramammary Paget's disease (EMPD) treated with radical resection is good, the prognosis of EMPD with distant metastasis is very poor. PIK3CA mutations predict a good response to PIK3CA inhibitors. The aim of this study was to investigate the occurrence rate of PIK3CA mutations (including multiple mutations [MM]) related to the intertumor and intratumor heterogeneity in EMPD and to evaluate the correlation between these mutations and clinical parameters of EMPD. Read More

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Paget's disease of bone and megaloblastic anemia in a 72-year-old patient: A case report and systematic literature review.

Exp Ther Med 2022 Apr 8;23(4):269. Epub 2022 Feb 8.

Department of Geriatrics and Gerontology, 'St. Apostle Andrei' Clinical Emergency County Hospital, 800578 Galați, Romania.

Paget's disease of bone (PDB) is characterized by abnormal osteoclastic bone resorption with disorganized bone neo-formation, primarily affecting elderly (>55 years) patients. Although the majority of patients are asymptomatic, some patients may experience bone pain due to local periosteal involvement or osteoarthritic lesions in the spine; in addition, limb deformities may lead to secondary gait problems or degenerative joint changes. Anemia has an overall prevalence of 12-17% in elderly adults (>65 years old), with macrocytic anemia being the less common type. Read More

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Vulval extra-mammary Paget's disease: the master of disguise revealed.

Br J Hosp Med (Lond) 2022 Feb 10;83(2):1-12. Epub 2022 Feb 10.

Department of Gynaecology Oncology, The Royal Wolverhampton NHS Trust, Wolverhampton, UK.

Extra-mammary Paget's disease is a rare cancer affecting the anogenital region and can present with a myriad of symptoms. In women, the diagnosis of Paget's disease can be challenging as it mimics several other vulval conditions. It is important to promptly recognise this disease because of its potential association with synchronous tumours, such as colorectal adenocarcinoma. Read More

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February 2022