Cutaneous Syncytial Myoepithelioma: A Nondescript Skin Tumor With Serious Diagnostic Pitfalls

2019 ◽  
Vol 28 (1) ◽  
pp. 63-67
Author(s):  
Cameron Wales ◽  
Scott Diamond ◽  
Brian Hinds
Keyword(s):  
Gene Rearrangement ◽  
Clinical Presentation ◽  
Fibrous Histiocytoma ◽  
Epithelioid Sarcoma ◽  
Skin Tumor ◽  
Molecular Profile ◽  
Rare Tumor ◽  
Diagnostic Challenge ◽  
Diagnostic Pitfalls

Cutaneous syncytial myoepithelioma (CSM) is a rare tumor with a nondescript clinical presentation in the skin. It represents a relatively uncommon diagnostic entity with approximately 50 examples in the literature to date. We present a 36-year-old man with a new, tender 3-mm firm pink papule on the left bicep, in which a superficial shave technique produced a diagnostic challenge. CSM often poses a diagnostic quandary given shared histomorphological and immunohistochemical attributes with superficial mesenchymal or neurocristic tumors, namely, melanocytic proliferations, fibrous histiocytoma, and epithelioid sarcoma. The molecular profile of CSM may reveal EWSR1 or FUS gene rearrangement, but as we showcase, the diagnosis remains possible in the absence of this oncogenic fusion. Ultimately, there are pitfalls to avoid to correctly distinguish this benign myoepithelial lesion from more biologically aggressive neoplasia.

scholarly journals Inguinal ulcerated sebaceous carcinoma: an unusual presentation

2013 ◽  
Vol 88 (6 suppl 1) ◽  
pp. 48-51 ◽  
Author(s):  
David Oschilewski Lucares ◽  
Fred Bernardes Filho ◽  
Hernando Vega ◽  
Bernard Kawa Kac ◽  
Maria Rita Pereira ◽  
...  
Keyword(s):  
Male Patient ◽  
Clinical Manifestation ◽  
Clinical Presentation ◽  
Sebaceous Carcinoma ◽  
The Body ◽  
Skin Tumor ◽  
Diagnostic Challenge ◽  
Elderly Male ◽  
Genital Ulcers ◽  
Clinical Description

Sebaceous carcinoma is a rare and aggressive skin tumor. It can be located in any area of the body, the most commonly involved area being the periorbital region. It does not entail a typical clinical presentation, which explains the often late diagnosis. The aim of this report is to outline the rarity of the disease and its atypical clinical description, since to this day, inguinal ulcers with clinical manifestation have not been reported. We present and discuss a case of sebaceous carcinoma with an unusual clinical presentation, in an elderly male patient. The precise approach to genital ulcers, as shown in this case, is a diagnostic challenge that requires a great deal of effort on the part of the clinician.

Epithelioid Sarcoma Arising in a Long-Term Survivor of an Atypical Teratoid/Rhabdoid Tumor in a Patient With Rhabdoid Tumor Predisposition Syndrome

2021 ◽  
pp. 109352662098649
Author(s):  
Tiffany G Baker ◽  
Michael J Lyons ◽  
Lee Leddy ◽  
David M Parham ◽  
Cynthia T Welsh
Keyword(s):  
Epithelioid Sarcoma ◽  
Rhabdoid Tumor ◽  
Malignant Rhabdoid Tumor ◽  
Atypical Teratoid Rhabdoid Tumor ◽  
Diagnostic Challenge ◽  
Patient Demographics ◽  
Immunohistochemical Markers ◽  
Genetic Aberration ◽  
Atypical Teratoid ◽  
Rhabdoid Tumors

Rhabdoid tumor predisposition syndrome (RTPS) is defined as the presence of a SMARCB1 or SMARCA4 genetic aberration in a patient with malignant rhabdoid tumor. Patients with RTPS are more likely to present with synchronous or metachronous rhabdoid tumors. Based on the current state of rhabdoid tumor taxonomy, these diagnoses are based largely on patient demographics, anatomic location of disease, and immunohistochemistry, despite their nearly identical histologic and immunohistochemical profiles. Thus, the true distinction between such tumors remains a diagnostic challenge. Central nervous system atypical teratoid/rhabdoid tumor (AT/RT) is a rare, aggressive, primarily pediatric malignancy with variable histologic features and a well documented association with loss of SMARCB1 expression. Epithelioid sarcoma (ES) is a rare soft tissue tumor arising in patients of all ages and characteristically staining for both mesenchymal and epithelial immunohistochemical markers while usually demonstrating loss of SMARCB1 expression. To our knowledge we herein present the first documented case of a patient with RTPS who presented with metachronous AT/RT and ES.

scholarly journals Tuberculosis in Otorhinolaryngology: Clinical Presentation and Diagnostic Challenges

2011 ◽  
Vol 2011 ◽  
pp. 1-4 ◽  
Author(s):  
Rajiv C. Michael ◽  
Joy S. Michael
Keyword(s):  
Mycobacterium Tuberculosis ◽  
Pulmonary Tuberculosis ◽  
Clinical Presentation ◽  
Extrapulmonary Tuberculosis ◽  
Common Type ◽  
The Body ◽  
Diagnostic Challenge ◽  
Cervical Adenitis ◽  
Important Form

Tuberculosis affects all tissues of the body, although some more commonly than the others. Pulmonary tuberculosis is the most common type of tuberculosis accounting for approximately 80% of the tuberculosis cases. Tuberculosis of the otorhinolaryngeal region is one of the rarer forms of extrapulmonary tuberculosis but still poses a significant clinical and diagnostic challenge. Over three years, only five out of 121 patients suspected to have tuberculosis of the otorhinolaryngeal region (cervical adenitis excluded) hadMycobacterium tuberculosisculture-proven disease. Additional 7 had histology-proven tuberculosis. Only one patient had concomitant sputum-positive pulmonary tuberculosis. We look at the various clinical and laboratory aspects of tuberculosis of the otorhinolaryngeal region that would help to diagnose this uncommon but important form of extrapulmonary tuberculosis.

Intramuscular Tenosynovial Giant Cell Tumor Harboring a Novel CSF1-CD96 Fusion Transcript

2021 ◽  
pp. 106689692110498
Author(s):  
Haider Mejbel ◽  
Gene P. Siegal ◽  
Shi Wei
Keyword(s):  
Giant Cell Tumor ◽  
Giant Cell ◽  
Gene Rearrangement ◽  
Fusion Transcript ◽  
Cell Tumor ◽  
Molecular Profile ◽  
Small Subset ◽  
Fusion Partner ◽  
Giant Cell Tumors ◽  
Tenosynovial Giant Cell Tumor

Tenosynovial giant cell tumors typically arise in the synovium of joints, bursae, or tendon sheaths. They may occur in an intra- or extra-articular location and can be divided into localized and diffuse types. The neoplastic nature of the lesion has been supported by a recurrent CSF1 gene rearrangement in a small subset of lesional cells, of which the most common fusion partner is COL6A3. Herein, we report a case of intramuscular localized tenosynovial giant cell tumor harboring a novel CSF1-CD96 fusion transcript, thus expanding the molecular profile of this tumor.

scholarly journals Recent advancements in management of gastrointestinal tuberculosis

2018 ◽  
Vol 5 (9) ◽  
pp. 3730
Author(s):  
Basim F. Khan ◽  
Ahmed M. Basha ◽  
Bandar R. Bakhurji ◽  
Bader J. Aldossari ◽  
Abdulaziz S. Alsumaihi ◽  
...  
Keyword(s):  
Crohn’S Disease ◽  
Crohn's Disease ◽  
Good Accuracy ◽  
Clinical Presentation ◽  
Intestinal Tuberculosis ◽  
Scoring Systems ◽  
Abdominal Tuberculosis ◽  
Diagnostic Challenge ◽  
Important Concern ◽  
Diagnostic Modalities

Abdominal tuberculosis and its protean manifestations still create a worldwide diagnostic challenge for clinicians and remain an important concern in the developing world. Crohn’s disease, which is being increasingly recognized in countries where intestinal tuberculosis is prevalent, needs to be differentiated as the two diseases resemble each other in their clinical presentation, and in their radiological, endoscopic, and histological findings. New diagnostic modalities and scoring systems have facilitated the differentiation of Crohn’s disease from intestinal tuberculosis with good accuracy. Randomized trials have shown 6 months of therapy to be equivalent to longer durations of treatment for patients with abdominal tuberculosis. 

scholarly journals Peritoneal Dissemination from Malignant Fibrous Histiocytoma of the Buttock: Unusual Metastases from a Rare Tumor

Gut and Liver ◽  
2008 ◽  
Vol 2 (3) ◽  
pp. 213-215 ◽  
Author(s):  
Jung-Wan Yoo ◽  
Dae Ho Lee ◽  
Ho June Song ◽  
Jin-Hee Ahn ◽  
Sang-We Kim ◽  
...  
Keyword(s):  
Malignant Fibrous Histiocytoma ◽  
Peritoneal Dissemination ◽  
Fibrous Histiocytoma ◽  
Rare Tumor ◽  
Unusual Metastases

Review of Pineal Anlage Tumor With Divergent Histology

2006 ◽  
Vol 130 (8) ◽  
pp. 1233-1235
Author(s):  
Stephen Berns ◽  
Gary Pearl
Keyword(s):  
Clinical Presentation ◽  
World Health ◽  
Pineal Tumor ◽  
Rare Tumor ◽  
World Health Organization Classification ◽  
Nervous System Tumors ◽  
Diagnosis And Prognosis ◽  
Endodermal Differentiation ◽  
Health Organization

Abstract Pineal anlage tumor is an extremely rare tumor that is not listed in the 2000 World Health Organization Classification of nervous system tumors. It has been defined as a primary pineal tumor with both neuroepithelial and ectomesenchymal differentiation and without endodermal differentiation. We review the literature on this tumor, including the clinical presentation, gross pathology, histopathology, immunohistochemistry, differential diagnosis, and prognosis.

scholarly journals Measurement of cerebrospinal fluid ACE level in aseptic meningitis: diagnostic?

2019 ◽  
Vol 12 (8) ◽  
pp. e230532
Author(s):  
Biplab Kumar Saha ◽  
Aditi Saha ◽  
Scott Beegle
Keyword(s):  
Cerebrospinal Fluid ◽  
Complete Resolution ◽  
Clinical Presentation ◽  
African American Woman ◽  
American Woman ◽  
High Specificity ◽  
Systemic Steroid ◽  
Diagnostic Challenge ◽  
Systemic Steroid Therapy ◽  
Structural Brain

Neurosarcoidosis (NS) is a rare disease, affecting only 3%–10% of patients with sarcoidosis. The clinical presentation can be protean and often represents a diagnostic challenge. Cerebrospinal fluid (CSF) ACE level has poor sensitivity, but high specificity for establishing a diagnosis of NS. We present a case of NS in a middle-aged African American woman who presented with dysphagia and dysphonia. An extensive radiological workup was negative for structural brain disease. CSF studies demonstrated lymphocyte predominant pleocytosis with an elevated ACE level. A diagnosis of possible neurosarcoidosis was made. She responded to systemic steroid therapy with complete resolution of her symptoms over the next five months. In the appropriate clinical setting, an elevated CSF ACE level could be of paramount importance for making a diagnosis of NS.

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