scholarly journals Don’t Judge a Tumor by Its Biopsy!

2020 ◽  
Vol 12 (3) ◽  
pp. 266-274
Author(s):  
Mia Demant ◽  
Iselin Saltvig ◽  
Hannah Trøstrup ◽  
Volker J. Schmidt ◽  
Jørgen Hesselfeldt

Trichoblastomas (TBs) are extremely rare, benign hair germ tumors that can mimic basal cell carcinoma (BCC). They usually arise on the head or neck and have a potential for malignant transformation, albeit it is rare. We report a case of giant TB on the forehead of a 75-year-old otherwise healthy woman. Since the age of 20 she reported a bulge on her forehead, in which a superficial-looking wound had now developed. Initially a dermatologist biopsied the tumor suspecting a BCC, which the histological analyses confirmed. The patient was then referred to the Department of Plastic Surgery for complete excision of the carcinoma, including the large frontal bulge. Surprisingly, the concluding pathology report changed the diagnosis from a BCC to a TB. Current management of most skin lesions relies on the histopathological subtype of a single punch biopsy. Many benign and malignant dermatological entities may mimic BCC, and therefore misdiagnosis can lead to either unnecessary excision or delayed treatment of metastatic disease. Mimics may include various types of nonneoplastic processes, benign adnexal tumors, including TB, or cutaneous carcinomas with basaloid features. A single punch biopsy is not always adequate in making the correct diagnosis. Although it is considered the gold standard, the clinical assessment is just as important. Due to its potential for malignant transformation, it is recommended to excise TB with negative margins.

2021 ◽  
Vol 27 (1) ◽  
Author(s):  
Jeff John ◽  
Ken Kesner ◽  
John Lazarus

Abstract Background Squamous cell carcinoma (SCC) of the scrotum was the first malignancy known to be associated with exposure to an occupational carcinogen—in this case, soot trapped in the breeches of chimney sweeps. Better civil rules and regulations and the replacement of hearths with other forms of heating have rendered SCC of the scrotum a rarity. We report two cases of scrotal SCC with vastly differing clinical presentations and management. Case presentation Case 1 had T1 N0 M0 disease and presented with a small (< 2 cm), innocuous-looking, non-healing ulcer of eight years duration. A punch biopsy revealed a superficially invasive SCC confirmed on immunohistochemical profiling. A wide local excision of the lesion was subsequently performed. Follow-up at three years showed no signs of recurrence. Case 2 presented with T4 N1 M1 disease and rapidly progressing locally destructive mass. A punch biopsy of the scrotal lesion confirmed invasive moderately differentiated focally keratinising SCC. The metastatic evaluation confirmed the presence of metastatic, extensive para-aortic lymphadenopathy. He was managed with cisplatin-based chemoradiotherapy. Conclusion Early detection and management of patients with SCC of the scrotum are essential. If the diagnosis is delayed, treatment options become limited, and the prognosis is poor. Notwithstanding the rarity of this disease, multicentre trials are needed to provide more precise guidelines as to the optimal management of these patients.


2018 ◽  
Vol 2018 ◽  
pp. 1-8 ◽  
Author(s):  
Juan Pablo Sáenz ◽  
Mónica Paola Novoa ◽  
Darío Correal ◽  
Bell Raj Eapen

Background. The use of mobile applications in dermatology to support remote diagnosis is gaining acceptance, particularly in rural areas, where dermatology services are commonly managed by healthcare personnel with no specialty training. Moreover, ontologies—sets of concepts that represent knowledge in a given domain—are increasingly being used to support medical diagnosis. A specific case is ONTODerm: an ontology to aid dermatological diagnosis. However, there is little information on the combined use of mobile applications and ontologies as support solutions in dermatology. Objective. Assessing the reliability of ONTODerm as a tool to support remote dermatological diagnosis when used together with a mobile dermatological application in underprivileged areas. Methods. A mobile application that allows characterization of skin lesions was developed, and the information about the lesions was sent to ONTODerm. An exploratory study was conducted in a remote area without access to a dermatologist. A total of 64 dermatological queries were recorded in the application and consulted with ONTODerm. Later, an experienced dermatologist evaluated the characterization and diagnosis of each query to determine the accuracy of the system. Results. The results showed that the probability of obtaining a correct diagnosis was between 64.4% and 85.6% with a confidence interval of 95%. A higher accuracy rate was obtained when the skin lesion occurred on the face or when its border was categorized as poorly demarcated. Conclusions. This study demonstrates the implementation of a teledermatology strategy based on mobile applications and domain ontology-driven knowledge base to provide timely assistance to healthcare professionals. This approach was found to be pertinent in the Colombian rural context, particularly in forest regions, where dermatology specialists are not available. The results of this article do not represent a final validation of the proposed approach; they suggest how the ontology can be improved to effectively support medical staff in marginalized regions.


2019 ◽  
Vol 152 (Supplement_1) ◽  
pp. S51-S51
Author(s):  
Erika Egal ◽  
Welligton Sabino ◽  
João Scarini ◽  
Reydson Souza ◽  
Albina Altemani ◽  
...  

Abstract Introduction Pleomorphic adenoma (PA) is a benign lesion of the salivary glands that can suffer malignant transformation to carcinoma ex adenoma pleomorphic (CXPA). The pathogenesis of CXPA has been attributed to the accumulation of genetic disorders in preexisting PAs. However, there is no confirmation whether there is a common target gene involved in all histopathological subtypes or the decisive factors for malignant transformation in a histopathological subtype are specific. Objectives To further analyze genes found in PA and CXPA using the CGH-array technique. The genes found were analyzed using the InteractiVenn virtual tool (http://www.interactivenn.net/) and grouped into a Microsoft Excel worksheet. Results: Of the 460 genes amplified in the studied samples, 287 (62.4%) were related only to CXPA, whereas 144 (31.3%) were related to residual PA. Twenty-nine (6.3%) of these genes were common between residual PA and CXPA. Regarding the degree of invasion of CXPA, there was an increase in the number of genes amplified as the degree of invasion and aggression increased: 8 genes related to intracapsular CXPA, 65 to minimally invasive CXPA, and 373 to weakly invasive. Moreover, when comparing residual AP and intracapsular CXPA, two genes were common to these groups: ERRB2 and GRB7. As for the histological subtype, the high-grade samples had more amplifications (320 amplified genes) than the low-grade ones (129 genes). Three of these genes were common among residual PAs and CXPA: HMGA2, RPSAP52, and LOC100129940. As for the replicates, MYNC, ERBB2, BRIP1, and HMGA2 were the most repeated amplified genes in the residual PAs. HMGA2, ERRBB2, CDK12, RPSAP52, LOC100129940, and LOC100507250 were the genes with the most replicates in CXPA. Conclusion HMGA2, ERRB2, and RPSAP52 may play a key role in PA carcinogenesis, whereas GRB7, CDK12, MYNC, and BRIP1 appear to act as coadjutants.


2011 ◽  
Vol 135 (7) ◽  
pp. 847-852
Author(s):  
Francisco Bravo Puccio ◽  
Cesar Chian

Abstract Context.—Acral lentiginous melanoma is the most prevalent clinical presentation of melanoma in ethnic groups other than whites and also occurs in significant numbers in North America and Europe. Despite a clear-cut clinical picture, histologic findings seen in partial biopsies may be too subtle and deceive pathologists dealing with such cases. Objectives.—To make pathologists aware of the histologic findings during early phases of acral lentiginous melanoma (including the in situ phase), to compare those findings with what is seen in acral junctional nevus, and to highlight their similarities and differences. This review will also emphasize the important clinical and dermatoscopic findings to be considered when diagnosing acral lentiginous melanoma. Data Sources.—Review of published articles on the epidemiology; the clinical, dermatoscopic, and histopathologic findings; and the molecular biology of acral lentiginous melanoma as well as the personal experience of the authors when dealing with such cases. Conclusions.—Acral lentiginous melanoma is a clinicopathologic entity with a clear-cut clinical picture: a diameter larger than 0.7 mm; ill-defined, darkly pigmented, flat lesion with irregular borders on acral locations; and the presence of mostly single-cell proliferations of melanocytes along the dermo-epidermal junction. Along with a few additional criteria, these findings should be sufficient to allow the pathologist to make the diagnosis and to recommend complete excision. Fluent communication between clinician and pathologist will facilitate a correct diagnosis.


2018 ◽  
Vol 7 (7) ◽  
pp. 841-846
Author(s):  
Mamatha K. ◽  
◽  
S. Susmitha ◽  
Sathyashree K.V. ◽  
Rama Devi P. ◽  
...  

Dermatology is the study of the skin, hair, nails, and oral and genital mucus membranes and the diseases affecting them. It is predominantly an outpatient specialty. This chapter explains the common terminology used to describe skin lesions and dermatoses. The commonest conditions encountered in the dermatology clinic are described: eczema, psoriasis, pyoderma gangrenosum, skin cancers (basal cell skin cancer, squamous cell skin cancer, malignant melanoma), acne vulgaris and bullous disorders, in addition to dermatological manifestations of systemic disease such as vasculitis. Emergency presentations such as Stevens–Johnson syndrome/toxic epidermal necrolysis, anaphylaxis, and necrotizing fasciitis are outlined. A practical guide to common dermatological procedures such as punch biopsy, and a clinical approach to the dermatological patient are included.


2009 ◽  
Vol 75 (7) ◽  
pp. 610-614 ◽  
Author(s):  
Stephen R. Grobmyer ◽  
Jacquelyn A. Knapik ◽  
Robin M. Foss ◽  
Edward M. Copeland ◽  
Steven N. Hochwald

Nodular fasciitis (NF) typically presents as an enlarging soft tissue mass with imaging characteristics that may be suggestive of soft tissue sarcoma or desmoid tumor. This presentation can make a correct diagnosis and management of patients with NF a challenge. We report our recent experience with two cases of NF that were both referred with a diagnoses of “soft tissue sarcoma.” Patient 1 was a 46-year-old woman who had undergone breast augmentation and was referred with a rapidly growing firm mass on the left chest wall beneath the breast implant. Computed tomography of the chest noted the mass to be 8 cm X 11 cm in size displacing the implant laterally with no radiological involvement of the bony structures of the chest. Core biopsy was suggestive of inflammation only. Given the clinical suspicion of malignancy, the patient underwent resection of the mass with implant removal. Final pathology showed NF. Patient 2 was a 65-year-old woman referred with an enlarging tender 3-cm infraclavicular mass and a clinical diagnosis of “soft tissue sarcoma.” Preoperative biopsy suggested NF. The patient underwent complete excision, which confirmed the diagnosis. These cases highlight the clinical issues associated with management of patients with NF. Current approaches to evaluation, diagnosis, and treatment of NF are discussed.


2015 ◽  
Vol 5 (9) ◽  
pp. 727-732
Author(s):  
P Vijayan ◽  
R Nayak

Background: Adnexal skin tumors are relatively rare and present diagnostic difficulties in view of the endless morphological spectrum, complex nomenclature and incomplete knowledge of their histogenesis. Since pathologists encounter these lesions rarely, accurate sub classification of these can be challenging. This study intends to study skin adnexal tumors with eccrine and apocrine differentiation with emphasis on their histomorphology.Materials and Methods:The present study is a five year retrospective study with comprehensive analysis of 40 cases of adnexal tumors of skin in a tertiary center in Karnataka, South India. These tumors were reclassified and subtyped according to WHO classification of skin tumors, 2006.Results and analysis:Out the 62 cases of adnexal tumors studied, 40 were tumors with eccrine and apocrine differentiation (77% benign and 23% malignant). Hidradenoma was the most common tumor comprising 37% of all tumors and 45% of the benign tumors followed byspiradenoma, cylindroma and chondroidsyringoma respectively. Head and neck region was the most common site of occurrence, and seventh decade was the most frequent age group of presentation. A definite female preponderance was noted. Pagets disease of the breast was the most common malignant tumor in this group comprising (10%). Conclusion: Histopathology is considered the gold standard in the diagnosis of these tumors and so a clear knowledge of the clinical presentation and histomorphology of these tumors is essential to make a correct diagnosis. A diagnostic logarithm based on histomorphology provides a logical approach in the subclassification of adnexal tumors.DOI:


2020 ◽  
Vol 2020 ◽  
pp. 1-4
Author(s):  
E. Lüdke ◽  
G. Kohut ◽  
H. C. Bäcker ◽  
M. Maniglio

We report a case of a 21-year-old healthy woman with a history of a painful growing mass in the palm of the right hand, with a trigger finger phenomenon. The mass was surgically entirely excised, and the histological findings of the tumor were those of a fibroma of the tendon sheath (FTS) starting from the flexor tendons. Although the initial outcome was good, the patient experienced the same symptoms at the same location 4.5 years later. The MRI demonstrated a 50×10×5 mm mass of low intensity on T1-weighted images and high intensity on T2-weighted images and gadolinium enhancement. A second complete excision of the tumor was performed by the same senior surgeon, and the histology confirmed the recurrence of the FTS. We also reviewed the scientific literature about FTS in the hand. Most recent studies show a low rate or no recurrence at all. We hypothesize that a lot of recurrences are missed because of a short follow-up and that the recurrence rate may be higher than thought.


2017 ◽  
Vol 2017 ◽  
pp. 1-4
Author(s):  
Roisin Stack ◽  
Joseph McLoughlin ◽  
Amy Gillis ◽  
Barbara M. Ryan

A 45-year-old woman with suspected Functional Biliary Sphincter Disorder (FBSD) developed Clostridium perfringens related emphysematous cholecystitis after ERCP. A low index of suspicion for emphysematous cholecystitis in this young, otherwise healthy woman led to a significant delay in making the correct diagnosis, and air in the gallbladder was wrongly attributed to a possible gallbladder perforation. ERCP is associated with significant risks, particularly in patients with FBSD, where diagnostic uncertainty renders the balance of risk versus benefit even more critical. Post-ERCP emphysematous cholecystitis secondary to Clostridium perfringens is a rare but potentially fatal complication.


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