bluuebunny/crossref_metadata_2025_split huggingface dataset:
Cutaneous Angiomyolipoma (Angiolipoleiomyoma): Case Report and Review of Literature with Emphasis on Nomenclature
Authors: Brudnik R , Shurbaji M S , Vellila R E 
Published: October 2021

Abstract

Introduction/Objective
Cutaneous angiomyolipomas (AML) are rare lesions that have morphological similarities to renal AML, but appear to be biologically distinct.

Methods/Case Report
We report the case of a 69-year-old man who presented with a slowly enlarging nodule on the dorsum of the right hand that was painful upon wrist flexion and is slightly tender to palpation. A ganglion cyst was clinically suspected, and the lesion was excised. Microscopically, this was a well-circumscribed nodule with a thin fibrous capsule that was highlighted by a trichrome stain. The lesion was composed of thick-walled blood vessels surrounded by bundles of smooth muscles that intermingled with adipose tissue. Smooth muscle actin immunostain highlighted the smooth muscles, but HMB-45 was negative. There was no atypia, and no mitoses. A diagnosis of “cutaneous angiomyolipoma” was made.

Results (if a Case Study enter NA)
NA

Conclusion
A review of the limited number of published cases showed that unlike renal AML, this lesion is not associated with tuberous sclerosis, is negative for melanocytic markers, and shows male-predominance, suggesting that the two morphologically similar lesions are biologically unrelated. The 2018 WHO classification of skin Tumors does not list this entity, so nomenclature is not standardized. Some authors suggested that these are simply angioleiomyomas with prominent adipose tissue, but the female predominance of angioleiomyoma makes this unlikely. Others have recognized this as a distinct entity and described it as an “angiolipoleiomyoma”, to distinguish it from renal AML. We now advocate for the latter approach to avoid confusion with renal AML. Otherwise, the prefix of “cutaneous” should always be used in the diagnosis to highlight this distinction.
Biphasic Sarcomatoid Sweat Gland Carcinoma With Ductal Epithelial And Spindled Myoepithelial Cell Components (Malignant Mixed Tumor Of Skin)
Authors: Chiu R , Tran T , Miranda-Taylor M , Bamdad S , Jia Y , Crabtree M , Cornford M , Yap C , Peng S 
Published: October 2021

Abstract

Introduction/Objective
Sweat gland carcinomas are a group of malignant skin adnexal tumors that are difficult to diagnose due to their rarity, wide morphologic variation, and limited literature on diagnosis and classification. These tumors may appear bland and morphologically resemble benign skin adnexal tumors, or may appear poorly differentiated and mimic metastatic carcinoma especially from a breast primary. Biphasic sweat gland carcinomas are an even rarer entity, with only few cases reported in literature, and have been described to consist of a well- differentiated ductal epithelial component and a poorly differentiated, sarcomatoid, spindle cell component.

Methods/Case Report
Our case report describes a 53 year old female referred to our institution for diagnosis of an excised skin lesion of the right upper arm, which had been slowly growing for 8 years. The histology revealed a biphasic malignant neoplasm involving the dermis and subcutis. The tumor consisted of an epithelial cell component with glandular and squamoid morphology and positive for CK5/6, CK7, and CAM5.2, and a spindled myoepithelial cell component with sarcomatoid morphology and positive for S100, vimentin, and p63. Stains for CK20, ER, PR, PAX8, CEA, and TTF1 were negative. The histological and clinical findings favored a primary skin adnexal tumor, rather than a metastatic lesion.
The patient underwent wide local excision of the lesion given that margins of the original excision were indeterminate. The histology of this re-excision demonstrated the same biphasic tumor with ductal epithelial and sarcomatoid myoepithelial cell components positive for the same stains. Although margins were negative in this re-excision, 3-4 months later, the patient developed dyspnea with multiple new pulmonary and hilar masses discovered on imaging, and new-onset headache with a frontal lobe mass discovered on brain imaging. These masses were biopsied/resected, and revealed to be metastases of the original cutaneous tumor positive for the same markers.

Results (if a Case Study enter NA)
NA

Conclusion
This case report describes a rare, diagnostically challenging case of a biphasic sweat gland carcinoma with ductal epithelial and sarcomatoid myoepithelial cell components, which demonstrated aggressive behavior with distant metastasis. These tumors are a clinicopathological quandary given their rarity and the paucity of literature on their characterization.
Immunohistochemistry Aids in the Diagnosis of Blastic Plasmacytoid Dendritic Cell Neoplasm in a Patient with Multiple Cutaneous Plaques and Nodules
Authors: Kaur H , Reyes-Barron C , Scott G 
Published: October 2021

Abstract

Introduction/Objective
Blastic Plasmacytoid Dendritic Cell Neoplasm (BPDCN) is a rare hematologic malignancy of plasmacytoid dendritic cell precursors with an estimated incidence of 0.04 cases per 100,000 in the US. Given the cutaneous tropism of BPDCN, it should be differentiated from other CD56+ hematopoietic neoplasms with skin involvement such as CD56+ AML, extranodal NK/T-cell lymphoma, and other T-cell lymphomas.

Methods/Case Report
A 71-year-old male presented to the emergency department with asymptomatic, pink- violaceous plaques/nodules on the trunk for 3 months. One month prior, a dermatologist diagnosed epidermal inclusion cysts that were left untreated. The nodules progressed and a course of steroids prescribed by a primary care physician provided short term improvement before the lesions flared again. Review of systems and vitals were normal. Biopsies of representative lesions sent for histologic examination showed a diffuse dermal infiltrate of small to medium atypical cells with irregular nuclear contours, fine chromatin, one to several nucleoli and scant cytoplasm. Immunohistochemistry showed these cells were positive for CD2, CD4, CD56 and CD45 with strong expression of BCL2 and focal CD123. The cells were negative for CD3, CD20, CD79a, CD8, CD30, ALK-1, MUM-1, CD10, Cyclin- D1, C-MYC, EBER, BCL6, Langerin, Granzyme, TIA1, CD68, CD163, MPO, and Lysozyme. The histology and immunoprofile were consistent with BPDCN. A bone marrow biopsy showed cells with similar morphology and staining pattern, including expression of CD123.Treatment with chemotherapy and Tagraxofusp, was initiated. Within a week, the patient showed near resolution of cutaneous lesions. Repeat bone marrow aspirate and flow cytometry a month later showed no malignant cells.

Results (if a Case Study enter NA)
NA

Conclusion
We present this case as a rare hematologic malignancy with a challenging clinical and histopathologic diagnosis. The histologic findings suggested either a high grade myeloid or lymphoid malignancy. The combination of CD3-/CD56+/CD4+/CD123+ in the lesional cells helped establish the diagnosis of BPDCN, allowing for prompt treatment.
A rare case of genital porokeratosis clinically misdiagnosed as lichen planus
Authors: Emechebe D , Mendoza R P , Heilman E 
Published: October 2021

Abstract

Introduction/Objective
Porokeratosis is a clonal disorder of keratinization characterized by atrophic patches surrounded by a histologically distinctive hyperkeratotic ridge-like border called the cornoid lamella. Porokeratosis occurring on the genital area is considered a rare entity and much more unusual when in isolated form

Methods/Case Report
This is a case of a 54-year old man who presented with a penile lesion that has been present for 10 years, unchanged, non-bleeding and non-pruritic. There was no history of genital ulcer or inguinal swelling, neither any history of sexual promiscuity. The patient has a history of basal cell carcinoma on the right nasal area managed with Mohs surgery and scalp actinic keratoses treated with liquid nitrogen. On examination, there was a solitary 6-mm red linear macule with collarette of white scale on the corona of the penis. There was no similar lesion seen on other body parts. His blood investigations, including venereal disease research laboratory test (VDRL) and HIV screening, were negative. The initial clinical diagnosis was lichen planus, and triamcinolone was administered for three months with minimal benefit. This failed steroid management prompted a shave biopsy

Results (if a Case Study enter NA)
Histologic sections showed a column of hyperkeratosis arising from the epidermis (cornoid lamella) with absent granular layer and dyskeratotic cells beneath the cornoid lamella, confirming the diagnosis of porokeratosis limited to the genitalia

Conclusion
Porokeratosis is considered a pre-malignant condition based on clonal proliferation, dyskeratotic cells, abnormal keratinocyte maturation and p53 overexpression. Malignant progression to Bowen’s disease and squamous cell carcinoma has been documented in 6.9 to 30% of cases.
An Uncommon Case of Colonic Neuroendocrine Carcinoma with Scalp Metastasis
Authors: Karimi S S , Braniecki M 
Published: October 2021

Abstract

Introduction/Objective
Neuroendocrine neoplasms of the colon account for &lt;1% of all colorectal malignancies. While visceral metastasis of neuroendocrine neoplasms is commonly observed, cutaneous distant metastasis has infrequently been reported and correlates with an advance stage and progression of disease. To our knowledge, there have been only 10 cases of neuroendocrine neoplasms with metastasis to the scalp reported in the literature. Herein, we report an unusual case of colonic neuroendocrine carcinoma with scalp metastasis, that can be microscopically indistinguishable from the highly aggressive cutaneous neuroendocrine carcinoma, Merkel Cell Carcinoma.

Methods/Case Report
A 47-year-old female with a history of ileocecal neuroendocrine carcinoma and status post right hemicolectomy had developed liver metastasis and subsequently had an orthotopic liver transplant. PET scan later revealed multiple areas of increased activity involving the ribs, scalp and cervical lymph node that were concerning for malignancy. The scalp lesion consisted of a 7mm non-tender, mobile, violaceous, erythematous dermal nodule that was clinically concerning for cutaneous metastasis. A skin punch biopsy microscopically revealed a subcutaneous infiltrate of nests composed of neoplastic monotonous blue cells with the classic nuclear “salt and pepper” chromatin and scant eosinophilic cytoplasm. The lesional cells showed positive immunoreactivity for synaptophysin and chromogranin. With the given patient’s clinical history and presentation, the observed histological findings and immunophenotypic expression of the tumor cells supported a diagnosis of metastatic neuroendocrine carcinoma.

Results (if a Case Study enter NA)
N/A

Conclusion
Metastatic neuroendocrine carcinoma to the scalp is a rare entity and is infrequently encountered in dermatopathology. Given the location and the gross appearance of the scalp lesion, a wide differential diagnosis would include both benign and malignant tumors. In particular, Merkel Cell Carcinoma can grossly and histologically mimic metastatic colonic neuroendocrine carcinoma. Both entities would show synaptophysin and chromogranin uptake. However, metastatic tumors originating from the colon will demontrate CDX2 and SATB2 nuclear staining. We share this rare case of metastatic colonic neuroendocrine carcinoma as it is an important differential diagnosis for primary cutaneous Merkel Cell Carcinoma.
Skin Involvement by Erdheim-Chester Disease; A Case Report
Authors: Meawad H , Bamdad S , Peng S 
Published: October 2021

Abstract

Introduction/Objective
Erdheim-Chester Disease (ECD) is considered one of the rare forms of non-Langerhans cell histiocytosis. It is caused by infiltration of different organs with lipid-laden histiocytes with foamy cytoplasm. Clinically, it can present as an indolent localized disease or a fatal disease with multi-organ failure.

Methods/Case Report
Here we report a case of fifty year-old female with a history of Erdheim Chester disease involvement of the left parietal lobe presented to the dermatology clinic with purpuric, tender maculopapular rash on bilateral cheeks, trunk, and bilateral upper extremities. Biopsy of the lesion on central chest revealed acute and chronic superficial dermal inflammation and skin crusting. The dermis is also infiltrated by many foamy lipid-laden macrophages. These macrophages stained with CD68 and CD163 and were S-100 and CD1a negative. BRAF V600E mutation was detected. Based on the immunophenotypic characteristics, as well as the molecular testing results and the clinical history of the patient, diagnosis of cutaneous involvement by Erdheim- Chester disease was made.

Results (if a Case Study enter NA)
NA

Conclusion
In summary, despite the fact that skin involvement by Erdheim- Chester disease is rare, it is imperative to consider it in the differential diagnosis of histiocytic diseases affecting the skin and differentiate it from its histologic mimickers. Molecular testing is a helpful tool in the diagnosis of Erdheim-Chester disease. Accurate diagnosis is crucial for guiding treatment plans.
Incidence and outcomes of primary cutaneous anaplastic large cell lymphoma: a SEER population-based study
Authors: Deb P Q , Hurley H J , Bhate C , Cai D 
Published: October 2021

Abstract

Introduction/Objective
Primary cutaneous anaplastic large cell lymphoma (PC-ALCL) is the second most type of cutaneous lymphoma of T cell origin. Although PC-ALCL is considered clinically indolent with an excellent overall survival rate, very few studies have examined the epidemiology and survival of this disease in significant depth. Here we have used the National Cancer Institute’s Surveillance, Epidemiology, and End Results (SEER) database to identify the cases of PC-ALCL with immunohistologic or molecular confirmation and analyzed disease-specific survival across various epidemiological factors.

Methods/Case Report
We identified patients with PC-ALCL from the SEER database from 1975 - 2017. Cases with only histological and immunohistochemical or molecular evidence of diagnosis were included in the study. Age, sex, and race-standardized incidence rates (IR) were calculated. Survival was assessed using Kaplan-Meier curves and Cox proportional hazards models.

Results (if a Case Study enter NA)
93 individuals were identified with a diagnosis of PC-ALCL. Increased age correlated significantly with the total number of cases within age groups, suggesting an associated risk. Males were significantly overrepresented in the disease population at 62%. The racial distribution of patients with PC-ALCL did not significantly differ from the racial distribution in the US. Kaplan-Meier DSS analysis was performed to assess possible influence of race, sex, age, or primary site location on the prognosis in patients with PC-ALCL. Age appears to be one of the greatest factors influencing survival, and while this trended strongly, it was not a statistically significant observation. Although males were disproportionately represented among PC-ALCL patients, sex did not affect survival. Similarly, the patient’s race had no significant effect on the length of survival. The location of the primary tumor trends towards affecting survival, and while this is quantitatively the most impressive observation, it does not reach the threshold of statistical significance.

Conclusion
We performed a comprehensive review of the clinical and epidemiological features present in PC-ALCL. We found age to be the most significant factor in the risk of development of PC-ALCL, and while our study lacks the statistical power to demonstrate it, age may also be the most significant factor in survival.
An Effective Approach for Endocrine Dynamic Function Tests Workflow and Reporting Using Cerner Millennium®
Authors: Asinas J M , Khaiwi W , Miller A , Newland P 
Published: October 2021

Abstract

Introduction/Objective
Endocrine dynamic function testing (DFT), also known as hormone stimulation tests, are indispensable tools in the endocrine practice. Common pitfalls of ineffective testing and misdiagnosis are due to incorrect sample recordings, delay in sample collections and disorganized or confusing result presentation. Clinical and laboratory data deserves careful attention and discrepancies must be reviewed by a clinical biochemist before releasing results for proper patient diagnosis. The main objective of this Cerner DFT project is to design and implement Cerner Millennium applications for effective management and organized result reporting of hospital-wide DFT protocols.

Methods/Case Report
The DFT Cerner workflow is uniquely designed in-house and known as a pioneer build for Cerner Millenium. The design involves the use of Cerner Discern Analytics 2.0 and clinical modules to complete such a complex build. Five DFT panels are defined as care-sets with specific hormone discrete task assays (DTA). For each care-set, an ‘order sentence’ is created to produce the order priority rules. The DFT panels can only be requested as future orders in PowerChart and activated by the medical staff upon collection of the baseline sample. On Cerner PathNet, results are pre-verified by the medical technologists then auto-filtered in the clinical Review Queue (RQ) module for final verification and addition of comments by the biochemistry consultant. A word processing template is used to collate the results and present the summary of the DFT report where standardized canned comments are added using pre-defined codes.

Results (if a Case Study enter NA)
See Conclusion Section

Conclusion
The Cerner DFT project mproves the diagnosis and treatment of patients with hormone disorders. Before, there was a danger of misdiagnosis when samples are individually requested producing separate reports with no organized presentation. Report comments from the clinical biochemist consultant also served as good diagnostic guidance. This quality initiative has definitely improved the previous and long term issues of endocrine dynamic function tests.
Parathyroid Hormone Related Peptide Elevations in Normocalcemic Adults
Authors: Freund R , Murphy V , Li D 
Published: October 2021

Abstract

Introduction/Objective
Elevated parathyroid hormone-related peptide (PTHrP) is a biomarker often associated with hypercalcemia of malignancy. However, elevations of PTHrP can be seen in non-malignant patients with normal calcium status, notably renal failure. We investigate whether a LC-MS/MS test that specifically measures a peptide in the middle region of PTHrP fragments is immune to false elevations of PTHrP. Furthermore, we examine if PTHrP/PTH ratio or renal status can be used to further characterize PTHrP elevations in a cohort of normocalcemic patients.

Methods/Case Report
We conducted a retrospective study on adult patients that had at least one PTHrP laboratory test (i.e., ARUP PTHrP by LC-MS/MS) within the past 10 years (01/01/2011 to 04/29/2021) at a large academic center. We further stratified this cohort by demographics and additional laboratory markers including calcium status, parathyroid hormone (PTH) (i.e., by Siemens Centaur assay (Malvern, PA)), renal status, and known malignancies.

Results (if a Case Study enter NA)
We identified a total of 941 patients (585 female and 356 male). 33% of patients (30% [70/233] female and 36% [84/236] male) with elevated PTHrP were normocalcemic (i.e., did not have an elevation in calcium, ionized calcium, or diagnosis of hypercalcemia). 95% (21/22) of normocalcemic males and 100% (17/17) of normocalcemic females with an elevated PTHrP and elevated PTH had a PTHrP/PTH ratio below the normal sex specific reference ranges of 1.07 and 1.86, respectively. A subset of normocalcemic patients with elevated PTHrP had an estimated glomerular filtration rate (eGFR) recorded. Of these patients, 100% (58/58) of females and 94% (65/59) of males had an eGFR below 90 mL/min/1.73 m2 had an eGFR less than 30 mL/min/1.73 m2. and 50% (29/58) of females and 38% (26/69) of males

Conclusion
Our study supports the hypothesis that elevated PTHrP in the setting of normal calcium may occur due to renal insufficiency.
Effect of Fasting and Postprandial Blood Samples in Results of Thyroid Function Tests Among Euthyroid People and Patients with Thyroid Problems: A Systematic Review and Meta-Analysis
Authors: Almuhaidib S A 
Published: October 2021

Abstract

Introduction/Objective
Thyroid disorders are considered to have a significant global health impact, affecting around 200 million people, and about 5% of all populations are diagnosed with hypothyroidism. Thyroid problems are mainly diagnosed by the laboratory’s thyroid function tests (TSH, FT4, and FT3), and currently, there is no special guideline for a preferred sample to test the thyroid functions.

Aim
To investigate whether using a fasting serum sample or postprandial serum sample could affect the results of the thyroid function tests in both euthyroid people and patients with thyroid problems.

Methods/Case Report
• A systematic search was done on PubMed, EMBASE, Google Scholar, Semantic Scholar, and manual searches with cross-referencing.
• PECOS framework was used for developing the research question.
• PRISMA guidelines used for the methodology.
• Two meta-analyses for TSH and FT4 were done based on the participant’s thyroid status, and one meta-analysis done for the FT3 for all.
• Statistical analyses were done using Revman5 software.

Results (if a Case Study enter NA)
• Ten full-text studies and three abstracts were included for the systematic review, and for meta-analysis, nine full-text studies and two abstracts.
• Based on the Cochrane rule of thumbs of the effect size interpretations, the meta-analyses result showed a statistically significant moderate effect for TSH mean differences; Mean of fasting blood sample &gt; mean of the postprandial sample.
• TSH effect for euthyroid people based on results of 9 studies from 641 participants (MD, 0.58; Fixed, 95% CI: [0.44 to 0.73], p. &lt;.00001).
• TSH results for all based on results of 11 studies from 921 participants (SMD, 0.46; Random, 95% CI: [0.31 to 0.61], p. &lt;.00001).
• No statistically significant effect for FT4 and FT3 mean differences results.
• Publication bias is suggested for TSH and FT3 results due to the asymmetrical appearance, but not for FT4.

Conclusion
• In conclusion, the use of fasting blood samples would have a significantly higher TSH result value compared to the postprandial blood samples. Hence, it may help introduce a new guideline to standardize the blood sampling status for the TSH test screening and diagnosis. Alternatively, different reference ranges depending on the sampling status might be suggested, which might help promote the patients’ quality of life and reduce healthcare costs.