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The American Journal of Dermatopathology Oct 2023Atypical fibroxanthoma (AFX) is a dermal-based, low-grade neoplasm with no specific lineage of differentiation. The occurrence of AFX with osteoclast-like giant cells is...
BACKGROUND
Atypical fibroxanthoma (AFX) is a dermal-based, low-grade neoplasm with no specific lineage of differentiation. The occurrence of AFX with osteoclast-like giant cells is exceptionally rare. Less than 20 cases have been reported in the literature.
CASE PRESENTATION
A 77-year-old man with a medical history of multiple basal and squamous cell carcinomas of the skin, presented with a progressively growing erythematous nodule on the sun-damaged right central parietal scalp. A shave biopsy showed a dermal spindle cell proliferation accompanied by numerous osteoclast-like multinucleated giant cells and predominant atypical mitotic figures. The immunohistochemical staining showed a diffuse positive staining for CD68 and SMA, patchy staining for CD10, and negative staining for SOX-10, pan-cytokeratin, CK5/6, S100, CD34, and desmin. The tumor was completely excised with negative margins. A subsequent follow-up over a period of 13 months showed no recurrence.
CONCLUSION
Distinguishing AFX with osteoclast-like giant cells from both malignant and benign skin lesions with osteoclast-like giant cells is crucial. Although AFX tumors display worrisome malignant histologic features, most cases have a favorable prognosis with a local recurrence rate below 5% and exceedingly rare metastasis.
Topics: Male; Humans; Aged; Osteoclasts; Skin Neoplasms; Skin; Giant Cells; Carcinoma, Squamous Cell
PubMed: 37708369
DOI: 10.1097/DAD.0000000000002508 -
The British Journal of Dermatology Nov 2023Ageing, disease and malignant transformation of the skin are associated with changes in DNA methylation. So far, mostly invasive methodologies such as biopsies have been...
BACKGROUND
Ageing, disease and malignant transformation of the skin are associated with changes in DNA methylation. So far, mostly invasive methodologies such as biopsies have been applied in collecting DNA methylation signatures. Tape stripping offers a noninvasive option for skin diagnostics. It enables the easy but robust capture of biologic material in large numbers of participants without the need for specialized medical personnel.
OBJECTIVES
To design and validate a methodology for noninvasive skin sample collection using tape stripping for subsequent DNA -methylation analysis.
METHODS
A total of 175 participants were recruited and provided tape-stripping samples from a sun-exposed area; 92 provided matched tape-stripping samples from a sun-protected area, and an additional 5 provided matched skin-shave biopsies from the same area. Using -enzymatic conversion and whole-genome Illumina sequencing, we generated genome-wide DNA methylation profiles that were used to evaluate the feasibility of noninvasive data acquisition, to compare with established sampling approaches and to investigate biomarker identification for age and ultraviolet (UV) exposure.
RESULTS
We found that tape-stripping samples showed strong concordance in their global DNA methylation landscapes to those of conventional invasive biopsies. Moreover, we showed sample reproducibility and consistent global methylation profiles in skin tape-stripping samples collected from different areas of the body. Using matched samples from sun-protected and sun-exposed areas of the body we were able to validate the capacity of our method to capture the effects of environmental changes and ageing in a cohort covering various ages, ethnicities and skin types. We found DNA methylation changes on the skin resulting from UV exposure and identified significant age-related hypermethylation of CpG islands, with a pronounced peak effect at 50-55 years of age, including methylation changes in well-described markers of ageing.
CONCLUSIONS
These data demonstrate the feasibility of using tape stripping combined with whole-genome sequencing as a noninvasive approach to measuring DNA methylation changes in the skin. In addition, they outline a viable experimental framework for the use of skin tape stripping, particularly when it is performed in large cohorts of patients to identify biomarkers of skin ageing, UV damage and, possibly, to track treatment response to therapeutic interventions.
Topics: Humans; Middle Aged; Epigenome; Reproducibility of Results; Skin; Biopsy; DNA Methylation
PubMed: 37658851
DOI: 10.1093/bjd/ljad316 -
The Journal of Dermatology Nov 2023Warts, caused by human papillomavirus (HPV) infection, have various clinical presentations, making them difficult to differentiate from clavus, callus, and sometimes,...
Warts, caused by human papillomavirus (HPV) infection, have various clinical presentations, making them difficult to differentiate from clavus, callus, and sometimes, squamous cell carcinoma. Although skin biopsies are the gold standard, a less-invasive method of examining these lesions is desired. Ninety patients with warts and related diseases, such as clavus and callus, were recruited to explore new differentiation methods using the surface of the warts. DNA was extracted from three types of specimens in each case: surface swab, shaved hyperkeratotic scale, and post-shaved surface swab. Total DNA was successfully extracted from these three specimens and was sufficient for subsequent HPV DNA detection. We analyzed samples for the HPV type and HPV viral load using polymerase chain reaction (PCR). Fifty-five cases were PCR-positive, and HPV1a, 2a, 4, 27, 57, and 65 were detected. The amount of HPV1a DNA produced was significantly greater than that of other HPV types. Regarding the correlation between the clinical diagnosis and HPV detection, the positive agreement rate was 90.9%, the negative agreement rate was 40.0%, and the overall agreement rate was 71.1%. Ten of the 21 cases clinically diagnosed as plantar warts were PCR-negative, especially in elderly patients. This suggests that it is difficult to distinguish plantar warts from clavus and callus in clinical practice. Although the amount of HPV DNA in the removed keratinization scale was highest for all HPV types, HPV detection by swabbing before and after shaving is also useful for follow-up as well as for differential diagnosis.
Topics: Humans; Aged; Papillomavirus Infections; Human Papillomavirus Viruses; DNA, Viral; Warts; Skin Neoplasms; Foot Diseases; Papillomaviridae
PubMed: 37622192
DOI: 10.1111/1346-8138.16920 -
European Journal of Radiology Oct 2023The purpose of this study was to evaluate if it is possible to completely remove small breast cancer tumours with vacuum-assisted excision (VAE) under ultrasound...
PURPOSE
The purpose of this study was to evaluate if it is possible to completely remove small breast cancer tumours with vacuum-assisted excision (VAE) under ultrasound guidance.
METHODS
Women ≥ 50 years old with a biopsy proven invasive cancer ≤ 10 mm were selected between October 2021 and November 2021 based on referrals and enrolled in this prospective study. The patients underwent VAE within six weeks following biopsy to remove the tumour. After the tumour was excised and the biopsy cavities margins were shaved, a radioactive seed was inserted into the biopsy cavity. The VAE excision cavity and surrounding tissue were surgically excised. Preliminary VAE results were evaluated after ten patients. For the study to proceed at least 80 % of the breast cancer tumours had to be completely removed by VAE.
RESULTS
The tumours median size in mammography was 8.5 mm (6-9 mm) and in ultrasound 6.5 mm (4-9 mm). The shape of the lesion was round in three (30 %), oval in two (20 %) and irregular in five (50 %) patients. None of the tumours were completely removed in the first VAE specimen, meaning that there was invasive cancer or ductal carcinoma in situ (DCIS) in the "shaved margins" and/or the surgical specimen. In five (50 %) cases, the surgical specimen was free of invasive cancer and DCIS.
CONCLUSIONS
None of the small invasive breast cancers were completely excised with VAE under ultrasound guidance, therefore it is not a reliable method to remove small breast cancers.
Topics: Female; Humans; Middle Aged; Breast Neoplasms; Carcinoma, Intraductal, Noninfiltrating; Prospective Studies; Mammography; Ultrasonography; Carcinoma, Ductal, Breast; Breast; Retrospective Studies
PubMed: 37611442
DOI: 10.1016/j.ejrad.2023.111049 -
Annals of Surgical Oncology Nov 2023Whether to sacrifice or spare the recurrent laryngeal nerve (RLN) when papillary thyroid carcinoma (PTC) involves a functioning RLN remains controversial. Oncological...
BACKGROUND
Whether to sacrifice or spare the recurrent laryngeal nerve (RLN) when papillary thyroid carcinoma (PTC) involves a functioning RLN remains controversial. Oncological outcomes after shaving PTC with gross remnant on the RLN have been rarely reported. The objective of this study was to evaluate the oncological outcomes of patients who underwent shaving of a PTC from the RLN, leaving a gross residual tumor with the intent of vocal function preservation.
METHODS
A retrospective, cohort study was conducted in 47 patients who were determined to have PTC invasion of the RLN via intraoperative inspection and underwent tumor shaving with macroscopic remnant (R2 resection) less than 1 cm in length and 4 mm in thickness. Median follow-up period was 93 (range, 60-215) months. The primary endpoint was the recurrence-free survival and the progression-free survival. Secondary endpoints were biochemical outcomes (serum thyroglobulin) and vocal cord function.
RESULTS
Of the 47 patients, five (10.6%) patients showed recurrence (central neck, 3; lateral neck, 2) without death or distant metastasis. The RLN was resected along with the tumor in one (2.1%) patient who presented with progression of the residual tumor. Postoperative temporary vocal cord paralysis occurred in six (12.8%) patients without permanent cases. The final nonstimulated serum thyroglobulin was 0.7 ± 1.8 ng/ml.
CONCLUSIONS
Shaving a tumor from a RLN with gross residual disease may be considered an alternative strategy to preserve vocal function when complete tumor resection with nerve preservation is impossible in patients with PTC invading a functioning RLN.
Topics: Humans; Thyroid Cancer, Papillary; Thyroglobulin; Thyroid Neoplasms; Retrospective Studies; Recurrent Laryngeal Nerve; Cohort Studies; Neoplasm, Residual; Carcinoma, Papillary; Thyroidectomy
PubMed: 37605083
DOI: 10.1245/s10434-023-14142-7 -
Cureus Jul 2023Background Exosomes are membrane-derived nanovesicles produced by cells and play an important role in intercellular communication. Objectives This study aimed to...
Background Exosomes are membrane-derived nanovesicles produced by cells and play an important role in intercellular communication. Objectives This study aimed to investigate the effects of garlic exosome (GE) on hair growth. Methods Forty-two Sprague-Dawley/Wistar albino rats were randomly divided into six groups: non-shaved control, shaved control, topical control, GE 2 mg, GE 4 mg, and topical GE. At the end of the experiment, the number of hair follicles, follicle diameter, and subcutaneous tissue thicknesses were measured histopathologically. The Wnt-1, β-catenin, platelet-derived growth factor (PDGF), vascular endothelial growth factor (VEGF), transforming growth factor-β1 (TGF-β1), and collagen I levels were measured by the Western Blot method. Results The anagen follicle counts of the GE 2 mg, 4 mg, and topical GE groups were 66.57±15.49, 105.71±25.06, and 55.29±6.72, and were significantly higher than the control groups (p<0.01, p<0.001 and p<0.05, respectively). The follicle diameter of the GE 4 mg group was higher than the others (p<0.05). The Wnt-1, PDGF, VEGF, TGF-β1, and collagen I levels of all GE groups, and the β-catenin levels of the GE 4 mg and topical GE groups were significantly higher than the control groups (p<0.05). Conclusion GE induces hair growth in rats via the Wnt-1, β-catenin, VEGF, PDGF, and TGF-β1 signaling pathways.
PubMed: 37602007
DOI: 10.7759/cureus.42142 -
European Annals of Otorhinolaryngology,... Jan 2024Granulomatous cheilitis is a rare disorder characterized by recurrent, idiopathic, and painless lip swelling. The diagnosis is proven by histopathological examination....
INTRODUCTION
Granulomatous cheilitis is a rare disorder characterized by recurrent, idiopathic, and painless lip swelling. The diagnosis is proven by histopathological examination. The unknown aetiology and poorly understood underlying mechanism contribute to the difficulty in establishing an effective treatment. This case study proposes the effectiveness of radiofrequency therapy in the management of refractory granulomatous cheilitis.
CASE SUMMARY
A 68-year-old patient presented with hypertrophy and swelling of the lower lip, and a biopsy revealed actinic cheilitis. The patient underwent lip shaving and an advancement mucosal flap, and definitive histologic examination confirmed the diagnosis of granulomatous cheilitis. No other signs of orofacial granulomatosis were observed, and the complementary aetiological study was negative for systemic disease. The lip swelling reappeared and persisted, which interfered with the quality of life. Hence, radiofrequency therapy was performed in the submucosal and subdermal layers of the lip, resulting in significant aesthetic and functional improvement and no further relapses after five years.
DISCUSSION
The management of granulomatous cheilitis is challenging. The current mainstay treatment is corticotherapy or reduction cheiloplasty in severe cases. Radiofrequency has potential as a treatment option in debilitating macrocheilia, presenting worthy long-lasting functional and aesthetical results, with minimal morbidity.
Topics: Humans; Aged; Melkersson-Rosenthal Syndrome; Quality of Life; Neoplasm Recurrence, Local; Cheilitis; Radiofrequency Therapy
PubMed: 37598063
DOI: 10.1016/j.anorl.2023.07.003 -
Dermatology Online Journal Jun 2023Smokeless tobacco keratosis is a benign lesion characterized by the formation of white, gray, or pale macules or papules with wrinkling or rugae. It forms in the oral...
Smokeless tobacco keratosis is a benign lesion characterized by the formation of white, gray, or pale macules or papules with wrinkling or rugae. It forms in the oral mucosa in response to the use of smokeless tobacco products. We present a 50-year-old man with an extensive history of smokeless tobacco use and development of the characteristic lesion. Shave biopsy showed typical changes of this benign condition and tobacco cessation was recommended.
Topics: Male; Humans; Middle Aged; Tobacco, Smokeless; Keratosis; Biopsy; Mouth Mucosa
PubMed: 37591270
DOI: 10.5070/D329361430 -
The American Journal of Dermatopathology Sep 2023GLI1 gene alterations (rearrangement or amplification) have been found in several bone and soft tissue tumors including pericytic tumors, gastric plexiform fibromyxoma,...
GLI1 gene alterations (rearrangement or amplification) have been found in several bone and soft tissue tumors including pericytic tumors, gastric plexiform fibromyxoma, gastroblastoma, and a various group of epithelioid tumors with regional recurrence or distant metastasis. In this article, we describe a case of primary cutaneous epithelioid mesenchymal tumor harboring hitherto not reported ATP2B4::GLI1 gene fusion. A 42-year-old man presented with a growing firm lesion on the left postauricular scalp. Microscopically, the shave biopsy specimen revealed a dermal-based nodular proliferation of relatively monotonous epithelioid cells with round to ovoid nuclei and pale eosinophilic cytoplasm, accompanied by prominent stromal vasculature. Significant cytologic atypia, necrosis, and mitotic activity were absent. The tumor cells were partially positive for CD34 and S-100 protein, but were negative for other markers, including SOX-10, keratins, and myogenic markers. An ATP2B4::GLI1 gene fusion was identified by next-generation sequencing. Array CGH was also performed, but it did not show relevant chromosomal copy number changes. Awareness of this rare cutaneous tumor, and thus, reporting of additional cases is necessary for further delineating its full clinicopathologic spectrum.
Topics: Male; Humans; Adult; Zinc Finger Protein GLI1; Skin Neoplasms; Soft Tissue Neoplasms; Gene Fusion; S100 Proteins; Biomarkers, Tumor; Plasma Membrane Calcium-Transporting ATPases
PubMed: 37506273
DOI: 10.1097/DAD.0000000000002497