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Background@#Direct immunofluorescence (DIF) is a histochemical technique used to detect tissue-bound autoantibodies and diagnose various immune-mediated skin diseases. @*Objective@#This study aimed to evaluate the sensitivity of DIF for each disorder, and the consistency between clinical, histopathological, and DIF results. @*Methods@#A retrospective study was conducted in 194 patients who underwent skin biopsy and DIF testing at our hospital between January 2011 and December 2021. An antibody panel against immunoglobulin G (IgG), IgA, IgM, C3, C1q, and fibrinogen was used. The concordance rate and κ-coefficient between the clinical, histopathological, and DIF results were evaluated. @*Results@#DIF was observed to be positive in 87 cases; 51 cases of immune-mediated bullous diseases, seven cases of connective tissue diseases (CTDs), 25 cases of vasculitis, and four cases of other diseases. The overall sensitivity of DIF for immune-mediated bullous diseases was 71.8%, which was higher than that of histopathology (64.8%). In CTDs and vasculitis, the overall sensitivities of DIF were 30.4% and 65.8%, respectively, which were lower than those of histopathology (73.9% and 84.2%, respectively). In addition, good concordance among the clinical, histological, and DIF results was observed. @*Conclusion@#DIF is a useful diagnostic method, especially for immune-mediated bullous diseases, lupus erythematosus, and Henoch-Schonlein purpura. However, in other CTDs and vasculitis cases, the sensitivity of DIF is relatively low. Therefore, the diagnostic value of DIF along with clinical and histopathological findings will be maximized only when the DIF test is performed for appropriate diseases.
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Eosinophilic dermatosis of hematological malignancy (EDHM) is a rare condition associated with various hematologic malignancies, characterized by pruritic skin eruptions. We present a case of a 66-year-old woman with follicular lymphoma who developed urticarial and vesicular lesions indicative of EDHM following chemotherapy.The diagnosis was confirmed through histological analysis, revealing eosinophilic infiltration. Treatment included additional chemotherapy sessions and topical corticosteroids, resulting in complete resolution of skin lesions and lymphoma. EDHM requires careful differentiation based on clinical and histological findings. The pathogenesis remains unclear, but addressing underlying hematologic malignancies appears crucial in management. Early recognition of EDHM is essential for appropriate intervention due to its limited therapeutic options.
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Dystrophic epidermolysis bullosa (DEB) pruriginosa is a rare subtype of DEB characterized by multiple, violaceous, and severe pruritic lichenified nodules along with blisters. Here, we report the case of a Korean male who, since the age of 3 years, had multiple pruritic nodules with blisters on both lower extremities. Genetic testing is required to diagnose DEB pruriginosa because its clinical and histologic features are inconclusive. We identified compound heterozygous COL7A1 variants of c.5797C>T (p.R1933*) and c.3301C>T (p.R1101W) in the patient, leading to a diagnosis of recessive DEB pruriginosa. Among the variants identified, c.3301C>T is a novel missense variant that has not been reported previously. This variant is in exon 26, which encodes von Willebrand factor A (vWFA) in collagen type VII. vWFA is known to preserve normal dermal structures by interacting with dermal collagens and basement membranes. Considering that this variant contradicts the general concept that autosomal dominant inheritance is more common and that variants typically occur in the triple helical collagenous domain of COL7A1 in DEB pruriginosa, we focus on the rarity of this case and the possible pathogenic role of the c.3301C>T (p.R1101W) variant.
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Bullous pemphigoid (BP) is a chronic, autoimmune blistering disease that has concerning morbidity and mortality rates. Recently, several studies have focused on eosinophils due to their significant role in the pathogenesis of BP, considering that they are ubiquitous in the serum, tissue, and blister fluids of patients with BP. With this context, precision therapy that targets mediators of eosinophil activity could be a possible novel therapeutic strategy.Interleukin (IL)-5 is crucial for B-cell maturation, which consequently results in immunoglobulin production, and promotes eosinophil differentiation, proliferation, and activation. To our best knowledge, reslizumab has not yet been reported to treat BP. Herein, we report a case of steroid- and omalizumab-resistant BP treated successfully using reslizumab. Our data suggest that IL-5 could be a novel specific biologic target within the entire immunopathogenesis of BP, and reslizumab would be a novel therapeutic modality.
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Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare and aggressive lymphoma with an overall incidence of 0.04 cases per 100,000 people. BPDCN is a hematopoietic clonal neoplasm that originates from plasmacytoid dendritic cell precursors. A 63-year-old man presented with multiple erythematous nodules over his whole body, including his face, trunk, and both upper and lower extremities that appeared 1 month ago. Skin biopsy showed diffuse dermal infiltration by monomorphic atypical lymphocytes with large, irregular nuclei and scant cytoplasms. Immunohistochemical staining was positive for CD4, CD56, and CD123. The karyotype test showed abnormalities in male chromosomes 47, XY, ＋8 [2]/46, and XY [25], and mutations in DNMT3A, TET2, SRSF2, and ATRX genes were identified in a next-generation sequencing (NGS)-based acute myeloid leukemia gene panel test. The patient was diagnosed with BPDCN and treated with a KALLA 1406 regimen; however, he died on the 17th day of treatment.
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Myxoinflammatory fibroblastic sarcoma (MIFS) is a rare neoplasm that is frequently located in the distal extremities. Emerging evidence suggests that MIFS can also affect the proximal limbs, trunk, and scalp, and aggressive clinical courses have been noted. We report a case of MIFS that occurred suddenly in the patient’s forearm and grew rapidly within 2 weeks. A level of Ki-67 was observed in the patient’s lesion, which constitutes a considerable finding compared with most MIFS cases. The patient underwent surgical tumor removal, and no evidence of recurrence was noted. We highlight this case in view of its sudden occurrence and rapid local progression, which contradicts the usual features of this disease, suggesting that this clinical course might be attributable to the high Ki-67 value.
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A cherry hemangioma is a type of capillary hemangioma that commonly occurs in older adults. Despite its benign nature, treatment is often required for cosmetically unacceptable lesions, and therapeutic options include electrocoagulation, sclerotherapy, cryotherapy, or laser therapy. Laser therapy using a V-beam and long-pulsed neodymium-doped yttrium aluminum garnet laser has shown favorable outcomes in patients with hemangiomas. We report two cases of cherry hemangiomas treated with the ‘Pharaon LipoⓇ laser’, an advanced and powerful diode laser that is not commonly used for hemangiomas but is selected for lipolysis and varicose vein coagulation. A 64-year-old German man presented with a several-decade history of multiple erythematous maculopapules on his chest, and a 30-year-old Korean man presented with a one-year history of similar lesions on his abdomen. Histopathological evaluation of biopsy specimens confirmed diagnosis of cherry hemangiomas. We successfully treated these lesions using the Pharaon Lipo Ⓡlaser without any adverse effect.
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Purpose@#HOX transcript antisense intergenic RNA (HOTAIR), as a long non-coding RNA, has been reported to regulate carcinogenesis by epigenetic mechanism in various cancers. Protocadherin 10 (PCDH10) is one of the well-known tumor suppressor genes, and is frequently methylated in gastric cancers (GC). We aimed to investigate the detailed pathway of how HOTAIR contributes to the target gene in gastric carcinogenesis. @*Materials and Methods@#We investigated the mechanism of HOTAIR on carcinogenesis and metastasis of GC. Methylation-specific PCR was performed to identify the interaction between HOTAIR and PCDH10. In addition, we investigated the interaction between miR-148b and HOTAIR by dual-luciferase reporter assay and RNA immunoprecipitation (RIP) assay. @*Results@#The expression of HOTAIR was significantly upregulated in GC tissues (p<0.05) and GC cell lines (p<0.01), while PCDH10 was downregulated in GC tissues (p<0.05). The knockdown of HOTAIR (si-HOTAIR1 and 2) significantly upregulated the mRNA/protein expression of PCDH10 and reduced the methylation of PCDH10 compared to the control in MKN 28 and MKN 74. Si-HOTAIR1 and 2 significantly reduced DNA methyltransferase 1 (DNMT1) expression, and overexpression of HOTAIR increased DNMT1 expression. In RIP, we found that miR-148b interacted with HOTAIR. Si-HOTAIRs increased miR-148b expression, and miR-148b mimic inversely reduced HOTAIR expression. Si-HOTAIRs and miR-148b mimic reduced DNMT1 expression and increased PCDH10 expression compared to the control. @*Conclusion@#This study demonstrated that HOTAIR interacts with miR-148b and DNMT1, eventually leading to PCDH10 methylation, which contributes to the progression of GC. Our findings provide a better understanding for detailed pathway of HOTAIR in epigenetic mechanism of GC.
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A cherry hemangioma is a type of capillary hemangioma that commonly occurs in older adults. Despite its benign nature, treatment is often required for cosmetically unacceptable lesions, and therapeutic options include electrocoagulation, sclerotherapy, cryotherapy, or laser therapy. Laser therapy using a V-beam and long-pulsed neodymium-doped yttrium aluminum garnet laser has shown favorable outcomes in patients with hemangiomas. We report two cases of cherry hemangiomas treated with the ‘Pharaon LipoⓇ laser’, an advanced and powerful diode laser that is not commonly used for hemangiomas but is selected for lipolysis and varicose vein coagulation. A 64-year-old German man presented with a several-decade history of multiple erythematous maculopapules on his chest, and a 30-year-old Korean man presented with a one-year history of similar lesions on his abdomen. Histopathological evaluation of biopsy specimens confirmed diagnosis of cherry hemangiomas. We successfully treated these lesions using the Pharaon Lipo Ⓡlaser without any adverse effect.
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Purpose@#The mechanisms of Wnt/β-catenin pathway signaling and abnormal expression of tumor suppressor genes is not well known in gastric cancer (GC). Long non-coding RNA (lncRNA) has recently been identified as a possible link therein. In this study, we investigated the role of lung cancer associated transcript 1 (LUCAT1) in GC. @*Materials and Methods@#The expression of LUCAT1 in GC cell lines and 100 tissue samples was examined by qRT-PCR. Two different siRNAs were used for knockdown of LUCAT1 expression. Cell viability was assessed by MTT assay. To analyze metastasis, scratch wound-healing assay, a Matrigel invasion assay, and colony formation assay were performed. Apoptosis was analyzed by PI/Annexin-V staining. To check the methylation status in tumor suppressor genes, methylation-specific PCR was carried out.Western blot was performed to detect epithelial-mesenchymal transition and apoptosis markers upon silencing of LUCAT1 (siLUCAT1). @*Results@#LUCAT1 expression in GC cell lines and tissues was significantly elevated, compared to that in normal gastric cells and adjacent non-tumor tissues (p<0.001). Two different siRNAs for LUCAT1 reduced cell proliferation, invasion, and migration, compared to siCT (p<0.05), and these reductions were restored by pcDNA-LUCAT1 (p<0.05). siLUCAT1 elicited upregulation of the expression of CXXC4 and SFRP2. The expression of H3K27me3 was reduced by siLUCAT1, and this reduction was correlated with methylation of CXXC4 and SFRP2. Inhibition of LUCAT1 up-regulated EZH2 expression and resulted in demethylation of CXXC4 and SFRP2 through the Wnt/β-catenin signaling pathway. @*Conclusion@#We concluded that LUCAT1 induces methylation ofCXXC4 and SFRP2, thereby regulating Wnt/β-catenin signaling in GC.
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Background@#Vitiligo is a skin depigmentation disorder, for which, repigmentation treatment with combined follicular unit extraction (FUE) graft and narrowband ultraviolet B (NBUVB) is considered superior to micro-punch graft therapy. BMP4 can induce MITF expression in Neural crest stem cells (NCSCs), and α-MSH subsequently promotes the differentiation of MITF-expressing cells along the melanocyte lineage. @*Objective@#To investigate why FUE grafting is superior to epidermal mini grafting in promoting hair follicles (HF) melanocyte cell survival and longevity, we planned the in vitro experiments HF bulge NCSCs differentiate into melanocyte precursors under the co-treatment of BMP4 and α-MSH. @*Methods@#Cells that migrated from the HF bulge of scalp were cultured and assessed using immunofluorescence. Transcriptome analysis was performed on RNA sequencing results. @*Results@#Basic fibroblast growth factor promotes the proliferation and survival of NCSCs, with spontaneous differentiation into SOX10+/SOX2+ glial progenitors, but not into SOX10+/MITF+ precursor melanocytes. Both BMP4 and α-MSH promoted the differentiation into MITF-expressing cells. RNA sequencing revealed a downregulation in neu-regulin-1 (NRG1) and sermaphorin 3C (SEMA3C), and upregulation in WNT10A. Furthermore, FUE grafting had a source of reservoir melanocytes superior to mini- grafting in treatment for vitiligo. @*Conclusion@#We obtained SOX10+/ MITF+ precursor melanocytes through an induction of differentiation along the melanocyte lineage by BMP4 and α -MSH. According to the RNA sequencing results that NRG1 and SEMA3C were downregulated and WNT10A was upregulated, we postulated that HF NCSCs differentiated into melanocyte by co-treatment of BMP4 and α-MSH. Overall, FUE grafting is a more robust and substitutive treatment option for vitiligo.
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BACKGROUND/AIMS: Gastric cancer is one of the most common malignant tumors worldwide with poor prognosis due to a lack of effective treatment modalities. Recent research showed that a long noncoding RNA named N-BLR modulates the epithelial-to-mesenchymal transition (EMT) process in colorectal cancer. However, the biological role of N-BLR in gastric cancer still remains to be explored. The aim of this study was to investigate the possibility of N-BLR as an EMT modulator in gastric cancer. METHODS: The expression of N-BLR was measured by quantitative polymerase chain reaction in fresh gastric cancer tissue, paired adjacent normal tissues and cell lines. Fresh gastric tissues, paired samples obtained by surgery and clinical data were collected prospectively. Knockdown of N-BLR was induced by small interfering RNA (siRNAs). Cell number and viability were assessed after treatment with siRNAs. The ability of N-BLR to promote metastasis was measured using migration and invasion assays. Additionally, an inverse correlation between N-BLR and miR-200c was measured by TaqMan microRNA assays. Western blotting was performed to detect EMT and apoptosis markers upon knockdown of N-BLR. RESULTS: N-BLR expression was significantly elevated in gastric cancer cell lines and tissues compared to that in a normal gastric cell line and adjacent normal tissues (p<0.01). Two different siRNAs significantly reduced cell proliferation of gastric cancer cells compared to the siCT. siRNAs for N-BLR significantly suppressed migration and invasion in AGS and MKN28 cells. N-BLR expression was inversely correlated with miR-200c, which is known to regulate EMT. CONCLUSIONS: In this study, we confirmed N-BLR as a regulator of the EMT process in gastric cance
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Adenocarcinoma , Apoptose , Western Blotting , Contagem de Células , Linhagem Celular , Proliferação de Células , Neoplasias Colorretais , MicroRNAs , Metástase Neoplásica , Reação em Cadeia da Polimerase , Prognóstico , Estudos Prospectivos , RNA Longo não Codificante , RNA Interferente Pequeno , Neoplasias GástricasRESUMO
The nodular form of muscular sarcoidosis is a rare malady that is often confused with a soft-tissue neoplasm or other lesion. Here, we present a case of nodular muscular sarcoidosis in the arms and legs of a 59-year-old woman. She presented at our hospital with a painless nodule in her left arm. Excision was performed and she was diagnosed with sarcoidosis. One year later, nodular sarcoidosis recurred in her arms and legs. After 2 months of steroid medication, the nodules disappeared. The patient has been followed for 2 years and no evidence of recurrence has been observed.
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Feminino , Humanos , Pessoa de Meia-Idade , Braço , Perna (Membro) , Recidiva , SarcoidoseRESUMO
PURPOSE: Reconstruction of eyebrow defects after wide excision of the benign and malignant tumors present a cosmetic challenge to the plastic surgeon. There were several methods for reconstruction of partial eyebrow defect with local flaps except hair bearing composite graft. We introduce simple eyebrow reconstruction with bilateral advancement flap and tattooing on the idea that eyebrow tattooing is popular permanent eyebrow makeup among elderly Korean women. METHODS: The flaps were designed on both ends of the eyebrow defect along the upper and lower margin of the eyebrow. Both flaps were cut, undermined and were moved centrally to cover the defect. Both flaps were attached along the vertical suturing line. The rest of each flap was sown with dog-ears revised minimally. Scar lines would be hidden along the natural borders of the eyebrow if possible. The resulting vertical scar finally was covered with hair. After 8 months, eyebrow tattooing would be done to camouflage eyebrow shortening and scar. RESULTS: Partial eyebrow defect was reconstructed successfully with bilateral advancement flap and tattooing. The postoperative scar was inconspicuous and eyebrow looked symmetric. CONCLUSION: We recommend partial eyebrow reconstruction with bilateral advancement flap and tattooing for the elderly Korean female patients after excision of small tumor in and around eyebrow region.
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Idoso , Feminino , Humanos , Cicatriz , Cosméticos , Sobrancelhas , Cabelo , Tatuagem , Transplantes , UrsidaeRESUMO
PURPOSE: Breast surgeons usually insert tissue expander or implant beneath the subpectoral-subcutaneous dual plane in breast reconstruction. But sometimes it happens unsatisfactory lower pole fullness, asymmetric inframammary fold and breast shape. To solve all the problem like these, we introduce implant breast reconstruction using AlloDerm sling. METHODS: The AlloDerm sling was used in 13 patients and 18 breasts for implant breast reconstruction. After mastectomy, costal and lower sternal insertion of pectoralis major muscle was detached. Rehydrated AlloDerm was sutured to the chest wall and serratus anterior fascia at the level of inframammary fold downward and to lower border of the pectoralis major muscle upward like crescent shape with tension free technique after implant insertion into the subpectoral-subAlloDerm dual pocket. And we evaluate subpectoral capsule and subAlloDerm capsule histologically for the capsular thickness, amount of myofibroblast and TGF-beta expression. RESULTS: We make satisfactory lower pole fullness, symmetric inframammary fold and breast shape using AlloDerm sling. SubAlloDerm capsule was thin than subpectoral capsule. SubAlloDerm capsule have fewer myofibroblast and lower TGF-beta expression than subpectoral capsule. CONCLUSION: Implant breast reconstruction using AlloDerm sling makes easy to get natural breast shape through satisfactory lower pole fullness, symmetric inframammary fold and implant positioning.
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Feminino , Humanos , Mama , Implantes de Mama , Colágeno , Fáscia , Mamoplastia , Mastectomia , Músculos , Miofibroblastos , Parede Torácica , Dispositivos para Expansão de Tecidos , Fator de Crescimento Transformador betaRESUMO
Metastatic tumors to the myocardium proper are uncommon and difficult to diagnose because they have nonspecific signs and symptoms. Electrocardiogram (ECG) changes mimicking ischemic heart disease often develop when non-conducting tumor tissue replaces cardiac muscle. Hence, a high level of suspicion is required to differentiate ECG changes caused by myocardial metastasis from those caused by coronary heart disease in cancer patients. We describe a case of primary lung cancer with myocardial metastasis that showed diffuse ST segment elevation and T wave inversion on the ECG, with a relevant literature review.
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Humanos , Doença das Coronárias , Eletrocardiografia , Pulmão , Neoplasias Pulmonares , Isquemia Miocárdica , Miocárdio , Metástase NeoplásicaRESUMO
Primary gastric choriocarcinoma (PGC) is a rare tumor, and its pathogenesis is still uncertain. Most PGCs have been reported to possess an adenocarcinoma component of variable extent, and pure PGC is especially rare. The diagnosis of PGC is confirmed by exhibition of choriocarcinomatous components on biopsy and exhibition of beta-hCG positive cell on immunohistochemical stain and elevation of the serum beta-hCG. Moreover it must be confirmed that no other site including gonads displays any tumor masses. The PGC tends to be more invasive and to have early metastasis. The median survival is known to be less than several months. We report two cases. The first case was a 62 year-old man who was diagnosed as advanced gastric cancer (AGC) by endoscopic biopsy with hepatic metasasis and received palliative chemotherapy with modified FOLFOX regimen and Genexol plus cisplatin regimen. He underwent subtotal gastrectomy due to perforation of the stomach during chemotherapy. On post-operative biopsy, He wasre-diagnosed as PGC and received another palliative chemotherapy modified FOLFIRI, BEP, EMACO, VIP. However, multiple liver metastases were aggravated, and also serum AFP level increased. Ultimately, the paient died 10 months after initial diagnosis. Another case was a 45 year-old man. On endoscopic biopsy, he was diagnosed as AGC of adenocarcinoma. On Chest and Abdomen CT, multiple pulmonary and hepatic metastasis were also confirmed. On liver biopsy, He was diagnosed as PGC. The immunohistochemical stains were performed and the results were cytokeratin positive, EMA negative and beta-hCG weak positive. The serum beta-hCG level was highly elevated. BEP, VIP and EMA/CO combination therapy were administered, but he died at 12th months after the initial diagnosis.
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Feminino , Gravidez , Abdome , Adenocarcinoma , Protocolos de Quimioterapia Combinada Antineoplásica , Biópsia , Coriocarcinoma , Cisplatino , Corantes , Fluoruracila , Gastrectomia , Gônadas , Queratinas , Leucovorina , Fígado , Metástase Neoplásica , Compostos Organoplatínicos , Estômago , Neoplasias Gástricas , TóraxRESUMO
Tumor lysis syndrome is a life-threatening complication of anti-cancer therapy that typically occurs in patients with large, rapidly growing and treatment-sensitive tumors such as high-grade lymphomas and acute leukemias. However, its incidence in solid tumors has been known to be very low. Tumor lysis syndrome in solid tumors has a high mortality rate owing to the lack of prophylactic therapy to prevent this complication. We report a case of fatal tumor lysis syndrome developed during chemotherapy in extensive-stage small cell lung cancer, along with a brief review of the relevant literature considering the rarity of this manifestation in solid tumor.
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Humanos , Incidência , Leucemia , Linfoma não Hodgkin , Carcinoma de Pequenas Células do Pulmão , Síndrome de Lise TumoralRESUMO
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Cádmio , Linhagem Celular , Linhagem Celular Transformada , Sobrevivência Celular , Cromo , Proteínas de Choque Térmico , Proteínas de Choque Térmico HSP27 , Íons , Chaperonas Moleculares , Osteoblastos , Osteogênese , TitânioRESUMO