Adult Xanthogranuloma: A Clinical, Histopathological, and Immunohistochemical Study of 19 Korean Cases / 대한피부과학회지

BACKGROUND: Juvenile xanthogranuloma is a benign, self-limited disorder that usually occurs in infants and young children. Xanthogranuloma is rare in adults, and therefore studies reporting adult xanthogranuloma are limited. OBJECTIVE: We investigated the clinical, histopathological, and immunohistochemical characteristics of adult xanthogranuloma. METHODS: In this study, we evaluated 20 lesions in 19 patients with adult xanthogranuloma. RESULTS: A male predominance was observed (male : female ratio 1.4 : 1), and the mean age of patients was 35.1±16.3 years (range 15∼66 years), with the peak incidence observed in patients in their 20s. Notably, 65.0% of the lesions developed on the head and neck. The nodular form was more common than the papular form of this condition. Histopathological examination revealed dense monomorphic histiocytic infiltration without lipidization and scattered eosinophils without multinuclear giant cells in 5 lesions (25.0%), foamy histiocytic infiltration with variations of completely developed Touton giant cells in 10 lesions (50.0%), and fibrohistiocytic proliferation in 3 lesions (15.0%). On immunohistochemical examination, histiocytes including giant cells showed positive test results with Factor XIIIa (90.9%), vimentin (100%), and CD68 (100%) and negative test results with CD1a, smooth muscle actin, and S-100 protein stains. Tumor excision was the treatment for choice. CONCLUSION: Adult xanthogranuloma most commonly manifested as the nodular form of the disease on the head and neck of men in their late 20s. Histopathologically, the classic Touton cell-rich stage was most commonly observed, followed by the stage of early predominantly mononuclear infiltration. This was a single-center, small-sized retrospective study; however, we expect the results of this study to contribute to a better understanding of adult xanthogranuloma.

Immunohistochemical Expressions of D2-40, CD34, and Factor XIIIa between Dermatofibroma and Dermatofibrosarcoma Protuberance / 대한피부과학회지

BACKGROUND: Dermatofibrosarcoma protuberance (DFSP) must be differentiated from dermatofibroma (DF). However, especially in cases of superficial biopsy and cellular dermatofibroma, this is difficult by using histopathology alone since both are composed of neoplastic spindle cells. Although a panel of immunostains is useful, the expressions of conventional markers often overlap. A previous study showed that novel D2-40 immunostain may be useful for differentiating between DF and DFSP. OBJECTIVE: To evaluate the usefulness of D2-40 immunohistochemical staining for differentiating DFSP from DF and compare the results with other commonly used immunostains (CD34 and factor XIIIa). METHODS: Twenty-eight cases of DF and 15 cases of DFSP were selected from clinicopathologically proven cases reviewed by the Department of Dermatology at our medical center and Daegu Catholic University Medical Center. D2-40, CD34, and factor XIIIa immunohistochemical staining was performed. The immunopositivity was measured throughout the entire lesion. RESULTS: Seventeen cases (60.7%) of DF and no cases of DFSP showed immunoreactivity to D2-40 in the spindle cells. Three (10.7%) cases of DF and 13 (86.7%) cases of DFSP showed immunoreactivity to CD34 in the spindle cells. Twenty-five (89.3%) cases of DF and four (26.7%) cases of DFSP showed immunoreactivity to factor XIIIa in the spindle cells. A total of 60.7% of cases of DF were positive on D2-40 staining, 89.3% were negative on CD34 staining, and 89.3% were positive on factor XIIIa staining. All cases (100%) of DFSP were negative by D2-40 staining, 86.7% were positive by CD34 staining, and 73.3% were negative by factor XIIIa staining. CONCLUSION: D2-40 immunostaining may be useful for distinguishing between DF and DFSP since the immunoreactivity of DF was significantly higher than that of DFSP (p=0.001). However, the results of our study were not as useful as those of a previous study. Therefore, further studies are needed to address this issue.

Chronic Rhinosinusitis and the Coagulation System

Chronic rhinosinusitis (CRS) is one of the most common chronic diseases in adults and severely affects quality of life in patients. Although various etiologic and pathogenic mechanisms of CRS have been proposed, the causes of CRS remain uncertain. Abnormalities in the coagulation cascade may play an etiologic role in many diseases, such as asthma and other inflammatory conditions. While studies on the relationship between asthma and dysregulated coagulation have been reported, the role of the coagulation system in the pathogenesis of CRS has only been considered following recent reports. Excessive fibrin deposition is seen in nasal polyp (NP) tissue from patients with chronic rhinosinusitis with nasal polyp (CRSwNP) and is associated with activation of thrombin, reduction of tissue plasminogen activator (t-PA) and upregulation of coagulation factor XIII-A (FXIII-A), all events that can contribute to fibrin deposition and crosslinking. These findings were reproduced in a murine model of NP that was recently established. Elucidation of the mechanisms of fibrin deposition may enhance our understanding of tissue remodeling in the pathophysiology of NP and provide new targets for the treatment of CRSwNP.

Identification of Leukocyte-Specific Protein 1-Positive Cells: A Clue to the Cell of Origin and a Marker for the Diagnosis of Dermatofibroma

BACKGROUND: Dermatofibroma (DF) comprises a heterogeneous group of mesenchymal tumors, with fibroblastic and histiocytic elements present in varying proportions. The cell of origin of DF has been investigated, but remains unclear. OBJECTIVE: The present study attempted to investigate the expression of leukocyte-specific protein 1 (LSP1), a marker of fibrocytes, in DF. Additionally, we evaluated the effectiveness of LSP1 in the differential diagnosis of DF from dermatofibrosarcoma protuberans (DFSP). METHODS: Immunohistochemical staining was performed on 20 cases of DF using antibodies against LSP1, CD68, and factor XIIIa (FXIIIa). In addition, the expression of LSP1 and FXIIIa was evaluated in 20 cases of DFSP. RESULTS: Eighteen of 20 cases (90%) of DF stained positive for LSP1, with variation in the intensity of expression. CD68 was positive in 10 cases (50%), and FXIIIa was expressed in all cases of DF. There were differences between the regional expression patterns of the three markers in individual tumors. In contrast, only 2 of 20 cases of DFSP expressed LSP1, and none of DFSP cases stained positive for FXIIIa. CONCLUSION: The LSP1-positive cells in DF could potentially be fibrocyte-like cells. FXIIIa and CD68 expression suggests that dermal dendritic cells and histiocytes are constituent cells of DF. It is known that fibrocytes, dermal dendritic cells and histiocytes are all derived from CD14+ monocytes. Therefore, we suggest that DF may originate from CD14+ monocytes. Additionally, the LSP1 immunohistochemical stain could be useful in distinguishing between DF and DFSP.

Tissue immunostaining for factor XIIIa in dermal dendrocytes of pityriasis alba skin lesions

BACKGROUND: Pityriasis alba affects 1% of the world population and about 9.9% of the children in Brazil. However, its etiology remains uncertain. OBJECTIVE: The objective of the present study was to evaluate the immunoexpression of factor XIIIa in dermal dendrocytes of skin lesions of pityriasis alba. METHOD: Twenty patients with pityriasis alba and 20 patients with atopic dermatitis underwent biopsy. The dermal dendrocytes marked by factor XIIIa were counted by means of immunohistochemical analysis. RESULTS: The mean amount of dermal dendrocytes found in the patients with pityriasis alba was 2, whereas in the patients with atopic dermatitis it was 4, with a statistically significant difference between them. A cutoff point of 3 cells/square inch was established to differentiate pityriasis alba from atopic dermatitis, with 80% sensibility and 90% specificity. CONCLUSION: We believe that pityriasis alba and atopic dermatitis should be considered different clinical forms within the spectrum of atopic disease, in which sun radiation plays an important role by modulating the progression of the disease. .

Multiple Intradermal Soft Tissue Perineuriomas of the Digit / 대한피부과학회지

Perineurioma is a rare benign peripheral nerve sheath tumor, composed uniformly of perineurial cells. Soft tissue perineurioma primarily arises within the subcutaneous tissue of extremities and trunk as a painless solitary nodule, and should be distinguished from dermatofibroma, neurofibroma, dermatofibrosarcoma protuberans, meningioma and so on. A 25 year-old female is presented with three small asymptomatic papules on the third left finger which were found 3 years ago. Punch biopsy was performed on all of the papules. Microscopic examination demonstrated well-demarcated tumor within dermis, and proliferation of spindle cells with wavy nuclei and elongated bipolar cytoplasmic process, arranged in a whorled pattern. According to immunohistochemical analysis, the tumor cell showed positivity for epithelial membrane antigen, but negativity for S-100 protein, factor XIIIa, CD34, and smooth muscle actin. The diagnosis of soft tissue perineurioma was being made. We report this rare case of perineurioma presented as multiple papules localized within dermis of the digit.

Differences in Antigen-presenting Cells between Normal and Systemic Contact Dermatitis Skin due to Rhus Lacquer / 대한피부과학회지

BACKGROUND: Urushiol is a widely known potent allergen that causes severe contact dermatitis through the epidermis or blood vessels. The role of antigen presenting cells (APC) in allergic contact dermatitis (ACD) is well known, but the role of APC in systemic contact dermatitis (SCD) is not yet fully evaluated. OBJECTIVE: The aim of this study is to observe the changes of APC in thenormal and SCD skin and to discuss their possible roles in the disease process. METHODS: Immunohistochemical differences of the Langerhans cells (LC) and dermal dendritic cells (DDC) were investigated in cases of the normal and SCD skin (Ed note: keep uniformity as above). Immunohistochemical staining with anti-CD1a, S-100 protein, HLA-DR, and factor XIIIa antibodies were performed. The number of CD1a, S-100 protein, and HLA-DR positive cells per mm2 of the epidermis was counted. The number of HLA-DR and Factor XIIIa-positive DDC per mm2 was also evaluated. RESULTS: The LC positive for CD1a and S-100 in the epidermis were slightly higher in SCD, but their difference was not statistically significant. HLA-DR and Factor XIIIa-positive DDC in the dermis weresignificantly increased in the skin of SCD than normal. HLA-DR positive LC in the epidermis was also increased. CONCLUSION: Our results suggest that DDC plays a more important role than that of epidermal LC in urushiol-induced SCD. Increased HLA-DR-positive LC in the epidermis suggests that antigen delivery through the blood also affects the epidermal Langerhans cell beside the dermal dendritic cells.

Presencia de marcadores de las vías de activación de los macrófagos en periodontitis crónica / Presence of markers of activation pathways of macrophages in chronic periodontitis

La periodontitis crónica es una patología infecciosa, causada por un complejo de especies bacterianas, que afecta principalmente los tejidos de inserción de los dientes. La respuesta inmune-inflamatoria producida se caracteriza por la presencia de un infiltrado inflamatorio, en el cual los macrófagos representan entre 5 al 30 por ciento. Es sabido que los macrófagos se activan mediante dos vías: Clásica y Alterna, caracterizadas por la presencia de marcadores indirectos: IFN-y e IL-6 para la vía clásica e IL-4 para la vía alterna, ampliamente abordados. Recientemente, se ha descrito a la subunidad A del factor XIII de la coagulación (FXIII-A) como un buen marcador de la vía alterna. El objetivo de este estudio consiste en determinar la presencia de IFN-y, IL-6, FXIII-A e IL-4 como marcadores de las vías de activación de los macrófagos, en pacientes con periodontitis crónica. Para tal efecto, se realizó inmunohistoquímica y Western-Blot para los cuatro marcadores junto a CD-68, marcador de macrófagos, en 18 biopsias de tejido periodontal sano y 18 con periodontitis crónica. Se detectó la presencia de IFN-y, IL-6, IL-4 y FXIII-A junto a CD68+, en todas las muestras de pacientes sanos y con periodontitis. Los resultados obtenidos sugieren que al estar presente IFN-y, IL-6, IL-4 y FXIII-A, los macrófagos se activarían a través de ambas vías, lo cual, produciría una respuesta tanto proinflamatoria (Th1) como antinflamatoria (Th2). Son necesarios más estudios para determinar si existe una vía preferencial de activación.

Periodontitis is a chronic infectious disease caused by a bacterial species complex, which affects mainly the insertion tissues of the teeth. The immune-inflammatory response produced is characterized by an inflammatory infiltrate in which macrophages represent between 5 to 30 percent. It is known and has been widely discussed that macrophages are activated in two ways: Classical and Alterna, characterized by the presence of indirect markers: IFN-y and IL-6 for the classical pathway and IL-4 for the alternative pathway. Recently the subunit A of the clotting factor XIII (FXIII-A) has been described as a good marker of the alternative pathway. The objective of this study is to determine the presence of IFN-y, IL-6, IL-4 and FXIII-A as markers of the macrophage activation pathways in patients with chronic periodontitis. To this end, we performed immunohistochemistry and Western blot for the four markers with CD68 macrophage marker, in 18 healthy periodontal tissue biopsies and 18 with chronic periodontitis. We detected the presence of IFN-y, IL-6, IL-4 and FXIII-A with CD68 +, in all samples of healthy patients and periodontitis. The results suggest that when present, IFN-y, IL-6, IL-4 and FXIII-A, activate macrophages through both routes, which would produce a proinflammatory response (Th1) as antiinflammatory (Th2). Further studies are necessary to determine whether there is a preferential pathway activation.

Immunoelectron microscopy study of superficial skin nerves in drug-induced acute urticaria / Estudo de microscopia imunoeletrônica dos nervos superficiais da pele na urticária aguda induzida por medicamentos

BACKGROUND: Few studies have evaluated the ultrastructure of the superficial skin nerves in urticaria. OBJECTIVE: The objective of this study was to describe findings in superficial skin nerves in cases of drug-induced acute urticaria. METHODS: Seven patients with drug-induced acute urticaria were included in the study. Skin biopsies were obtained from the urticarial lesion and from the apparently normal skin. The 14 fragments collected were processed for immunogold electron microscopy using single stains for antitryptase and anti-FXIIIa antibodies, as well as double immunogold labeling for both. RESULTS: Some sections showed mast cells in the process of degranulation. Following double immunogold staining, 10 nm (FXIIIa) and 15 nm (Tryptase) gold particles were found together throughout the granules in mast cells, indicating that tryptase and FXIIIa are located inside each one of the granules of these cells. Interestingly, we found strong evidence of the presence of tryptase and factor XIIIa in the superficial skin nerves of these patients, both in cases of urticarial lesions (wheals) and in the apparently normal skin. CONCLUSIONS: Tryptase and FXIIIa are present in the superficial nerves of the skin in drug-induced acute urticaria. This is the first report of tryptase and FXIIIa expression in the superficial skin nerves of patients with urticaria. Tryptase may be participating in neural activation in these patients, while FXIIIa may be present in the nerves to guarantee the functional integrity of structures.

FUNDAMENTOS: Poucos autores têm estudado a ultraestrutura dos nervos superficiais na urticária. OBJETIVO: Descrever os achados nos nervos cutâneos superficiais em casos de urticária aguda induzida por medicamentos. MÉTODOS: Sete pacientes com urticária aguda induzida por medicamentos foram incluídos no estudo. Foram obtidas biopsias da pele da lesão urticariforme e da pele aparentemente normal. Os 14 fragmentos coletados foram processados usando imunomarcação com ouro para anticorpos anti-triptase e anti-FXIIIa separadamente, além da dupla imunomarcação com ambos anticorpos. A seguir as amostras foram submetidas à análise por microscopia imunoeletrônica. RESULTADOS: Alguns cortes demonstraram mastócitos em processo de degranulação. Após a imunomarcação dupla, partículas de ouro de 10 nm (FXIIIa) e partículas de ouro de 15 nm (Triptase) apresentavam-se juntas em grânulos de mastócitos indicando que a triptase e o FXIIIa se localizam dentro de cada um dos grânulos dessas células. Curiosamente, foi encontrada uma forte evidência da presença da triptase e do fator XIIIa nos nervos superficiais dos pacientes avaliados, tanto em lesões urticadas, como na pele aparentemente normal. CONCLUSÕES: A triptase e o FXIIIa estão presentes nos nervos superficiais da pele na urticária aguda medicamentosa. Este é o primeiro relato da expressão de triptase e de FXIIIa nos nervos superficiais na urticária. A triptase poderia estar participando da ativação neural nos pacientes estudados. O FXIIIa poderia estar presente nos nervos, com a finalidade de manter a integridade funcional dessas estruturas.

Efecto del polimorfísmo factor XIII VAL34LEU sobre terapia trombólitica en pacientes con infarto agudo del miocardio con elevación del ST / Effect of factor XIII VAL34LEU polymorphism on thrombolytic therapy in patients with acute ST elevation myocardial infarction

Dos polimorfismos pueden tener un importante papel protector contra el infarto de miocardio, debido a que se asocian a una notable disminución de los niveles plasmáticos del factor VII y de la propensión a la trombosis. Objetivo: 1-. Determinar la presencia del polimorfismo Val34leu del Factor XIII en pacientes con infarto del miocardio que ingresan a la unidad de cuidados coronarios (UCC) del HMPC y reciben terapia trombolítica; 2-. Contrastar el efecto de la terapia trombolítica en pacientes con presencia de la mutación y aquellos que no la presentan. Métodos: Se realizó un estudio de campo, descriptivo y correlacional, desde mayo a septiembre del 2007, en la unidad de cuidados coronarios del HMPC-Caracas. La población fue seleccionada mediante criterios de AHA: SCA con elevación del ST, susceptibles a recibir terapia trombolítica. La muestra definitiva, quedo conformada por 30 pacientes. La eficacia de la fibrinólisis fue evaluada por criterios clínicos, electro cardiográfico y enzimático. Una disminución del ST mayor de 50 % a los 90 min y una elevación temprana de las enzimas cardiacas antes de las 12 h fueron considerados criterios de reperfusión. El ADN genómico fue evaluado mediante reacción en cadena de polimerasa. Resultados: El polimorfismo se presento en 39 % de los pacientes estudiados. Se demostró la asociación entre polimorfismo y niveles de fibrinógeno. Conclusiones: Los valores de fibrinógeno estaban disminuidos en la población con polimorfismo en comparación con la que no lo presentaba. La respuesta terapéutica a la terapia trombolítica se relaciono con el fibrinógeno(AU)

Two polymorphisms may have an important protective role against myocardial infarction, because it is associated with a significant decrease in plasma levels of factor VII and the propensity to thrombosis. Objective: 1 -. To determine the presence of Factor XIII Val34Leu polymorphism in patients with myocardial infarction admitted to coronary care unit (CCU) of the HMPC and receives thrombolytic therapy, 2 -. To compare the effect of thrombolytic therapy in patients with presence of the mutation and those without. Methods: We conducted a field study, descriptive, correlation, from May to September 2007 in the coronary care unit of HMPC-Caracas. The population was selected by AHA criteria: ST elevation ACS, likely to receive thrombolytic therapy. The final sample was composed of 30 patients. The effectiveness of fibrinolysis was assessed by clinical, electro cardiograph and enzyme. ST A decrease greater than 50% at 90 min and an early elevation of cardiac enzymes before 12 h reperfusion criteria were considered. DNA was assessed by polymerase chain reaction. Results: The polymorphism was present in 39% of the patients studied. Demonstrated the association between polymorphism and fibrinogen levels. Conclusions: Fibrinogen levels were decreased in the population with polymorphism in comparison with which it had not. The therapeutic response to thrombolytic therapy was associated with fibrinogen(AU)

[Factor XIIIA-V34L and factor XIIIB-H95R gene polymorphisms in Shahrekord, 2010, I.R.Iran]

Some of the inherited coagulation factor polymorphisms have been related to the pathogenesis of venous thromboembolism and other adverse outcomes. As there are limited data on the prevalence of these polymorphisms in Iranian populations this study aimed to assess two factor XIII polymorphisms, FXIIIA-V34L and FXIIIB-H95R, in healthy individuals. In this cross sectional study 150 healthy blood donors from Shahrekord, Iran with no history of venous thromboembolism were recruited to the study. Genotyping from EDTA taken venous blood for the above polymorphisms was under taken by PCR - RFLP. Fifty one [34%] of participants were heterozygous for VL and 7[4.67%] were homozygous LL. 26 [17.33%] and 1[0.67%] were heterozygous and homozygous for RH and RR of FXIIIB respectively. 48.67% of the study population carried at least one of the above polymorphisms and there was no carrier of both as homozygous. The prevalence of these FXIII polymorphisms in healthy subjects is somehow similar to previously published data in Caucasian populations, but quite different than limited existing data from China and other ethnic groups. Such findings could be relevant to the ethnic similarities and differences

Clinicopathologic Comparison of Dermatofibroma and Dermatofibrosarcoma Protuberans / 대한피부과학회지

BACKGROUND: The histologic distinction of dermatofibrosarcoma protuberans (DFSP) and dermatofibroma (DF) may be difficult, especially in the case of DF extending into the subcutaneous fat. CD34 and Factor XIIIa stains are commonly used in distinguishing the DF from DFSP, but is not always helpful. There are no studies regarding the clinicopathologic comparison of DF and DFSP. OBJECTIVE: The aim of our study was to evaluate the clinicopathologic characteristics and differences between the DF and DFSP. METHODS: Retrospective analysis was performed by reviewing the clinicopatholgic records of 40 patients who were diagnosed with DF, and 11 patients who were diagnosed with DFSP, from 1998 to 2012 in Hallym University Medical Center. RESULTS: The ratio of male to female patients in DF and DFSP were 1:2.1 and 1:1.8, respectively. Disease onset ages were 32.6 years and 34.4 years, respectively. The average size was 0.8 cm and 2.0 cm, respectively. The most frequent location was the lower extremity and the trunk, respectively. No symptom was most common subjective symptom in both DF and DFSP. Most of DF presented as brown colored papules and the lesions of DFSP were reported mainly as brown plaques. Histopathologically, the 40 cases of DF were classified as 24 fibrous types, 12 cellular types and 4 aneurysmal types. Of the 11 DFSP, two cases were classified as myxoid type, one case as pigmented lesion (Bednar tumors) and one case as fibrosarcomatous type. Histopathologic findings of the DF showed more significant epidermal hyperplasia, basal hyperpigmentation and collagen trapping, compared to that of the DFSP. The subcutaneous extension and honeycomb pattern were significantly more present in DFSP than in DF. The immunoreactivity of CD34 in DFSP was generally strong and diffuse, in contrast to absent or focal staining seen in DF. CONCLUSION: We conclude that several cilinicopathologic features, including size, location, epidermal and tumoral component, and immunostaining, for CD34 can be used to distinguish DF from DFSP. Further research regarding the characteristics and differences between DF and DFSP should be performed on larger number of cases.

A Clinical and Histopathological Study of 13 Cases of Facial Dermatofibroma / 대한피부과학회지

BACKGROUND: Dermatofibroma (DF) is one of the most common benign soft tissue tumors, and its diagnosis is not difficult if clinicopathologic features are typical. However, DF occurring on the face is very rare; therefore, it is usually missed clinically. OBJECTIVE: This study was conducted to obtain better understanding of the clinicopathologic features of dermatofibroma of the face. METHODS: This is a retrospective study of fibrous histiocytoma of the face at our center over a 23-year period (1989~2011). Clinicopathologic features of 13 patients were evaluated. RESULTS: Of the 13 patients, ten were female and three were male. The neoplasms presented with various and atypical features, such as nodule, ulceration and papules. Low-power examination revealed that most of the cases were extended beyond the subcutaneous fat layer, showing ill-defined diffuse infiltrative pattern. The most common histologic type was typical fibrocollagenous type, but some cases presented features of cellular or angiomatous type. Mitotic activity was not definite in majority of cases, and usually ranged 0~1 mitoses per 10 HPF and a few atypical cells were shown in 2 cases, but not accompanied by recurrence. Tumor cells in all cases tested were negative for desmin and CD34, but positive for Factor XIIIa and CD68 in majority of the cases. CONCLUSION: Because of its rare development on face and diverse clinical presentation, correct diagnosis with differential diagnosis is thought to be important. DF of the face usually presents with infiltration of deeper structures and still shows a benign behavior.

Molecular mechanisms of Arg77Cys missense mutation and Arg174stop nonsense mutation of factor XIII A gene causing severe factor XIII deficiency / 中国实验血液学杂志

The present study was aimed to investigate the molecular mechanisms responsible for the pathogenesis of severe factor XIII (FXIII) deficiency. Site-directed mutagenesis was conducted to obtain human FXIIIA expression plasmids bearing the mutations. Wild type FXIIIA recombinant plasmid (pcDNA3.1-FXIIIA-wt) and 2 mutant FXIIIA recombinant plasmids (pcDNA3.1/FXIIIA/77mut, pcDNA3.1/FXIIIA/174mut) were transfected into the cultured COS-7 cells using lipofectamine 2000 transfection reagent, respectively. FXIII activities were measured by the Berichrom(®) FXIII chromogenic assay. The expression levels of FXIIIA mRNA were detected by real-time RT-PCR. The recombinant FXIIIA mutants were determined by using Western blot and ELISA. The results showed that the normalized mRNA levels of 2 mutants in transfected COS-7 cells were 0.82 ± 0.21 and 0.76 ± 0.17, respectively. The relative levels of both mRNA transcripts were not significantly decreased as compared with the wild type (1.06 ± 0.51). FXIII activity and FXIIIA antigen levels in concentrated media of cell expressing the wild type protein were (24.0 ± 2.9)% and (13.2 ± 2.3)%, respectively. FXIII activity and FXIIIA antigen levels in cell lysates containing the wild type recombinant protein were (61.6 ± 30.4)% and (32.8 ± 14.5)%, respectively. However, the antigen levels and activity of 2 mutants were severely decreased as compared to the wild type. It is concluded that both mutations severely disturb the normal expression of FXIIIA protein. The reduction of expression levels and decreased activities of the 2 mutants provides a convincible explanation for the deficiency phenotype in the index case.

Subcutaneous Dermatofibrosarcoma Protuberans on the Breast / 대한피부과학회지

Dermatofibrosarcoma protuberans (DFSP) is a dermal spindle cell neoplasm of intermediate malignancy. It typically forms a brown indurated plaque on which firm nodules subsequently arise, sometimes with ulceration. Atypical DFSP presentations are not unusual, including atrophic, pedunculated, morphea-like and angioma-like forms. However, subcutaneous variant of DFSP that may either arise without dermal involvement or with minimal dermal involvement is very rare. A 36-year-old man presented with a palpable nodule without surface change around the right nipple. Microscopically, the neoplasm was composed of spindle cells with monomorphic storiform arrangement. The superficial part of the neoplasm was located in the subcutaneous tissue. Immunohistochemical staining showed strong cytoplasmic positivity for CD34, but not for factor XIIIa. Dermatologists should pay careful attention to these unusual variant of DFSP, which can be confused with other soft tissue tumors.

Undetermined Fibrous Tumor with Calcification in the Cerebellopontine Angle

In this report, we introduce an undetermined fibrous tumor with calcification occurring in the cerebellopontine angle (CPA). A 51-year-old woman was admitted with a short history of dizziness. Computed tomography and magnetic resonance images revealed a 2x2x2 cm sized mass at the left CPA which was round and calcified. There was no dura or internal auditory canal involvement. At surgery, the tumor was located at the exit of 7th and 8th cranial nerve complex. It was very firm, bright yellow and well encapsulated. Histologic findings revealed that the tumor was predominantly composed of fibrous component, scant spindle cells and dystrophic calcification. Immunohistochemical staining demonstrated positive for vimentin and negative for epithelial membrane antigen (EMA), S-100 protein, CD34, factor XIIIa and smooth muscle actin. The diagnosis was not compatible with meningioma, schwannoma, metastatic brain tumors, and other fibrous tumors. Although the tumor was resected in total, long term follow-up monitoring is necessary due to the possibility of recurrence.

Interstitial and Langerhans' dendritic cells in chronic periodontitis and gingivitis

The aim of the present study was to compare quantitatively the distribution of dendritic cell subpopulations in chronic periodontitis and gingivitis. Fourteen biopsies from patients with chronic periodontitis and fifteen from patients with gingivitis were studied. An immunoperoxidase technique was used to quantify the number of Langerhans' cells (CD1a) and interstitial dendritic cells (factor XIIIa) in the oral and sulcular and junctional/pocket epithelia and in the lamina propria. A greater number of factor XIIIa+ dendritic cells in the lamina propria and CD1a+ dendritic cells in the oral epithelium were observed in gingivitis compared to the periodontitis group (p = 0.05). In the sulcular and junctional/pocket epithelia and in the lamina propria, the number of CD1a+ dendritic cells was similar in the gingivitis and periodontitis groups. In conclusion, the number of Langerhans' cells in the oral epithelium and interstitial dendritic cells in the lamina propria is increased in gingivitis compared to periodontitis, which may contribute to the different pattern of host response in these diseases.

A resposta inflamatória na urticária aguda associada a medicamentos: avaliação imunoistoquímica e imunoeletrônica da unidade microvascular da derme / The inflammatory response in acute drug-induced urticaria: immunohistochemistry and ultrastructure of dermal microvascular unit

Os objetivos deste estudo foram orientados no sentido de descreverem-se os tipos de degranulação na urticária, e se analisarem as interações entre dendrócitos da derme e mastócitos. Sete doentes com urticária aguda associada a medicamentos foram incluídos. Foram biopsiadas lesões urticadas e a pele normal, sendo uma das partes processada pela coloração de hematoxilina-eosina, pela coloração de Azul de Toluidina e imunoistoquímica com anti-CD34, antifator XIIIa e antitriptase e a outra para a microscopia imunoeletrônica. Este estudo é inédito pela demonstração da expressão do FXIIIa nos grânulos intracitoplasmáticos e nos grânulos extruídos dos mastócitos, dispersos no extracelular, nos doentes com urticária. Outro fato inédito foi a fagocitose dos grânulos extruídos dos mastócitos pelos dendrócitos.

Background: The knowledge about the cell types involved in urticaria is an essential element for understanding the pathophysiology of this disease. Few authors have been attempting on interactions among mast cells and dermal dendrocytes in urticaria...

Study of Dermatofibromas Using Immunohistochemical Staining / 대한피부과학회지

BACKGROUND: Dermatofibromas are common benign tumors which occur in the skin. They have been divided into "fibrous" lesions, composed entirely or almost entirely of fibroblasts and collagen, and "cellular" lesions composed to a significant degree of phagocytic cells with the appearance of histiocytes. A cellular variant characterized by increased cellularity, storiform arrangement, larger size, and location in the deep dermis, often with extension into the superficial subcutaneous tissue may be difficult to differentiate from dermatofibrosarcoma protuberans. There is an incessant controversy over the histogenesis of dermatofibromas, although many authors consider that these tumors derive from primitive mesenchymal cells. The recent development in immunohistochemical staining technology and ultrastructural study revealed various cellular proliferation in the lesion, including fibroblast, histiocyte and myofibroblast. OBJECTIVE: Our purpose was to study by immunohistochemistry the differences between fibrous and cellular dermatofibromas and to find the relationship between the myofibroblast and the histogenesis of dermatofibroma. METHODS: We will select 36 cases of dermatofibromas which include 27 fibrous and 9 cellular types. We have studied the immunophenotype of 36 dermatofibromas using antibodies against vimentin, smooth muscle actin, desmin, CD34, factor XIIIa, CD68 and MMP 11. RESULTS: All dermatofibromas were positive for vimentin, smooth muscle actin, and factor XIIIa, but negative for desmin and CD34. All cellular type were positive for CD68, but 24/27 of the fibrous type were positive for CD68. MMP 11 was positive in 6/9 of the cellular type and 25/27 of the fibrous type. The degree of staining for vimentin, factor XIIIa, CD68, and MMP 11 was not different in both types. But the degree of staining for smooth muscle actin in the fibrous type was higher than in the cellular type. CONCLUSION: The differences in the degree of staining for smooth muscle actin and the positivity for CD68 suggest the possibility of a different differentiation of dermatofibroma between cellular and fibrous types. The prominent vimentin and smooth muscle actin immunoreactivity and desmin non-reactivity may suggest that the myofibroblast may play a role, in part, for developing dermatofibromas. Further investigations with ultrastructural study using electron microscopy and double/triple immunohistochemical staining would be necessary.

A Case of Bednar Tumor Occurring at the Site of Prior Vaccination / 대한피부과학회지

Bednar tumor is a variant of dermatofibrosarcoma protuberans (DFSP). The clinical and histopathological findings of Bednar tumors are identical to DFSP except for the presence of melanin- containing cells scattered within the lesion, so called pigmented DFSP. There are no known precipitating or predisposing factors associated with this tumor. A 30-year-old woman was presented with a tumor on the right upper arm arising after trauma at the site of prior vaccination. Histologically, it shows large uniformed spindle shaped cells arranged in a cartwheel or storiform pattern mixed with scattered pigmented cells. On immunohistochemical staining, the tumor cells were positive for vimentin and CD34, but negative for factor XIIIa and S-100 protein. The patient was treated with a wide excision and skin graft. We report a case of Bednar tumor occuring after trauma at the site of prior vaccination.