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.
Actins ; Adult ; Child ; Coloring Agents ; Eosinophils ; Factor XIIIa ; Female ; Giant Cells ; Head ; Histiocytes ; Humans ; Incidence ; Infant ; Male ; Muscle, Smooth ; Neck ; Retrospective Studies ; S100 Proteins ; Vimentin ; Xanthogranuloma, Juvenile

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.
Academic Medical Centers ; Biopsy ; Daegu ; Dermatofibrosarcoma* ; Dermatology ; Factor XIIIa* ; Histiocytoma, Benign Fibrous*

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.
Adult ; Asthma ; Blood Coagulation Factors ; Chronic Disease ; Factor XIIIa ; Fibrin ; Fibrinolysis ; Humans ; Nasal Polyps ; Quality of Life ; Thrombin ; Tissue Plasminogen Activator ; Up-Regulation

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.
Antibodies ; Dermatofibrosarcoma ; Diagnosis* ; Diagnosis, Differential ; Factor XIIIa ; Fibroblasts ; Histiocytes ; Histiocytoma, Benign Fibrous* ; Langerhans Cells ; Monocytes

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.
Actins ; Biopsy ; Cytoplasm ; Dermatofibrosarcoma ; Dermis ; Extremities ; Factor XIIIa ; Female ; Fingers ; Histiocytoma, Benign Fibrous ; Humans ; Immunohistochemistry ; Meningioma ; Mucin-1 ; Muscle, Smooth ; Nerve Sheath Neoplasms ; Neurofibroma ; Peripheral Nerves ; S100 Proteins ; Subcutaneous Tissue

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.
Antibodies ; Antigen-Presenting Cells ; Blood Vessels ; Catechols ; Dermatitis, Allergic Contact ; Dermatitis, Contact ; Dermis ; Epidermis ; Factor XIIIa ; HLA-DR Antigens ; Lacquer ; Langerhans Cells ; Rhus ; S100 Proteins ; Skin

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.
Aneurysm ; Collagen ; Coloring Agents ; Dermatofibrosarcoma ; Factor XIIIa ; Female ; Histiocytoma, Benign Fibrous ; Humans ; Hyperpigmentation ; Hyperplasia ; Lower Extremity ; Male ; Retrospective Studies ; Subcutaneous Fat

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.
Desmin ; Diagnosis, Differential ; Factor XIIIa ; Female ; Histiocytoma, Benign Fibrous ; Humans ; Male ; Mitosis ; Recurrence ; Retrospective Studies ; Subcutaneous Fat ; Ulcer

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.
Adult ; Breast ; Cytoplasm ; Dermatofibrosarcoma ; Factor XIIIa ; Humans ; Nipples ; Subcutaneous Tissue ; Ulcer

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.
Animals ; COS Cells ; Cercopithecus aethiops ; Codon, Nonsense ; Factor XIII Deficiency ; genetics ; Factor XIIIa ; genetics ; Genotype ; Humans ; Mutagenesis, Site-Directed ; Mutation, Missense ; Reverse Transcriptase Polymerase Chain Reaction