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CASE: This case report describes a patient who presented with clinical and radiographic features of a soft tissue sarcoma of the shoulder. Despite having a painless and relatively large mass, a biopsy and resection revealed nodular fasciitis (NF). CONCLUSION: This is an unusual case of a painless 10 cm mass that histopathologically was diagnosed as NF in the upper extremity with proximity to the axillary nerve and posterior humeral circumflex vessels. The USP6 rearrangement was helpful in confirming the diagnosis. Careful clinical, radiographic, and pathologic correlation is necessary in diagnosing these relatively rare tumors. In cases where there are discordant findings, molecular markers can be very helpful.

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CASE: We report a case of intraneural nodular fasciitis in the forearm initially suspected as a schwannoma, emphasizing the importance of accurate diagnosis. A 40-year-old woman presented with mass on the lateral aspect of her right forearm and radial neuropathy symptoms for 2 months. An excisional biopsy and histopathological examination confirmed nodular fasciitis. Postoperative evaluation at 4.5 years found no pain, paralysis, or recurrence. CONCLUSION: Awareness of nodular fasciitis is crucial to prevent misdiagnosis and unnecessary treatment. Despite its rapid growth, nodular fasciitis generally has an excellent prognosis without long-term consequences.

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Nodular fasciitis is a rare but benign fibroblastic proliferation that typically presents as a solitary lesion with rapid growth and variable mitotic activity. The lesions usually occur on the extremities and occasionally in the head/neck region. Involvement of the buccal mucosa is extremely rare with only few reports in the literature; in this case report, we describe a 41 year old female who presented with a 6-month history of a stable intraoral lump at the junction of the upper and lower lip. Fine needle aspiration revealed an atypical spindle cell population with plump cells. The surgical excision demonstrated a well circumscribed tan-white firm nodule. Histologic examination revealed a spindle cell proliferation that grew in short, intersecting fascicles with focal storiform architecture. The lesion had a pushing border that was not overtly infiltrative and the stroma contained focal myxoid changes giving a "tissue culture" appearance to the cells. Immunohistochemical testing showed the tumor cells were vimentin (+), SMA (+), weakly Calponin (+), and desmin (-), cytokeratin (-), AE1/AE3 (-), S100 (-), ALK (-), STAT6 (-), and beta-catenin (-). Fluorescence in-situ hybridization (FISH) revealed a USP6 gene rearrangement with an atypical probe pattern. Next generation sequencing identified a novel SPTAN1::USP6 fusion gene confirming the diagnosis of buccal nodular fasciitis. Identification of the characteristic histologic features and USP6 gene rearrangements helped support the diagnosis. A review of the literature identified 25 cases of nodular fasciitis involving the buccal mucosa. The occurrence of this tumor in an unusual location may pose difficulties for diagnosis.

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Nodular fasciitis (NF) is a benign and self-limiting fibroblastic proliferation that originates from the superficial fascia and extends into the subcutaneous tissue or muscle. It typically manifests in individuals aged 20 to 35 years, with rare occurrences observed in patients over the age of 60 years. We herein report a case involving a 75-year-old man with NF in the right vocal cord. The patient sought medical attention at the Department of Otolaryngology of our hospital because of a 1-month history of hoarseness and breathlessness. The diagnosis was unable to be confirmed through preoperative pathological examination. After admission to our hospital, various examinations were completed and surgical treatment was performed, and the postoperative histopathological findings revealed the presence of NF in the right vocal cord. NF of the vocal cord is a rare clinical entity. Given its rapid progression and propensity for marked infiltration, it often poses diagnostic challenges because it can mimic various malignant soft tissue tumors. Therefore, thorough exclusion of other neoplastic lesions is imperative prior to confirming the diagnosis of NF through pathological examination. Local surgical resection remains the primary treatment modality.

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Eosinophilic fasciitis (EF) remains a diagnostic challenge due to its rarity and resemblance to scleroderma. This case report aims to provide a cohesive exploration of EF's clinical nuances, emphasizing the importance of accurate diagnosis and effective management. A 52-year-old male developed bilateral forearm and calf hardening, along with erythema, pruritus, and pain four months prior to the presentation in our Clinic. The symptoms initially debuted bilaterally in the forearms and progressed to involve the calves, distal arms, and thighs. Clinical examination revealed symmetrical plaques on forearms and calves, featuring erythematous, hyper, and hypopigmented elements extending proximally, a positive "groove sign" and a moderate difficulty in knee joint flexion. Despite these findings, the patient was generally in good condition, without any other notable clinical signs. Initial laboratory findings showed slightly increased percentual eosinophil levels, elevated C-reactive protein (CRP), normal erythrocyte sedimentation rate (ESR), and negative antinuclear and scleroderma specific antibodies. Magnetic resonance imaging (MRI) demonstrated enhanced fascial signal and thickening while the fascia-muscle biopsy revealed marked edema and inflammatory lymphoplasmacytic infiltrate, consistent with the diagnosis of EF. The patient showed a favorable response to systemic corticosteroids. EF predominantly affects males aged 30 to 60 and is characterized by a sudden onset and unclear etiological factors. Differential diagnosis requires careful exclusion of scleroderma and other mimicking conditions. Diagnostic modalities such as skin-muscle biopsy and MRI reveal characteristic findings like inflammatory infiltrate and fascial thickening. Accurate diagnosis and differentiation from scleroderma are crucial, with early intervention involving glucocorticoids and immunosuppressive agents improving long-term outcomes.

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AIMS: Low-grade myofibroblastic sarcoma (LGMS) is a rarely metastasizing myofibroblastic tumour mostly affecting extremities and the head and neck of adults. Histologically, it shows long infiltrative fascicles of spindle cells with moderate nuclear atypia. By immunohistochemistry, it stains positive for smooth muscle actin (SMA) and sometimes for desmin. To date, no recurrent genetic abnormalities have been described. Ubiquitin-specific peptidase 6 (USP6) gene rearrangement is typically found in some benign bone and soft-tissue tumours including nodular fasciitis (NF), among others. Nevertheless, rare cases of USP6-rearranged tumours resembling NF with atypical features have been reported. METHODS AND RESULTS: One index case of LGMS of the deltoid in a 56-year-old man presented the THBS2::USP6 translocation by RNA sequencing (Archer FusionPlex Sarcoma v2 panel). Further screening of 11 cases of LGMS using fluorescent in situ hybridization (FISH) analysis with a USP6 break-apart probe identified two additional cases. These cases were investigated with RNA-sequencing, and a RRBP1::USP6 translocation was detected in one. The other case was not assessable because of low-quality RNA. Noteworthy, rearranged LGMSs presented distinctive features including variable multinodular/plexiform architecture, prominent vasculature with occasional wall thickening, scattered osteoclast-like multinucleated giant cells, and peripheral lymphoid aggregates. CONCLUSION: Our findings support the notion that among soft-tissue neoplasms with fibroblastic/myofibroblastic phenotype, USP6 rearrangement is not limited to benign tumours, and warrants further investigation of genetic changes in myofibroblastic sarcomas.

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BACKGROUND: Fasciitis ossificans is a rare subtype of nodular fasciitis, a benign soft tissue tumor with reactive characteristics. Due to its rapid growth, it is often misdiagnosed as a malignant tumor. While fasciitis ossificans commonly originates from the subcutaneous tissue and can appear throughout the body, it may also arise from extraordinary sites. CASE PRESENTATION: We report the first-ever documented case of fasciitis ossificans arising from the penis in a male patient who presented with a tumor on the glans penis. The tumor was surgically resected due to suspicion of penile cancer. Initial histopathological analysis led to a misdiagnosis of squamous cell carcinoma. However, pathological consultation ultimately confirmed the diagnosis of fasciitis ossificans of the penis originating from the glans penis by demonstrating ossification. CONCLUSION: This case underscores the importance of considering fasciitis ossificans in the differential diagnosis of soft tissue tumors, even in unusual locations such as penile soft tissue.

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ABSTRACT: We report a case of ischemic fasciitis in a 34-year-old male patient who presented with hard swelling on the anterior aspect of the scalp measuring 5 × 4 cm. He gave a history of wearing a tight turban constantly for many years. The lesion initially presented as redness of the skin, which gradually became a nodular swelling over 2 years. A computed tomography (CT) scan showed conical solid soft tissue attenuation mass. The operative findings were suspicious of neoplasm. However, the microscopic findings were typical of ischemic fasciitis, that is, a zonal pattern with central hypocellular fibrinoid necrosis surrounded by more cellular areas containing prominent proliferating neovessels and fibroblasts resembling granulation tissue. Ischemic fasciitis of the scalp is extremely rare, the present case occurred as a result of ischemia continuously exerted due to wearing a tight turban. This case highlights the importance of eliciting relevant case history and avoids histological misinterpretation of this pseudo-neoplastic lesion.

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The article describes a clinical case of a benign tumor from smooth muscle cells - piloleiomyoma. The incidence of leiomyoma in the skin is 3-5% of all leiomyomas. A 27-year-old patient applied to a medical institution with complaints about an intradermal formation in the ear region that occurred repeatedly within 5 months after surgical treatment. After the first surgical intervention, the patient was consulted in various medical organizations, where the following diagnoses were made: «nodular fasciitis¼, «smooth muscle tumor without signs of malignancy¼ and «non-epithelial spindle cell neoplasm¼. According to ultrasound examination, the formation with dimensions of 11×9×5 mm reached the mastoid process of the temporal bone and was characterized by increased internal blood flow. After surgical removal of the neoplasm, taking into account the difficulties of differential diagnosis, an immunohistochemical study was conducted. An accumulation of smooth muscle cells was detected in the surface layers of the dermis under the epidermis by the immunohistochemical study with the use of the marker SMA. A study on CD34 protein revealed a high density of blood capillaries and the absence of its expression in smooth muscle cells. The proliferative index (Ki-67) and mitotic activity (PHH-3) of cells was also studied. The index of proliferative activity was less than 2%, mitoses were isolated. Thus, the results of immunohistochemical study proved the conclusion of piloleiomyoma.

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AIM: To describe the imaging features of fasciitis ossificans and its histopathological features. MATERIALS AND METHODS: Using a word search of existing pathology reports at the Mayo Clinic, six cases of fasciitis ossificans were identified. The clinical history, histology, and available imaging of the affected area were reviewed. RESULTS: Imaging consisted of radiographs, mammograms, ultrasound images, bone scintigraphs, computed tomography (CT), and magnetic resonance imaging (MRI) images. All cases demonstrated a soft-tissue mass. The characteristic MRI appearance was a T2 hyperintense enhancing mass with surrounding soft-tissue oedema. Peripheral calcifications were seen on radiographs, CT, and/or ultrasound. Histological sections showed distinct zonation, with nodular fasciitis-like zones of myofibroblastic proliferation, which merged with osteoblasts that rim the ill-defined trabeculae of woven bone and became continuous with the mature lamellar bone surrounded by a thin layer of compressed fibrous tissue. CONCLUSION: Imaging features of fasciitis ossificans are that of an enhancing soft-tissue mass located within a fascial plane with prominent surrounding oedema and mature peripheral calcification. Imaging and histology are that of myositis ossificans but occurring within the fascia. It is important that radiologists are aware of the diagnosis of fasciitis ossificans and appreciate its similarity to myositis ossificans. This is particularly important in anatomical locations with fascias but no muscle. Given the radiographic and histological overlap between these entities, nomenclature that encompasses both could be considered in the future.

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Ubiquitin-specific protease 6 (USP6) rearrangements have been identified in aneurysmal bone cyst, nodular fasciitis, myositis ossificans, fibro-osseous pseudotumour of digits and cellular fibroma of tendon sheath. These entities show clinical as well as histological overlap, suggesting they are all clonal neoplastic belonging to the same biological spectrum and referred to as 'USP6-associated neoplasms'. They all show a characteristic gene fusion formed by juxtaposition of the USP6 coding sequences to the promoter regions of several partner genes, leading to USP6 transcriptional upregulation.

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La fascitis nodular (FN) es una entidad rara que consiste en la proliferación benigna miofibroblástica de la fascia muscular. Se trata de un proceso de etiología desconocida. La presentación clínica habitual consiste en una tumoración de menos de 4 cm de diámetro, indolora, de consistencia dura y de rápido crecimiento. La localización en el territorio craneofacial es muy infrecuente (7-20 %). La fascitis nodular se puede confundir clínica e histológicamente con tumoraciones malignas, por lo que es muy importante un correcto diagnóstico. Presentamos el caso de un paciente varón de 79 años, que consulta por aparición de tumoración paramandibular, de consistencia dura y de dos meses de evolución, asintomática. Tras la realización de pruebas complementarias, el diagnóstico citológico fue de neoplasia mesenquimal con atipias sospechosa de malignidad, recomendándose estudio histológico. (AU)

Nodular fasciitis (NF) is a rare entity consisting of a benign myofibroblastic proliferation of the muscle fascia, a process of unknown etiology. The usual clinical presentation consists of a tumor of less than 4 cm in diameter, painless, of hard consistency and rapid growth. Localization in the craniofacial territory is very infrequent (7-20 %). Nodular fasciitis can be clinically and histologically confused with malignant tumors, so a correct diagnosis is very important. We present the case of a 79-year-old male patient who consulted for the appearance of an asymptomatic paramandibular tumor, with a hard consistency and two months of evolution. After performing complementary tests, the cytological diagnosis was mesenchymal neoplasm with atypia suspicious of malignancy, recommending histological study.In conclusion, an extremely rare giant-sized mucinous adenocarcinoma of the submandibular gland is presented. (AU)

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The intramuscular subtype of nodular fasciitis (NF) is rare with lesions normally not more than 2 cm in size and characterized by pseudosarcomatous morphology. We report a case of a 27-year-old man with a large-size intramuscular NF. The patient came for treatment complaining of an increasingly enlarged mass in the left upper arm for 4 months. Magnetic resonance imaging (MRI) confirmed the presence of a well-defined tumor measuring 5 cm within the outer edge of the middle humerus. Microscopically, the neoplasm was rich in fibroblasts and myofibroblasts in an interlaced pattern with high mitotic index and evident multinuclear giant cells. Erythrocyte extravasation was easily seen in the stroma. The tumor border was infiltrative. Immunohistochemically, the tumor cells were positive for smooth muscle actin (SMA) and negative for cytokeratin, desmin, H-Caldesmon, CD34, S100, ALK, and ß-catenin. Fibrosarcoma was highly suspected by histopathological and immunohistochemical examination. Molecular detection demonstrated evidence of ubiquitin-specific peptidase 6 (USP6) gene rearrangement in this tumor. Based on the findings, the tumor was diagnosed as intramuscular NF. At 56 months after the initial surgery, the patient had recovered with no evidence of recurrence or metastasis. Large-size intramuscular NF is very rare and easily overdiagnosed as malignant tumor due to its obvious pseudosarcomatoid pathological features. USP6 gene rearrangement detection can effectively avoid this major misdiagnosis.

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Eosinophilic fasciitis (EF), defined as diffuse fasciitis with eosinophilia by Shulman in 1974, is a disease with unknown etiology and whose pathogenesis is still being researched. The diagnosis is based on the clinical aspects (skin induration with an "orange peel" appearance), the lab results (eosinophilia, increased inflammatory markers), the skin biopsy with the pathognomonic histopathological result, as well as the typical MRI changes. The treatment includes glucocorticoids and immunosuppressive drugs. Due to severe refractory cases, the treatment remains a challenge. EF is still a disease with potential for further research.

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Myxofibrosarcoma (MFS) is a fibroblastic/myofibroblastic neoplasm with a variably myxoid stroma. Histologically, MFS shows a wide spectrum of cellularity, pleomorphism and proliferative activity. Because of its variable morphology and lack of discriminatory markers, MFS can be difficult to distinguish from some benign soft-tissue tumors, especially nodular fasciitis (NF). Glucose transporter 1 (GLUT-1) is expressed in a variety of malignant mesenchymal tumors. In the current study, we evaluated GLUT-1 expression to determine its value in distinguishing MFS from NF. Tissue specimens from 14 MFS cases and 16 NF cases were sectioned and stained for GLUT-1 using immunohistochemistry. The percentage of GLUT-1-positive cells was scored as follows: 0 (no staining), 1+ (1-19%), 2+ (20-50%) and 3+ (>50%). Samples with a score of 1+ were defined as GLUT1-expressing samples. GLUT-1 expression was seen in all 14 MFS cases, whereas only 6 NF cases (37.5%) were positive for GLUT-1 and were scored 1+. Notably, 2-3+ GLUT-1 expression was found in 86% of MFS cases and 0% of NF cases. Our results indicate that GLUT-1 is a highly sensitive immunohistochemical marker for MFS and may be useful for the differential diagnosis of MFS and NF.

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Nodular fasciitis (NF) has a low incidence, many classification subtypes and large histological variations. We describe a 17-month-old child who presented with a mass in the right cavity of auricular concha that was successfully cured by 2 procedures. In pediatric patients with fibroproliferative lesions, the possibility of NF should be excluded to avoid misdiagnosis and overtreatment.

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Proliferative fasciitis (PF) is a benign fibroblastic reaction with histological and clinical characteristics that overlap with those of malignant soft tissue tumors; thus, it is referred to as a pseudosarcomatous reaction. It continues to be an important cause of diagnostic error and overtreatment. The childhood PF subtype has some distinct histological and immunohistochemical characteristics that make differential diagnosis with malignant tumors even harder, especially with sarcoma. These proliferations generally occur in the lower limbs, and the periorbital region is a rare location of appearance. Here, we describe a case of childhood subtype PF in a 16-year-old girl located in the periorbital area. To the best of our knowledge, this is the first reported case of childhood subtype PF in the periorbital area, and the third case if PF subtypes are not taken into account.

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Primary aneurysmal bone cyst, nodular fasciitis, myositis ossificans and related lesions as well as fibroma of tendon sheath are benign tumors that share common histological features and a chromosomal rearrangement involving the ubiquitin-specific peptidase 6 (USP6) gene. The tumorigenesis of this tumor spectrum has become complex with the identification of an increasing number of new partners involved in USP6 rearrangements. Because traumatic involvement has long been mentioned in the histogenesis of most lesions in the USP6 spectrum and they morphologically resemble granulation tissue or callus, we attempted to shed light on the function and role USP6 partners play in tissue remodelling and the repair process and, to a lesser extent, bone metabolism.

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