Functional and Cutaneous Treatment Outcomes With Intravenous Immunoglobulin for Eosinophilic Fasciitis: A Retrospective Study.

BACKGROUND: Eosinophilic fasciitis (EF) is a rare subtype of deep morphea with an elevated risk of functional impairment. No treatment algorithm has been established for adults with EF refractory to traditional corticosteroid or immunomodulatory treatments. Research on cutaneous and functional outcomes of alternative therapies, such as intravenous immunoglobulin (IVIG), remains scarce.  Objective: To describe the functional and cutaneous outcomes associated with IVIG in adults with treatment-refractory EF at a tertiary referral center. METHODS: We performed a retrospective chart review of 18 consecutive patients with EF identified through a billing code search seen within the UCSF Department of Dermatology between 2015 and 2022.  Results: Seven patients (41.2%) underwent at least one course of intravenous immunoglobulins (IVIG) during the study period. Of 6 patients with available follow-up data, 5 patients (83.3%) achieved both sustained cutaneous and functional improvement. In the IVIG cohort, 1 patient (16.7%) achieved complete response with relapse, 4 (66.7%) were partial responders, and 1 (16.7%) was a non-responder who required treatment with mepolizumab. CONCLUSION: Adverse effects of IVIG included headaches in 1 patient (14.3%) and rash in 2 patients (28.6%). There were no reported veno-occlusive or thromboembolic events associated with IVIG.  J Drugs Dermatol. 2024;23(4):8017.    doi:10.36849/JDD.8017e.

"Bone in the penis" or fasciitis ossificans of the penis - a first time description of a pseudo-tumor at an extraordinary site.

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.

[A hard subcutaneous swelling: not always as malignant as it seems]. / Een harde onderhuidse bult.

BACKGROUND: Nodular fasciitis is a rare, benign soft tissue tumor in young adults on the arms or trunk. CASE DESCRIPTION: A 24-year-old woman with previous pretibial melanoma in situ presented with a painless, rapidly growing subcutaneous hard swelling on the right forearm since two weeks. Ultrasound showed a subcutaneous, irregularly shaped, vascularized mass, suspicious for malignancy. Three days later, the swelling had subsided spontaneously. A new ultrasound showed a smaller, oval, sharply demarcated lesion with an inflammatory aspect. Histopathological-immunohistochemical examination of a biopsy showed a spindle cell lesion consisting of (myo)fibroblasts with some erythrocyte extravasation, consistent with nodular fasciitis. Three months later the nodule was resolved spontaneously without treatment. CONCLUSION: Nodular fasciitis should be included in the differential diagnosis in case of hard, fast-growing, subcutaneous bumps in young adults. By ultrasound, it is difficult to differentiate from a malignant soft tissue tumor. A biopsy is necessary to confirm the diagnosis with certainty.

Juvenile eosinophilic fasciitis: a single center case series.

BACKGROUND: Eosinophilic fasciitis (EF) is a rare disease characterized by skin induration and musculoskeletal abnormalities. Diagnostic criteria for EF are based on adult populations. There is a need to expand the literature on EF in children due to limited reported cases and potential differences compared to adults. METHODS: We conducted a retrospective review of medical records for six pediatric patients diagnosed with EF at our institution between November 2011 and April 2023. Inclusion criteria required patients to be under 18 years of age at the time of diagnosis and to have confirmed diagnosis through clinical history, imaging, and histology. RESULTS: Most of our cohort were female (83%) and non-Hispanic white (50%). Age at diagnosis ranged from 4 to 16 years. Duration of symptoms before diagnosis varied from 1 to 12 months. Follow-up periods ranged from 14 to 123 months. Concurrent medical conditions included localized scleroderma, acquired thrombophilia, and juvenile idiopathic arthritis. Patients presented with progressive painful swelling, severe joint limitations, and positive prayer sign. Initial regimens involved corticosteroids and methotrexate. Hydroxychloroquine, immunoglobulin, mycophenolate mofetil, rituximab, and tocilizumab were also used depending on the patient's disease severity and course. CONCLUSIONS: Juvenile EF may manifest as swelling and progressive induration without apparent skin abnormalities. Unlike adult populations, no underlying malignancies or associations with trauma were observed in our cohort. Our cases did not exhibit systemic involvement observed in previous studies on juvenile EF. While non-specific, the prayer sign may aid in early recognition of juvenile EF and help prevent long-term disability.

Rare cardiac tumour-nodular fasciitis.

Left ventricular tumour is a rare condition in children. The causes include vegetations, thrombus, and fibroma. 2-year-old asymptomatic female presented with an innocent heart murmur at 6 months of age. Subsequent follow-ups at 18 months of age showed left ventricular mass. Surgical pathology revealed "nodular fasciitis." This type of tumour has never been described in the heart before.

The first case of SARS-CoV-2-induced eosinophilic fasciitis.

Eosinophilic fasciitis (EF), also known as Shulman syndrome, is a rare auto-immune fibrosing disorder of the fascia. Etiopathogeny of EF is still unclear. Nowadays, it is widely known that severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) may induce hyper-stimulation of the immune system. Several cases with fasciitis and rhabdomyolysis induced by coronavirus disease 2019 vaccines have been reported in the literature. Herein, we report the first case of EF possibly triggered by SARS-CoV-2 infection. A 45-year-old Tunisian woman, with no medical history, presented to our department with severe widespread muscle pain noticed one month after a SARS-CoV-2 infection. Physical examination showed an induration of the skin and subcutaneous tissue of the arms, forearms and legs with a restricted joint mobility. The level of eosinophils was 430 E/mm3 (6.1%) [1-4%]. Electromyography and creatine kinase levels were normal. Myositis-related antibodies were negative. Magnetic resonance imaging of the left arm showed high-intensity signal and thickness of the fascia without evidence of muscle or bone involvement. A muscular biopsy from the right deltoid showed thickening and inflammation of the fascia. The patient received intraveinous injections of 1000 mg of methylprednisolone for 3 days with an oral relay of 1 mg/kg per day of prednisone equivalent during 4 weeks. At one-month follow-up, a significant improvement of the skin induration and myalgia was observed, with a disappearance of the biological inflammatory syndrome. This brief report suggests a potential link between SARS-CoV-2 infection and new-onset of auto-immune fasciitis.

Sinonasal nodular fasciitis: report of a case with USP6 rearrangement.

Nodular fasciitis (NF) is a benign myofibroblastic proliferation characterized by rapid growth, a self-limiting course, and USP6 gene rearrangement. Although it can arise in the head and neck region, very few cases of NF involving the sinonasal tract have been reported to date. Herein we report a case of NF involving the nasal cavity presenting as a polypoid well-defined mass causing obstructive symptoms in a male with a history of multiple local surgeries. Although the mass had an unusual clinical presentation, the histopathologic and immunohistochemical findings were consistent with NF. Fluorescent in situ hybridization performed with break-apart probes flanking the USP6 locus on chromosome 17p13 revealed the presence of USP6 gene rearrangement. The patient remained free of disease 124 months after surgical treatment. Considering its remarkably benign behavior despite its alarming clinical and histologic features, the distinction of NF from sinonasal malignant tumors is essential.

[Clinical analysis of nodular fasciitis in the head and neck].

Objective: To analyze the clinical features, diagnosis, treatment and prognosis of nodular fasciitis (NF) in the head and neck. Methods: Seven cases of primary NF in the head and neck admitted to Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology from 1990 to 2022 were retrospectively analyzed, including 3 males and 4 females, aged from 2 to 67 years, and the location, course of disease, clinical manifestations, imaging findings, and treatment results of the disease were summarized. Results: Of the 7 patients, the primary sites were respectively nasal vestibule, paranasal sinus, nasal dorsum, sella turcica and clivus, neck, subglottis, and tonsil. Three cases presented with rapidly growing subcutaneous painless masses within 2 months, 1 case presented with hemoptysis, hoarseness and asthma for 28 days, 1 case presented with blood in the nasal discharge for 2 months, 1 case presented with headache for 1 month, and 1 case was found to have tonsillar neoplasms on physical examination for 3 days. CT was performed in 5 patients and the lesions showed soft tissue density shadows, and MRI was also performed in 2 of them, which showed T1 isointensity or T2 slightly long abnormal signal shadows. All patients underwent simple surgical resection of the mass. The patients were followed up for 13 months to 10 years, and none had recurrence. Conclusion: Primary NF in the head and neck is rare, with atypical clinical symptoms and imaging findings. Surgery is the mainstay of treatment for NF with good results.

Fascitis nodular en región maxilofacial. Un caso clínico / Nodular fasciitis in head and neck region. A case report

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)

Case report: Large-size intramuscular nodular fasciitis, a challenging histopathologic diagnosis confirmed by molecular detection of USP6 gene rearrangement: Case report and literature review.

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.

Eosinophilic Fasciitis: Current and Remaining Challenges.

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.

Childhood proliferative fasciitis of the orbit mimicking sarcoma: a case report.

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.

Nodular Fasciitis in the Cavity of Auricular Concha: A Case Report.

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.

GLUT-1 expression is helpful to distinguish myxofibrosarcoma from nodular fasciitis.

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.