Large Nodular Fasciitis of the Shoulder Presenting as Soft Tissue Sarcoma: A Case Report.

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.

Nodular Fasciitis of the Buccal Mucosa with a Novel USP6 Gene Rearrangement: A Case Report and Review of the Literature.

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.

Intraneural Nodular Fasciitis of the Radial Nerve: A Case Report.

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.

Laryngeal nodular fasciitis in a 75-year-old man: a rare case report and review of the literature.

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.

Eosinophilic fasciitis: unraveling the clinical tapestry of a rare case and review of literature.

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.

Recurrent USP6 rearrangement in a subset of atypical myofibroblastic tumours of the soft tissues: low-grade myofibroblastic sarcoma or atypical/malignant nodular fasciitis?

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.

"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.

[The application of negative pressure wound therapy (NPWT) in potentially lethal conditions]. / A negatív nyomással végzett sebkezelés (NPWT) alkalmazása potenciálisan letális állapotokban.

Bemutatásra kerülo esetünkben egy 47 éves, generalizált septicus állapotú férfi beteg komplex terápiás megoldást igénylo kezelését ismertetjük, negatív nyomásterápia segítségével (NPWT). A páciens kezeletlen diabéteszes láb szindróma talaján kialakult szepszis, fasciitis necrotisans klinikai-radiomorfológiai képével került osztályunkra, akinél sürgosséggel feltárást, az alsó végtag valamennyi kompartmentjét érinto fasciotomiát végeztünk, NPWT-kezelést indítottunk. Kezelése során a beteg állapotát súlyosbító szövodmények léptek fel: Curling-fekély, toxicus epidermalis necrolysis (TEN). A fascitis kapcsán kialakult kb. 6% TBSA (total body surface area) kiterjedésu hámhiányt a TEN-szindróma további epidermális állományvesztéssel tovább súlyosbította. Állapotstabilizálást, kezdeti lokalis kontroll biztosítását követoen a hámhiányos felület csökkentése érdekében a sebeket szukítettük, a feltisztult sebalapok fedése 1:3 arányban hálósított félvastag bor transzplantációjával történt. Az NPWT-kezelést a transzplantációt követoen is folytattuk. A beteg három hónapos intenzív osztályos és sebészeti kezelést követoen sebészi szempontból meggyógyult. A negatív nyomásterápia korai - a kórlefolyásnak megfelelo - adekvát üzemmódban és fedési technikával történo alkalmazása a végtagvesztéssel és életveszéllyel járó nagy fokú hámhiány esetében hatékony eszköznek bizonyult. A multidiszciplináris terápiának köszönhetoen betegünk sebészeti alapbetegségét sikeresen gyógyítottuk, azonban az évtizedes tartamú kezeletlen cukorbetegsége, SARS-Covid peumoniája, a relabáló septicus állapota során fellépo szövodmények következtében felépülni már nem tudott.

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.

Fascitis necrosante como causa de muerte en trauma de recto. Reporte de caso / Necrotizing fasciitis as a cause of death in rectal trauma. Case report

Introducción. La perforación del recto por trauma cerrado es poco frecuente y se asocia a fracturas pélvicas. En pacientes con perforaciones de recto no traumáticas se ha reportado fascitis necrosante en miembros inferiores, en la mayoría de los casos asociada a alta mortalidad. Caso clínico. Hombre de 36 años con trauma cerrado abdomino-pélvico y perforación de recto inferior, quien recibió manejo quirúrgico mediante derivación intestinal y fijación pélvica. Evolucionó con hematoma escrotal sobreinfectado, inestabilidad hemodinámica, signos de fascitis necrosante y choque séptico 4 días posterior a su ingreso. Resultados. Se tomó muestra para cultivo del hematoma escrotal que reportó E. coli. La patología del desbridamiento escrotal informó necrosis de coagulación en toda la muestra. Conclusión. El tacto rectal debe realizarse siempre ante la presencia de enfisema subcutáneo al examen físico o en la tomografía, para un diagnóstico temprano y manejo quirúrgico multidisciplinario oportuno, según el caso. La presencia de enfisema subcutáneo debe aumentar la sospecha de perforación de recto. Hay pocos reportes de fascitis secundaria a perforación de recto por trauma cerrado, por lo que no se conoce con precisión la mortalidad asociada.

Introduction. Rectal perforation due to blunt trauma is rare and associated with pelvic fractures. Signs of necrotizing fasciitis in lower limbs have been reported in non-traumatic rectal perforations, in most cases associated with high mortality. Case report. A 36-year-old man presents blunt abdomino-pelvic trauma and perforation of the lower rectum. Surgical management by intestinal diversion and pelvic fixation is performed. 4 days after admission, evolves with over-infected scrotal hematoma, hemodynamic instability, signs of necrotizing fasciitis and septic shock. Results. A sample for culture was taken from a scrotal hematoma that reported E. coli. Pathology of scrotal debridement reported coagulation necrosis in the entire specimen. Discussion. Digital rectal examination should always be performed in the presence of subcutaneous emphysema on physical examination or CT scan for early and multidisciplinary diagnosis and surgical management as appropriate. Conclusion. The presence of subcutaneous emphysema should raise the suspicion of rectal perforation. There are few reports of rectal perforation due to blunt trauma and fasciitis, so the associated mortality is not precisely known.

[Eosinophilic fasciitis: From pathophysiology to therapeutics]. / Fasciite à éosinophiles : actualités physiopathologiques et nouvelles voies thérapeutiques.

Eosinophilic fasciitis (EF) is a rare connective tissue disorder characterized by painful edema and induration of the limbs and trunk, likely associated with hypereosinophilia and hypergammaglobulinemia. EF causes arthralgia and range of motion limitation, leading to significant functional impairment and poor quality of life. Since its description by Shulman in 1974, over 300 cases have been reported. We present here a review of the latest diagnostic, pathophysiological and therapeutic developments in this disease. Magnetic resonance imaging appears useful to guide diagnosis and biopsy. Diagnosis is based on a deep skin biopsy involving the fascia, which will reveal edema, sclerofibrosis of the muscular fascia and subcutaneous tissue, and an inflammatory infiltrate sometimes composed of eosinophilic polynuclear cells. EF may occur in patients treated with immune checkpoint inhibitors and the diagnosis should be raised in case of cutaneous sclerosis in these patients. The pathophysiology of the disease remains poorly understood, and its management lacks randomized, controlled, blinded trials. First-line treatment consists in oral corticosteroid therapy, sometimes combined with an immunosuppressant, mainly methotrexate. A better understanding of the pathophysiology has opened new therapeutic perspectives and clarified the role of targeted therapies in the management of EF, such as interleukin-6 inhibitors, whose efficacy has been reported in several cases.

[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.

A child with intravascular fasciitis mimicking deep vein thrombosis: a case report.

BACKGROUND: Intravascular fasciitis (IF) is a benign, reactive, myofibroblastic proliferation that originates from the superficial or deep fascia of small / medium-sized arteries and veins. CASE REPORT: An 8-year-old male patient was admitted to a health center with the complaint of swelling in the inguinal region. Lower extremity venous Doppler ultrasonography showed deep vein thrombosis (DVT) of the femoral vein and anticoagulation with low-molecular weight heparin (LMWH) was initiated. The patient was referred to our center for follow-up. The D-dimer level was detected within normal limits. Doppler ultrasonography was repeated and showed an intraluminal expanding mass lesion with increasing vascularity, without distinct borders and LMWH was discontinued. This lesion at the sapheno-femoral junction was excised surgically and the histopathological examination revealed intravascular fasciitis. CONCLUSION: Clinicians should be aware that the clinical findings of IF may mimic sarcoma and thrombosis.

Ischemic fasciitis scalp-unusual presentation and location.

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.

[A clinical case of piloleiomyoma]. / Klinicheskii sluchai piloleiomiomy.

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.