Desmoplastic fibroma of the pediatric cranium with CTNNB1 mutation: case report and literature review.

PURPOSE: Desmoplastic fibroma (DF) is an uncommon intermediate bone tumor rarely involving the skull with unidentified pathogenesis. We report the first case of pediatric temporoparietal cranial desmoplastic fibroma (DF) with a CTNNB1 gene mutation and review the previous literature. CASE PRESENTATION: A 3-year-old boy had a firm, painless mass on the right temporoparietal region for 22 months. The cranial CT scan showed isolated osteolytic destruction in the outer plate and diploe of the right temporoparietal bone. Gross total resection of the lesion and cranioplasty were performed. After that, a growing epidural hematoma was observed so another operation was performed to remove the artificial titanium plate. Postoperative pathology indicated a DF diagnosis and molecular pathology suggested a missense mutation in exon 3 of the CTNNB1 gene (c.100G > A,p.Gly34Arg). CONCLUSION: Pediatric cranial DF is rare and easy to be misdiagnosed before operation. For cranial DF, lesion resection can be performed and perioperative management should be strengthened. Mutations in the CTNNB1 gene might be one of the molecular pathologic features of DF.

Desmoplastic fibroma in a child: a 9-year follow-up case report.

BACKGROUND: Desmoplastic fibroma is an extremely rare primary bone tumor. Its characteristic features include bone destruction accompanied by the formation of soft tissue masses. This condition predominantly affects individuals under the age of 30. Since its histology is similar to desmoid-type fibromatosis, an accurate diagnosis before operation is difficult. Desmoplastic fibroma is resistant to chemotherapy, and the efficacy of radiotherapy is uncertain. Surgical excision is preferred for treatment, but it entails high recurrence. Further, skeletal reconstruction post-surgery is challenging, especially in pediatric cases. CASE PRESENTATION: Nine years ago, a 14-year-old male patient presented with a 4-year history of progressive pain in his left wrist. Initially diagnosed as fibrous dysplasia by needle biopsy, the patient underwent tumor resection followed by free vascularized fibular proximal epiphyseal transfer for wrist reconstruction. However, a histological examination confirmed a diagnosis of desmoplastic fibroma. The patient achieved bone union and experienced a recurrence in the ipsilateral ulna 5 years later, accompanied by a wrist deformity. He underwent a second tumor resection and wrist arthrodesis in a single stage. The most recent annual follow-up was in September 2023; the patient had no recurrence and was satisfied with the surgery. CONCLUSIONS: Desmoplastic fibroma is difficult to diagnose and treat, and reconstruction surgery after tumor resection is challenging. Close follow-up by experienced surgeons may be beneficial for prognosis.

Unraveling the challenges in the diagnosis and management of desmoplastic fibroma of the mandible-a case report.

Desmoplastic fibroma (DF) is an uncommon bone tumor that originates from the mesenchymal tissue and despite being benign, exhibits aggressive behavior locally. The following report describes the case of a 7-year-old boy with a rapidly enlarging swelling on the right side of the mandible. After a thorough clinical examination, radiographic imaging, and histopathological analysis, the diagnosis of DF was confirmed. Treatment planning was formulated considering both the tumor's tendency for local recurrence and the patient's well-being. Due to the patient's young age, segmental resection was not deemed appropriate, and an aggressive curettage and enucleation of the lesion followed by the bone graft was performed instead. The patient was kept under close follow-up for the first month of post-surgery and later reviewed after 3, 6, 9, and 12 months, respectively. Good bone healing was observed on radiographs. The patient did not show any signs of recurrence based on clinical or radiographic assessments and did not exhibit any neurosensory deficits as well.

Desmoplastic Fibroblastoma: An Uncommon Tumor With a Relatively Characteristic MRI Appearance.

OBJECTIVE. We undertook this study to determine the radiologic features of desmo-plastic fibroblastoma. MATERIALS AND METHODS. We reviewed available radiologic images for 29 pathologically confirmed desmoplastic fibroblastomas, including images from MRI, radiography, ultrasound (US), and CT. RESULTS. The patient population included 14 women and 15 men (mean age, 60 years; range, 23-96 years). Typically, lesions were oval or lobulated and relatively small (mean, 5.6 cm). In 14 of the 22 cases that included patient histories, lesions had grown slowly, with two eventually causing pain. The remaining eight were discovered incidentally. All lesions involved or were below the deep fascia. Lesions were well-defined and associated with muscle (45%), deep fascia (28%), joint (21%), or tendon (7%). MR images were available in 26 cases; 14 included unenhanced and contrast-enhanced studies. On MRI imaging all lesions were well-defined and adjacent to dense connective tissue. On T1-weighted images, lesions showed varying amounts of low and intermediate signal intensity similar to that of tendon and skeletal muscle, respectively. On fluid-sensitive images, lesions were more heterogeneous, generally showing a wider spectrum of decreased to intermediate signal intensity. On contrast-enhanced MR images, enhancement was characteristically peripheral and septal with patchy areas of homogeneity. In the 10 cases with radiographs, images showed negative findings or a nonmineralized mass. The 10 available ultrasound studies showed mixed echogenicity. In eight patients, unenhanced CT showed lesions having attenuation similar to that of skeletal muscle. CONCLUSION. Desmoplastic fibroblastoma is an uncommon neoplasm with a relatively characteristic MRI appearance.

Desmoplastic fibroblastoma mimicking tenosynovial giant cell tumor encasing a tendon of the foot.

Desmoplastic fibroblastoma is an uncommon, benign fibrous soft tissue tumor that usually occurs in the arms, shoulders, neck, hands, and feet in the fifth to seventh decades of life. In general, it is commonly located in the subcutaneous tissue and skeletal muscle. The authors report an unusual case of a desmoplastic fibroblastoma mimicking tenosynovial giant cell tumor encasing a tendon of the foot in a 72-year-old woman. Ultrasonography revealed an inhomogeneously hypoechoic lobulated soft tissue lesion completely wrapped around the extensor digitorum longus tendon. Color Doppler study revealed increased vascularity in the internal and peripheral portions of the lesion. Magnetic resonance imaging revealed a well-defined, lobulated soft tissue mass encasing the extensor digitorum longus tendon with predominantly isointense signal with some areas of hypointense signal on T1-weighted images, predominantly hyperintense signal with some areas of hypointense signal on T2-weighted images, and inhomogeneous enhancement on fat-suppressed contrast-enhanced T1-weighted images. Surgical excision was performed, and the mass was diagnosed on pathological examination as a desmoplastic fibroblastoma. There has been no previously published radiologic case of a desmoplastic fibroblastoma encasing a tendon of the foot in the literature.

Remodeling of Costochondral Graft After Mandibular Reconstruction.

Mandibular tumors are rare in children. Most mandibular tumors in children are benign and locally aggressive, and some might require resection to prevent recurrence. Mandibular reconstruction after tumor resection in children has been less documented in published studies than mandibular reconstruction in adults. In children, age, the growth potential of the mandible, and the donor site are important factors that must be considered. The costochondral graft is an option for reconstruction of the resected portion of the mandible in children, especially when the resection involves the condyle, owing to its biologic and anatomic similarity to the temporomandibular joint and its regenerative and growth potential. The objective of the present case report is to present the unusual remodeling of a nonvascularized costochondral graft after mandibular resection in a pediatric patient.

Calcified desmoplastic fibroblastoma of the foot: imaging findings.

We report a case of desmoplastic fibroblastoma (DF) of the foot in a 65-year-old woman. The tumor presented as a slow-growing, painless mass located in the first intermetatarsal space of the right foot. Ultrasound showed a well-circumscribed hypoechoic lesion containing hyperechoic calcifications confirmed on standard radiographs. At magnetic resonance imaging (MRI), the mass appeared isointense to the muscles on T1-weighted (T1W) images, hyperintense on proton-density-weighted fat-saturated images, and presented scattered internal hypointense foci. Post-contrast T1W spectral presaturation with inversion recovery (SPIR) images showed heterogeneous, mostly peripheral, contrast enhancement. DF must be considered in the differential diagnosis of soft-tissue calcified tumors of the foot.

Collagenous fibroma of the right coronary cusp: a case report and literature review.

Collagenous fibroma (desmoplastic fibroblastoma) is a rare benign tumor. This type of tumor mostly occurs in the subcutaneous tissues or skeletal muscle, and to the best of our knowledge, there is no unique case report of it occurring in the cardiac valves. This is the first description of collagenous fibroma in a human heart.

Periosteal desmoplastic fibroma of the tibia in a 3-year-old child.

Desmoplastic fibroma is a rare benign fibrogenic, locally aggressive, primary bone tumor. It is the intraosseous counterpart of soft tissue aggressive fibromatosis. The lesion may very rarely appear as a superficial bone lesion arising from the periosteum; in such cases, a soft tissue mass with changes in the adjacent bone is evident. Periosteal lesions are very rare in the literature; diagnosis is usually based on the radiographic findings, and histological proof of the tumor origin is missing. A periosteal desmoplastic fibroma of the distal tibial metaphysis in a 3-year-old boy is presented. Radiographic investigation included plain radiographs and computed tomography imaging. Both demonstrated a soft tissue lesion involving the superficial bone tissues with non-aggressive looking borders and a pressure effect with a sclerotic rim in the bone. The lesion was excised, and the surgical as well as the histological findings indicated the diagnosis of a desmoplastic fibroma of bone arising from the periosteum. No recurrence was detected 5 years after surgery.

Desmoplastic fibroma arising in the distal phalanx of the great toe: a case report.

Desmoplastic fibroma (DF) of the bone is a rare locally aggressive tumor usually occurring in adolescents and young adults. These tumors most commonly occur in the mandibles and metaphyses of long bones but are extremely rare in small bones, often resulting in diagnostic problems. The occurrence of these tumors in the foot is especially limited. We report the clinical, radiographic, and histologic features of DF arising in the distal phalanx of the great toe and a review of the published data.

Bilateral collagenous fibroma of the hard palate: a case report and review of the literature.

BACKGROUND: Collagenous fibroma or desmoplastic fibroblastoma is a rare benign fibrous tissue tumor. It usually presents as a painless, slowly growing mass. Collagenous fibroma arises ordinarily inside the subcutaneous tissues or skeletal muscles. Histopathologically, the tumor consists of scattered stellate and spindle cells in a hypovascular collagenous stroma without atypia or infiltration. The oral cavity is a very uncommon site for desmoplastic fibroblastoma. Only 15 published articles in the literature reported the intraoral location. We present a case of collagenous fibroma with a bilateral distribution on the hard palate. This is the second case of bilateral collagenous fibroma after a previously reported one in literature; however, our case was larger, occupying almost the whole palate. We discuss the management of this rare tumor and how we can reach definite diagnosis. CASE PRESENTATION: A 37-year-old Caucasian female patient had a huge bilateral firm palatal mass that caused breathing problems. There was no history of trauma and the patient had no relevant medical history Total surgical excision under general anesthesia was carried out and histopathological examination suggested a benign mesenchymal tumor. Immunohistochemistry was necessary to confirm the tumor origin and to exclude aggressive fibromatosis. A diagnosis of bilateral collagenous fibroma was reached. Six months after surgery, there was no recurring lesion and the patient's health was good. CONCLUSIONS: Collagenous fibroma is a benign fibrous tissue tumor of unknown cause that is treated with simple excision. The prognosis is good with no recurrence. Reaching an accurate diagnosis is mandatory to avoid aggressive treatment since collagenous fibroma may be misdiagnosed as aggressive fibromatosis in case of massive size. Clinicians and pathologists should be aware of this unusual tumor for conservative management without side effects.

Cystic changes in desmoplastic fibroma of bone: a new MRI finding.

AIM: To evaluate the magnetic resonance imaging features of desmoplastic fibroma (DF) of bone. MATERIALS AND METHODS: Two radiologists retrospectively evaluated imaging findings of pathologically confirmed DFs in eight patients. Involved sites and longitudinal location in long bones were evaluated using radiography and computed tomography (CT). At MRI, the presence of low signal areas on T2-weighted images (low-T2), enhancement, cystic changes, and locations of the mass were evaluated. The location of masses was evaluated, based on cortical disruption and adjacent soft-tissue extension. RESULTS: Involved sites were the femur in three patients, the tibia in two, and the humerus, fibula, and pubic bone in one each. Of the seven masses in the long bones, three were located in the epi- and metaphysis, two in the meta- and diaphysis, one in the diaphysis, and one in the epiphysis. Seven masses had areas of low T2-weighted or heterogeneous enhancement, and three (38%) showed cystic changes. cortical disruption was seen at MRI in six of eight patients (88%). CONCLUSION: DFs contained cystic change. Cortical disruption may also occur, which may cause confusion with malignant lesions.

Unusual Appearance of Nasal Collagenous Fibroma (Desmoplastic Fibroblastoma) on Imaging.

Collagenous fibroma (CF) is a benign soft tissue tumour with good prognosis. Preoperative imaging diagnosis is essential to avoid unnecessarily extended resection, which may result in irreversible functional damage. However, few studies published to date have reported on the imaging features, associated with this condition. We, therefore, present a patient with histologically proven CF on the dorsum of nose, associated with an unusual appearance on magnetic resonance imaging. Low signal intensity on T2-weighted images and rim enhancement on gadolinium-DTPA (Gd-DTPA) enhanced images are reported in some previously reported cases. However, the unique point about this case is the markedly enhanced nodule revealed in the middle part of the lesion five hours after the administration of contrast media. To our knowledge, this is the first description of late gadolinium enhancement features associated with the condition. Key words: Benign, Soft tissue, Collagenous fibroma, Magnetic resonance imaging.

Desmoplastic Fibroblastoma (Collagenous Fibroma) of the Foot: A Case Report of a Rare Benign Tumor in an Atypical Patient.

Desmoplastic fibroblastoma (collagenous fibroma) is a rare benign soft-tissue tumor. Often found in the subcutaneous and muscle tissue, it is slowly enlarging and generally not painful or invasive. The literature often describes the tumor to be found in the upper extremities, neck, and back. Full excision of the tumor is the treatment of choice, and the prognosis is generally favorable; there are no documented cases of recurrence after full excision. We present an atypical case of desmoplastic fibroblastoma found on the dorsum of the foot with a larger tumor present in a substantially younger patient than is typical.

Desmoplastic Fibroblastoma: A Case of a Rapidly Growing Mass in the Foot.

Desmoplastic fibroblastomas are benign and uncommon soft-tissue tumors. They are typically slow-growing, painless masses found in adult men. Rapidly growing masses have been previously reported, but are more rare. A 56-year-old man presented with a rapidly growing mass in his left foot, which was diagnosed as a desmoplastic fibroblastoma after pathologic evaluation. Although many case reports have been published in the dermatology literature, it is important to be aware of this benign neoplasm to avoid confusion with other rapidly growing malignant soft-tissue masses reported in the podiatry literature.

FDG PET/CT and Bone Scintigraphy in Desmoplastic Fibroma of the Bone.

ABSTRACT: Desmoplastic fibroma is a very rare benign bone tumor with local aggressiveness. We describe imaging findings in 2 cases with desmoplastic fibroma of the bone. One case had a desmoplastic fibroma in the right distal femur, showing bone destruction with sclerotic margins and inhomogeneous FDG uptake. The other case had a desmoplastic fibroma in the left ninth rib, showing progressive peripheral enhancement and increased 99m Tc-MDP uptake.

Desmoplastic Fibroma of Radius Managed with Non-Vascularised Fibular Autograft - A Case Report.

Desmoplastic fibromas of bone are extremely rare, slow growing, locally invasive, benign primary bone tumours, bearing close resemblance to the extra-abdominal desmoid tumours of soft tissue. They typically occur in patients around 30 years of age, and most commonly affect the mandible, pelvis and meta-diaphyseal region of long bones. En bloc or wide resection has typically been the treatment of choice to avoid recurrence, however, recent reports support curettage with bone grafting and adjuvant therapy to minimise functional loss. We report a 9-year-old child with a desmoplastic fibroma of right radius. This is an unusual age group for this bone tumor. The tumor was managed with en bloc resection and reconstruction with a non-vascularised fibula autograft. The patient had good functional outcome and no recurrence at 1-year follow-up. Level of Evidence: Level V (Therapeutic).

Clinical and Imaging Features of Desmoplastic Fibroma of Bone for Correct Diagnosis and Differentiation.

OBJECTIVE: The objective of this study is to analyze the clinical and imaging features of desmoplastic fibroma of bone (DFB) for correct diagnosis. MATERIALS AND METHODS: Twenty patients with DFB confirmed by pathology were enrolled, and the imaging presentations were analyzed. Among 20 patients, plain X-ray was performed in all patients, computed tomography (CT) was performed in 12, and magnetic resonance imaging (MRI) was conducted on eight. The clinical and imaging presentations were analyzed and classified to assist in correct diagnosis. RESULTS: Twenty patients with DFB were retrieved, including eleven males and nine females with an age range of 2-52 years (median 27). The DFB involved the femur in six patients, ilium in five, tibia in four, humerus in two, lumbar vertebra in one, radius in one, and calcaneus in the remaining one. DFB was common in the metaphysis of long bones and could involve the diaphysis and epiphysis. The imaging presentations were divided into four types: the cystic expansile destruction in ten patients, osteolytic destruction in five, mixed destruction in four, and paraosseous destruction in one. CT value was 30 -60 Hu in the lesion area (6 cases CT value45Hu). In eight patients with MRI scanning, the lesion in five patients presented with unevenly equal or low signal on T1WI and unevenly equal or high signal on T2WI, with irregular stripes or patches of low signal on both T1WI and T2WI. In the rest three patients, the lesion was evenly equal or low signal on T1WI and evenly high signal on T2WI. MRI more clearly showed a mass in the adjacent soft tissue and the range of edema in the DFB lesion. CONCLUSION: DFB is a rare tumor with strong local aggressiveness, cystic bone destruction, formation of tumor bone trabeculae, soft tissue masses on imaging presentations, low signals on T1WI and T2WI in the lesion, but no periosteal reaction or calcification, which are helpful for diagnosis of the disease and differentiation from other ones.