Calcifying Aponeurotic Fibroma Research Articles

Calcifying aponeurotic fibroma: Radiologic-pathologic analysis of ten cases and review of the literature

Calcifying aponeurotic fibroma (CAF) is a very rare benign entity that principally affects the volar fascia, tendons, and aponeuroses of the hands and feet with a peak incidence of between 5 and 15 years, although there have been cases found for a wide age range and at various anatomical sites. We present ten CAF cases; consisting of eight children and two adults. CAF occurred in the extremities in nine of the cases and in the chest wall in one case. CAF ultrasound and radiological findings are nonspecific but may help orientate diagnosis. Magnetic resonance imaging should be performed when there are doubtful cases, when occurring in nontypical sites, and when there are cases of nontypical clinical presentation. Histologically, all cases showed two components, a fibromatosis-like component and a nodular component. Chondroid areas were present in five cases. Calcifications were observed in nine cases. ERG immunostaining showed the same patterns in all the cases; diffuse positivity in pericalcified areas, and patchy positivity in areas away from calcifications. CAF has distinctive histopathological features which should aid in the differential diagnoses with other entities.

Calcifying aponeurotic fibroma

Calcifying aponeurotic fibroma (CAF) is a rare lesion that can affect the feet and should be considered as a differential diagnosis of plantar tumors. The treatment is given by surgical resection, and the definitive diagnosis is confirmed by histopathological analysis. This case report shows the presentation and treatment of a 17-year-old patient with CAF and emphasizes the importance of proper imaging planning to reduce risks and recurrence. Level of Evidence V; Therapeutic Studies; Expert Opinion.

Aberrant receptor tyrosine kinase signaling in lipofibromatosis: a clinicopathological and molecular genetic study of 20 cases

Lipofibromatosis is a rare pediatric soft tissue tumor with predilection for the hands and feet. Previously considered to represent “infantile fibromatosis”, lipofibromatosis has distinctive morphological features, with mature adipose tissue, short fascicles of bland fibroblastic cells, and lipoblast-like cells. Very little is known about the genetic underpinnings of lipofibromatosis. Prompted by our finding of the FN1-EGF gene fusion, previously shown to be a characteristic feature of calcifying aponeurotic fibroma (CAF), in a morphologically typical case of lipofibromatosis that recurred showing features of CAF, we studied a cohort of 20 cases of lipofibromatosis for this and other genetic events. The cohort was composed of 14 males and 6 females (median age 3 years; range 1 month–14 years). All primary tumors showed classical lipofibromatosis morphology. Follow-up disclosed three local recurrences, two of which contained calcifying aponeurotic fibroma-like nodular calcifications in addition to areas of classic lipofibromatosis, and no metastases. By FISH and RNA sequencing, four cases were positive for FN1-EGF and one case each showed an EGR1-GRIA1, TPR-ROS1, SPARC-PDGFRB, FN1-TGFA, EGFR-BRAF, VCL-RET, or HBEGF-RBM27 fusion. FN1-EGF was the only recurrent fusion, suggesting that some cases of “lipofibromatosis” may represent calcifying aponeurotic fibroma lacking hallmark calcifications. Several of the genes involved in fusions (BRAF, EGFR, PDGFRB, RET, and ROS1) encode receptor tyrosine kinases (RTK), or ligands to the RTK EGFR (EGF, HBEGF, TGFA), suggesting a shared deregulation of the PI3K–AKT–mTOR pathway in a large subset of lipofibromatosis cases.

Deep Palmar Tumors of the Hand

Purpose: Tumorous conditions of the hand are frequently encountered by hand surgeons. Deep palmar tumors of the hand are very rare, reported cases were usually benign, but the most important issue is frequent anatomical variations with challenging surgical exposure and excision of these lesions. When we review the literature, only case reports or small series of patients were reported. The aim of this study was to demonstrate our experience with the deep palmar tumors of the hand. Materials and Methods: A multicenter retrospective analysis was designed. Medical records were reviewed with searching the database of two hospitals. Fifty-one cases were identified who were operated between the period of January 1998 to May 2015, and patients were invited for final examination. Forty-three patients who were available for the final follow-up examination were included in the study. All patients were evaluated with physical examination and preoperative magnetic resonance imaging (MRI) for surgical planning; x-ray studies were obtained if necessary. Recurrences were confirmed with physical examination and MRI. The analyzed parameters include age, gender, localization, preoperative symptoms, size, site, treatment methods, histopathologies, complications of surgery, and recurrences. Palmar space was divided in to five zones: thenar, carpal tunnel, hypothenar, distal radial, and distal ulnar. Statistical analyses were performed. Results: The mean age at the operation was 38.5 (9-83). Twenty-one (49%) male and 22 (51%) female participants were included in the study. Nineteen (44%) right and 24 (56%) left hands were involved. The most common preoperative symptom was enlarging mass in all patients (100%) followed by nerve compression in 24 patients (44%; 2 motor involvement at Guyon canal), functional impairment in 12 patients (28%), pain in 5 patients (12%), and pruritus in 1 patient (2.3%). The mean follow-up period was 56.7 months (12-168). All 43 pathologies were benign, and there were 10 lipomas (23.3%), 8 ganglions (18.6%), 5 giant cell tumor of the tendon sheath (11.6%), 4 schwannomas (9.3%), 3 hemangioma, 3 palmar fibromatosis, 2 epidermal cysts (4.6%), 2 neurofibroma (4.6%), 1 angiolymphoid hyperplasia with eosinophilia (ALHE) (2.3%), 1 granuloma, 1 calcifying aponeurotic fibroma (CAF), 1 digital fibroma, 1 foreign body granuloma, and 1 lipofibromatous hamartoma. The most common complication was temporary numbness, and paresthesias of the digital nerves were detected in 10 (23%). Only 3 (7%) recurrences (2 ganglions and a lipoma) were observed in the postoperative first year. Two cases were re-operated and one case with ganglion was refused reoperation and followed up with the recurrence. Iatrogenic arterial injury in 2 patients (4.6%) were primarily repaired intraoperatively, local tenderness in one patient (2.3%), weakness of fifth finger adduction in one patients, and stiffness of index finger in one patient. Conclusion: Updated knowledge and understanding nature and demographic characteristics of the tumorous conditions of the hand is crucial for an accurate diagnosis and appropriate treatment. In the deep palmar space of the hand, tumors usually occurs close relationship between tendons, muscles, nerves, and vascular structures. Preoperative MRI is essential for the diagnosis and the successful surgical planning.

FN1-EGF gene fusions are recurrent in calcifying aponeurotic fibroma.

Calcifying aponeurotic fibroma (CAF) is a soft tissue neoplasm with a predilection for the hands and feet in children and adolescents. Its molecular basis is unknown. We used chromosome banding analysis, fluorescence in situ hybridization (FISH), mRNA sequencing (RNA-seq), RT-PCR, and immunohistochemistry to characterize a series of CAFs. An insertion ins(2;4)(q35;q25q?) was identified in the index case. Fusion of the FN1 and EGF genes, mapping to the breakpoint regions on chromosomes 2 and 4, respectively, was detected by RNA-seq and confirmed by RT-PCR in the index case and two additional cases. FISH on five additional tumours identified FN1-EGF fusions in all cases. CAFs analysed by RT-PCR showed that FN1 exon 23, 27 or 42 was fused to EGF exon 17 or 19. High-level expression of the entire FN1 gene in CAF suggests that strong FN1 promoter activity drives inappropriate expression of the biologically active portion of EGF, which was detected immunohistochemically in 8/9 cases. The FN1-EGF fusion, which has not been observed in any other neoplasm, appears to be the main driver mutation in CAF. Although further functional studies are required to understand the exact pathogenesis of CAF, the composition of the chimera suggests an autocrine/paracrine mechanism of transformation. Copyright © 2015 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.

Calcifying aponeurotic fibroma of the finger in an elderly patient: CT and MRI findings with pathologic correlation.

Calcifying aponeurotic fibroma (CAF) is a rare, locally aggressive fibroblastic lesion that occurs predominantly in the distal extremities of children and adolescents. In the present study, a case of pathologically proven CAF arising in the right little finger of a 69-year-old woman is presented. Physical examination revealed a firm, immobile, non-tender mass. Plain radiographs showed a faintly calcified soft tissue mass without bone involvement and computed tomography scans clearly demonstrated the presence of the lesion. Magnetic resonance imaging revealed that the lesion exhibited low to intermediate signal intensity on T1-weighted images and heterogeneous high signal intensity with small foci of low signal intensity on T2-weighted spectral presaturation with inversion recovery images. Contrast-enhanced fat-suppressed T1-weighted images demonstrated intense heterogeneous enhancement throughout the mass. The patient underwent an excisional biopsy. Histologically, the tumor showed a biphasic pattern, composed of a moderately cellular fibromatosis-like component and irregular calcified areas with polygonal epithelioid cells. There has been no evidence of local recurrence four months following surgery. To the best of our knowledge, this case report describes the oldest patient with this condition.

Calcifying aponeurotic fibroma の 1 例

We report a case of calcifying aponeurotic fibroma (CAF), a rare benign soft-tissue tumor, arising in the left hip of a 6-year-old girl. Aspiration cytology showed benign-appearing spindle cells, cells with rich cytoplasm and round to oval nuclei including small nucleoli (chondroid cells), multinucleated giant cells, and calcified particles. These cytological findings correspond to histological CAF features. Cytological observation is thus useful in diagnosing CAF.

Calcifying (Juvenile) Aponeurotic Fibroma of the Scalp

Calcifying aponeurotic fibroma is a benign tumor with a predilection for distal parts of the extremities; it is very rare in the head and neck region. It commonly affects young patients-hence the term juvenile in the name. It is fibroblastic in origin and considered a cartilage analogue of fibromatosis, but its exact etiology remains unknown. Clinically, this tumor needs to be differentiated from fibromatosis, nodular fasciitis, chondroma, schwannoma, and rheumatoid nodule. A 24-year-old woman presented with swelling in the forehead for the previous 6 months. Wide surgical excision of the lesion was performed, and histopathologic examination revealed a calcifying aponeurotic fibroma. We reviewed the literature on this rare clinical entity and present our hypothesis on its etiology.

Unusual Presentation of a Rare Tumor of the Dorsal Surface of the Foot

Calcifying aponeurotic fibroma (CAF) was originally described by Keasbey in 1953 as juvenile aponeurotic fibroma, most commonly occurring in the palms of the hands and soles of the feet in children and adolescents. It usually presents as a firm, painless mass without preceding trauma. We report a case of this rare condition with an unusual presentation in a 60-year-old woman affecting the dorsal surface of the foot. It is a relatively benign condition with a good prognosis following complete surgical excision. It may have a slightly increased incidence in males. The accurate diagnosis is based only on histology but it is essential to differentiate it from other sinister lesions such as fibrosarcoma that may lead to amputation.

Giant intramuscular calcifying aponeurotic fibroma of gluteus maximus: case report

Calcifying aponeurotic fibroma (CAF) is a rare soft tissue tumour which occurs mainly in children and adolescents. It usually involves the distal portion of the extremities, i.e. the hands and feet. A 2-year-old child with a large CAF is presented. The case was unusual in view of its large size (10 × 7 × 5 cm), dense calcification in such a young child, and because it was situated in the substance of gluteus maximus muscle. There has been no recurrence at 3-year follow-up.

Calcifying aponeurotic fibroma with bone islands exhibiting hematopoiesis: a case report and review of the literature

Aponeurotic fibroma (AF) was originally described by Keasbey in 1953 as juvenile aponeurotic fibroma, most commonly occurring in the distal extremities. Initially described in children and adolescents, AF is now recognized to occur over a wide age range and at various anatomic sites. A variant of this lesion, termed calcifying aponeurotic fibroma (CAF) has been described. CAF is a slow-growing, solitary, and painless nodule often adherent to tendon, fascia, or periosteum. We report a patient who presented with a firm lobulated mass, portions of which were fixed to the left ascending mandibular ramus. The lesion represented a CAF arising juxtacortical to the mandible, with the calcified component composed of mature bone exhibiting focal areas of hematopoiesis. Additional reports of CAF occurring in the head and neck region are reviewed.

Infantile Fibrosarcoma Successfully Treated With Chemotherapy, With Occurrence of Calcifying Aponeurotic Fibroma and Pleomorphic/Spindled Celled Lipoma at the Site 12 Years Later

The treatment of infantile fibrosarcoma has traditionally been wide resection. Chemotherapy has been investigated as an adjuvant and primary treatment in cases in which surgery would cause unacceptable morbidity. Recurrences normally occur within a year of completion of the chemotherapy and display the same histology. We present a child with an infantile fibrosarcoma of the elbow, successfully treated with chemotherapy alone, who developed a calcifying aponeurotic fibroma and a spindle cell/pleomorphic lipoma at the tumor site 12 years later.

Acute Median-Nerve Compression Caused by Calcifying Aponeurotic Fibroma

38-yr-old female patient presented with right wristpain combined with numbness and a tingling sensation inthe sensory territory of the median nerve. The symptomshad occurred 3 mos previously and had rapidly progressedthereafter. Mild tenderness was noted on the volar aspect ofthe wrist. Tinel’s sign and the straight arm–raising test werepositive. Phalen’s test was difficult to perform because of herpain on wrist motion. Routine nerve-conduction studies in-dicated a mild degree of median-nerve neuropathy, whereasthe needle electromyograph findings were unremarkable.Inching test using TenElectrodes