-
Oxford Medical Case Reports Aug 2023Desmoplastic fibroma (DF) is an aggressive benign tumor that commonly affects long tubular bones. Also, the skull, mandible, pelvis and spine involvement have been...
Desmoplastic fibroma (DF) is an aggressive benign tumor that commonly affects long tubular bones. Also, the skull, mandible, pelvis and spine involvement have been reported. However, its occurrence in the scapula is extremely rare. In this case report, we present the challenging diagnosis and successful treatment of DF in a 27-year-old woman who had been experiencing worsening pain in her right shoulder for 5 years. Plain radiographs and magnetic resonance imaging revealed a lucent, trabeculated and expansile infiltrative lesion, disrupting the posterior cortex and extended to the posterior soft tissue. After ruling out malignancy through a core needle biopsy, the patient underwent wide surgical resection of the tumor, which involved a hemi-scapulectomy. And histologic diagnosis consistent with DF, no postoperative radiation was administered. Remarkably, the patient became pain-free just 2 weeks after surgery. Follow-up examinations, X-rays and computed tomography scans conducted 6 weeks, 6 months and 18 months after surgery revealed no signs of recurrence.
PubMed: 37637370
DOI: 10.1093/omcr/omad057 -
Cureus Jul 2023Desmoplastic fibroma (DF) is a rare, benign, yet locally aggressive bone tumor. It frequently affects the facial bones, and the mandible is the most commonly affected...
Desmoplastic fibroma (DF) is a rare, benign, yet locally aggressive bone tumor. It frequently affects the facial bones, and the mandible is the most commonly affected site. Treatment of choice is the removal of the tumor with resection of surrounding bone due to its aggressive behavior. We report a case of DF where the tumor showed resolution and almost complete bone deposition following enucleation. Although DF has a high recurrence rate, the patient remains disease-free 31 months post-surgery.
PubMed: 37602060
DOI: 10.7759/cureus.42213 -
Case Reports in Oncology 2023Desmoplastic fibroma is a rare primary benign bone tumour that typically affects the long bones, mandible, and pelvis. It has a similar local aggressiveness to soft...
Desmoplastic fibroma is a rare primary benign bone tumour that typically affects the long bones, mandible, and pelvis. It has a similar local aggressiveness to soft tissue fibromatosis. It rarely involves the small bones of the hand. We describe an extremely rare case of desmoplastic fibroma of the proximal phalanx of the hand in a patient who presented with an aggressively enlarging but painless mass on the left ring finger. Radiological features suggested malignancy; however, an initial biopsy revealed fibrotic tissue. Trans-metacarpal amputation of the ring and little fingers and soft tissue reconstruction were performed using a local ulnar-based flap of the little finger. The final histopathological evaluation revealed desmoplastic fibroma. Aggressively growing masses in the hand should be treated according to a sarcoma management protocol, and desmoplastic fibroma should be included in the differential diagnosis.
PubMed: 37485013
DOI: 10.1159/000529895 -
Pediatric and Developmental Pathology :... 2023Evaluation of bone pathology within the head and neck region, particularly the gnathic bonesis is complex, demonstrating unique pathologic processes. In part, this... (Review)
Review
Evaluation of bone pathology within the head and neck region, particularly the gnathic bonesis is complex, demonstrating unique pathologic processes. In part, this variation is due to odontogenesis and the embryological cells that may be involved, which can contribute to disease development and histologic variability. As with any boney pathosis, the key is to have clinical correlation, particularly with radiographic imaging prior to establishing a definitive diagnosis. This review will cover those entities that have a predilection for the pediatric population, and while it is not all inclusive, it should serve as a foundation for the pathologist who is evaluating bony lesions involving the craniofacial skeleton.
Topics: Humans; Child; Bone and Bones; Neck; Neoplasms; Odontogenic Tumors
PubMed: 37232383
DOI: 10.1177/10935266231170744 -
Child's Nervous System : ChNS :... Sep 2023Gorlin-Goltz syndrome is a rare autosomal dominant disorder resulting from PTCH1 gene mutation and presents with variable clinical manifestations. The co-occurrence of...
BACKGROUND
Gorlin-Goltz syndrome is a rare autosomal dominant disorder resulting from PTCH1 gene mutation and presents with variable clinical manifestations. The co-occurrence of medulloblastoma and cardiac fibroma in Gorlin-Goltz syndrome is extremely rare. The present article discusses a patient diagnosed with Gorlin-Goltz syndrome and concurrent medulloblastoma and cardiac fibroma.
CASE PRESENTATION
A 19-month-old boy transferred to our hospital after a radiological finding of posterior fossa lesion and hydrocephalus. A pericardial mass was noted after persistent arrhythmias. Both tumors were excised for definitive management. The histopathological sections were diagnostic of desmoplastic nodular medulloblastoma, WHO grade 4 and cardiac fibroma. Molecular and genetic investigations confirmed a pathogenic variant of PTCH1 gene, suggestive of autosomal dominant Gorlin-Goltz syndrome.
CONCLUSION
Co-occurrence of medulloblastoma and cardiac fibroma is extremely rare and poses a management dilemma. Genetic counseling and antenatal screening are of utmost importance to early detect and manage patients with Gorlin-Goltz syndrome.
Topics: Pregnancy; Male; Humans; Female; Infant; Basal Cell Nevus Syndrome; Medulloblastoma; Fibroma; Cerebellar Neoplasms
PubMed: 37160435
DOI: 10.1007/s00381-023-05970-9