-
Diagnostic Pathology Mar 2024Tuberous sclerosis complex (TSC) is a rare, complex genetic disorder characterized by hamartomas and neoplastic lesions in various organ systems. With the development of... (Review)
Review
BACKGROUND
Tuberous sclerosis complex (TSC) is a rare, complex genetic disorder characterized by hamartomas and neoplastic lesions in various organ systems. With the development of radiology and gene testing, the diagnostic criteria for TSC were updated in 2012 at the International Consensus Conference. Intraoral fibromas have long been associated with TSC. However, the incidence of giant cell angiofibroma (GCA) in TSC patients is extremely rare. Here, we report the first case of GCA in the gingival tissue of a patient with TSC.
CASE PRESENTATION
A 41-year-old woman first visited the Department of Oral and Maxillofacial Surgery, Chonnam National University Dental Hospital, complaining of gingival enlargement. Clinical examination revealed several manifestations associated with TSC, including intraoral fibromas, facial angiofibromas, dental enamel pits, ungual fibromas, "confetti" skin lesions, hypomelanotic macules, and a shagreen patch. Intraoral examination revealed a 6.0 × 5.0 cm gingival overgrowth on the left mandible. Surgical excision was performed, and subsequent histopathological examination confirmed the diagnosis of GCA. There was no evidence of recurrence within the 24- months of surgery.
CONCLUSIONS
We report the first case of GCA in the gingival tissue of a patient with TSC. This report would contribute to an improved understanding of this rare disease. However, further case reports are necessary to clarify the relationship between GCA and TSC.
Topics: Female; Humans; Adult; Tuberous Sclerosis; Angiofibroma; Gingiva; Fibroma; Giant Cells
PubMed: 38459589
DOI: 10.1186/s13000-024-01467-4 -
Cureus Feb 2024Osteosarcoma is primarily a long-bone disease that rarely affects the facial bones. Chondroblastic osteosarcoma is a subvariant of osteosarcoma. Its defining...
Osteosarcoma is primarily a long-bone disease that rarely affects the facial bones. Chondroblastic osteosarcoma is a subvariant of osteosarcoma. Its defining characteristics include the presence of malignant spindle and polygonal cells, as well as a thick layer of chondroid matrix and interwoven neoplastic tissue deposition. Mandibular chondroblastic osteosarcoma, in particular, is often overlooked and disregarded as a presumptive diagnosis at the time of initial presentation. This is mainly because of its rarity or inadequate lesion evaluation. Here, we present the case of a 47-year-old female patient with a rapidly growing swelling at the anterior mandible that was initially misdiagnosed as an ossifying fibroma of the mandible. The subsequent histopathological examination confirmed the diagnosis of chondroblastic osteosarcoma of the mandible. The patient requested a more extensive and aggressive excision, with the possibility of adjuvant radiation or chemotherapy. This article illustrates a rare case of mandibular chondroblastic osteosarcoma, with a focus on the clinical and pathological features of the tumor that should be taken into account when making a differential diagnosis for oral bone lesions.
PubMed: 38455794
DOI: 10.7759/cureus.53713 -
Turkish Archives of Pediatrics Mar 2024Although Gorlin syndrome has rich skin findings, there is limited information about their subtypes, features specific to this genodermatosis, and relationships with each...
OBJECTIVE
Although Gorlin syndrome has rich skin findings, there is limited information about their subtypes, features specific to this genodermatosis, and relationships with each other.
MATERIALS AND METHODS
The demographic characteristics as well as cutaneous and extracutaneous findings of consecutive Gorlin syndrome patients diagnosed during 23 years were evaluated retrospectively. The relationship between palmoplantar pitting and basal cell carcinoma (BCC) in this localization and the relationship between odontogenic keratocysts (OKCs) and epidermoid cysts were investigated.
RESULTS
A total of 30 patients were diagnosed with Gorlin syndrome of whom 36.7% were children. BCC was the most common finding (90%) followed by OKCs (83.3%), skeletal system anomalies (76.7%), and palmoplantar pitting (76.7%). While classical BCC (63.3%) lesions were the predominant clinical subtype among all patients, acrochordon-like or small-sized papular BCCs were seen in 45.4% of pediatric patients. Three patients, 2 of whom were children, had BCC lesions in the palmoplantar region in association with palmoplantar pitting. Epidermoid cysts presenting clinically as solitary (n = 12) or a few nodules (n = 4) without punctum, located more commonly in acral areas (n = 10) were seen in 16 (53.3%) patients of whom 7 were children. Epidermoid cysts were seen in 60% of patients with OKCs, and the relationship between epidermoid cysts and OKCs was not statistically significant (P = .15). Extracutaneous tumors such as medulloblastoma (n = 3), cardiac fibroma (n = 1), and ameloblastoma (n = 1) were also recorded.
CONCLUSION
The awareness of papular or acrochordon-like BCCs, palmoplantar BCCs, and acral epidermoid cysts without punctum may facilitate early diagnosis of Gorlin syndrome in children.
PubMed: 38454226
DOI: 10.5152/TurkArchPediatr.2024.23231 -
Pathology, Research and Practice Apr 2024Ovarian fibromas are benign tumors that can present peculiar morphological features not studied sufficiently.
BACKGROUND
Ovarian fibromas are benign tumors that can present peculiar morphological features not studied sufficiently.
MATERIAL AND METHODS
In this retrospective study, 75 consecutive cases of ovarian fibroma were morphologically compared with 46 thecomas, 16 granulosa cell tumors, and 5 sclerosing stroma tumors for the following factors: the growth pattern as diffuse or nodular, the presence of hyaline plaques, necrosis, keloid-like sclerosis, calcifications, cystic degeneration, fibrous or edematous stroma, prominent vascularity, lutein cells, cellularity, scant or abundant cytoplasm, prominent cell membranes, nuclear grooves, atypia, and mitotic activity.
RESULTS
The tumors differed significantly in terms of hyaline plaques presence, nuclear grooves, growth pattern, stroma type, tumor cellularity, cytoplasm, prominence of cell membranes, atypia, mitotic activity, and prominent vascularity.
CONCLUSION
Ovarian fibromas can present some maybe unexpected features rather frequently, such as cystic degeneration, hyaline plaques, prominent vascularity, increased cellularity, and some mitotic activity, thus their presence should not always prompt to an alternative diagnosis.
Topics: Female; Humans; Thecoma; Granulosa Cell Tumor; Retrospective Studies; Ovarian Neoplasms; Sex Cord-Gonadal Stromal Tumors; Fibroma
PubMed: 38447489
DOI: 10.1016/j.prp.2024.155236 -
Journal of Stomatology, Oral and... Feb 2024Desmoplastic fibroma (DF) is a rare benign bone tumor adopting an aggressive behavior, representing a challenge for clinical and radiographic diagnosis. This case report...
Desmoplastic fibroma (DF) is a rare benign bone tumor adopting an aggressive behavior, representing a challenge for clinical and radiographic diagnosis. This case report focused on a 31-year-old man with a large mandibular lesion with severe displacements of the mandibular teeth. Only a combination of paraclinical findings allows a definitive diagnosis to be made. Cervicofacial MRI revealed a low T1 signal intensity with peripheral enhancement after Gadolinium, and T2 hyperintense signal, while PET scan showed a moderate metabolism. Bone biopsy with immunohistochemical analysis allowed for definitive diagnosis of DF after eliminating the main differential diagnosis (fibrous dysplasia, fibrosarcoma, desmoid tumor, and osteosarcoma). The patient was successfully treated by large mandibular resection and reconstruction with a free-fibular bone flap".
PubMed: 38431083
DOI: 10.1016/j.jormas.2024.101805 -
The Kaohsiung Journal of Medical... May 2024
Topics: Humans; Mesentery; Male; Female; Tomography, X-Ray Computed; Fibromatosis, Abdominal; Fibroma; Peritoneal Neoplasms; Middle Aged
PubMed: 38426273
DOI: 10.1002/kjm2.12817 -
Actas Dermo-sifiliograficas May 2024
Topics: Humans; Lasers, Gas; Male; Fingers; Laser Therapy; Fibroma
PubMed: 38423504
DOI: 10.1016/j.ad.2024.02.022 -
World Journal of Clinical Cases Feb 2024The most common causes of scrotal enlargement in patients include primary tumor of the scrotum, inflammation, hydrocele of the tunica vaginalis, and indirect inguinal...
BACKGROUND
The most common causes of scrotal enlargement in patients include primary tumor of the scrotum, inflammation, hydrocele of the tunica vaginalis, and indirect inguinal hernia; scrotal enlargement caused by external tumors of the scrotum is rare. The patient had both a greater omentum tumor and an inguinal hernia, and the tumor protruded into the scrotum through the hernia sac, which is even rarer. Moreover, omental tumors are mostly metastatic, and primary omental fibroma is rare.
CASE SUMMARY
Here, we report a rare case of a 25-year-old young man with scrotal enlargement and pain for 3 months. Preoperative examination and multidisciplinary discussions considered intra-abdominal tumor displacement and inguinal hernia, and intraoperative exploration confirmed that the greater omentum tumor protruded into the scrotum. Therefore, tumor resection and tension-free inguinal hernia repair were performed. The final diagnosis was benign fibroma of the greater omentum accompanied by an indirect inguinal hernia.
CONCLUSION
This unusual presentation of a common inguinal hernia disease illustrates the necessity of performing detailed history taking, physical examination, and imaging before surgery.
PubMed: 38414599
DOI: 10.12998/wjcc.v12.i5.988 -
Frontiers in Neurology 2024Preoperative imaging for some unusual lesions in the sellar region can pose challenges in establishing a definitive diagnosis, impacting treatment strategies.
BACKGROUND
Preoperative imaging for some unusual lesions in the sellar region can pose challenges in establishing a definitive diagnosis, impacting treatment strategies.
METHODS
This study is a retrospective analysis of eight cases involving unusual sellar region lesions, all treated with endoscopic endonasal transsphenoidal surgery (EETS). We present the clinical, endocrine, and radiological characteristics, along with the outcomes of these cases.
RESULTS
Among the eight cases, the lesions were identified as follows: Solitary fibrous tumor (SFT) in one case, Lymphocytic hypophysitis (LYH) in one case, Cavernous sinus hemangiomas (CSH) in one case, Ossifying fibroma (OF) in two cases; Sphenoid sinus mucocele (SSM) in one case, Pituitary abscess (PA) in two cases. All patients underwent successful EETS, and their diagnoses were confirmed through pathological examination. Postoperatively, all patients had uneventful recoveries without occurrences of diabetes insipidus or visual impairment.
CONCLUSION
Our study retrospectively analyzed eight unusual lesions of the sellar region. Some lesions exhibit specific imaging characteristics and clinical details that can aid in preoperative diagnosis and inform treatment strategies for these unusual sellar diseases.
PubMed: 38414554
DOI: 10.3389/fneur.2024.1309691 -
Journal of Pediatric Hematology/oncology Apr 2024The plexiform fibromyxoma is a rare mesenchymal tumor in adults that generally originates in the antrum of stomach, being its occurrence in pediatric patients...
The plexiform fibromyxoma is a rare mesenchymal tumor in adults that generally originates in the antrum of stomach, being its occurrence in pediatric patients exceptional. It was classified as a distinct entity by World Health Organization in 2010. No recurrences and metastases have been documented in many of the reported patients to date, being the surgical treatment curative. We report the case of a 3-month-old infant who presented to the emergency department with an episode of intestinal subocclusion requiring an emergent surgery. During the surgical intervention, a mass was identified in the jejunum, causing partial occlusion of its lumen. The surgical pathology report revealed an infiltrative tumor composed of spindle-shaped cells disposed in a stroma with a plexiform pattern alternating myxoid areas. These findings and the immunohistochemical characteristics of the neoplastic cells led to classify the tumor as a plexiform fibromyxoma. A description of the immunophenotype of this tumor is made and differential diagnosis with other gastrointestinal tumors is also discussed.
Topics: Humans; Infant; Fibroma; Soft Tissue Neoplasms; Stomach Neoplasms
PubMed: 38408159
DOI: 10.1097/MPH.0000000000002833