ABSTRACT
Osteogenesis imperfecta (OI) is the most common inherited connective tissue disease of the bone, characterized by recurrent fractures and deformities. In patients displaying the OI phenotype, genotype-phenotype correlation is utilized to screen multiple genes swiftly, identify new variants, and differentiate between differential diagnoses and mild subtypes. This study evaluated variants identified through next-generation sequencing (NGS) in 58 patients with clinical characteristics indicative of OI. The cohort included 18 adults, 37 children, and 3 fetuses. Clinical classification revealed 25 patients as Type I, 3 patients as Type II, 18 as Type III, and ten as Type IV. Fifteen variants in the COL1A1 were detected in 19 patients, 9 variants in the COL1A2 (n=19), 5 variants in the LEPRE1/P3H1 (n=7), 3 variants in the FKBP10 (n=4), 3 variants in the SERPINH1 (n=2), 1 variant in the IFITM5 (n=1), and 1 variant in the PLS3 (n=1). In total, 37 variants (18 pathogenic, 14 likely pathogenic, and 5 VUS variants), including 16 novel variants, were identified in 43 (37 probands, 6 family members) of the 58 patients analyzed. Our study highlights the efficacy of panel testing in the molecular diagnosis of OI, the significance of the NGS technique, and the importance of genotype-phenotype correlation.
ABSTRACT
Osteoid osteoma is a benign tumor of the bone which tends to occur in diaphysis or metaphysis of the long bones. The lesion is generally intraosseous with vague clinical symptoms, hence given the name "great mimicker". When located subperiosteally and juxtaarticulary, atypical clinical presentation and radiological may lead to a delayed or missed diagnosis. Performing surgery with a misdiagnosis carries the risk of incomplete resection of the lesion and recurrence. We report the case of a 15-year-old male with a subperiosteal osteoid osteoma of the talus, who was misdiagnosed with pigmented villonodular synovitis and operated through anterior ankle arthrotomy. A nodular lesion 1 cm in diameter with hard rubber consistency was removed from the dorsal aspect of the talar neck. The pathological specimens were consistent with subperiosteal osteoid osteoma. The patient's symptoms resolved rapidly in the early postoperative period. The patient remained asymptomatic at the 20th-month follow-up and the control MRI revealed no signs of recurrence. Atypical radiological and clinical presentation of juxtaarticular subperiosteal osteoid osteomas cause misdiagnosis, delay in diagnosis, incomplete resection and recurrence. It is important to keep in mind "juxtaarticular subperiosteal osteoid osteoma" in the differential diagnosis of cases with suspected Pigmented Villonodular Synovitis.
ABSTRACT
OBJECTIVE: Although lipomatous tumors are the most common type of mesenchymal tumors in adults, they account for less than 10% of all soft tissue lesions in pediatric patients. In this descriptive study, we aim to present our series of pediatric lipomatous tumors consisting of lipoma, neural fibrolipoma, lipoblastoma, atypical lipomatous tumor, myxoid liposarcoma and pleomorphic liposarcoma, and to evaluate the clinicopathological characteristics of these tumors in reference to the literature. MATERIAL AND METHOD: In this study, pediatric lipomatous tumor cases diagnosed between 2002 and 2018 were screened from pathological archives and retrospectively evaluated. RESULTS: A total of 50 cases were diagnosed with lipomatous tumor within the mentioned period. Of the total cases, 24 were female (48%) and 26 were male (52%), with age distribution ranging from 1 to 204 months. Histopathological examination revealed lipoma in 26 cases (52%), lipoblastoma in 19 (38%), atypical lipomatous tumor in 2 (4%), myxoid liposarcoma in 2 (4%), and pleomorphic liposarcoma in 1 case (2%). CONCLUSION: Although lipomatous tumors are the most common type of mesenchymal tumors; they rarely occur in children. Since there is a limited number of studies on pediatric lipomatous tumors in the literature, there is insufficient data on the prevalence and incidence of these tumors. These tumors may slowly enlarge to greater sizes, especially those localized in deep tissues, and may cause various clinical symptoms by compressing surrounding tissues. Local recurrences may occur, even after total excision, and require close monitoring.
