-
Cureus Jul 2023Although osteochondromas are the most common benign tumors in the skeleton, calcaneal osteochondromas are very rare. New onset of pain or rapid growth of the tumor,...
Although osteochondromas are the most common benign tumors in the skeleton, calcaneal osteochondromas are very rare. New onset of pain or rapid growth of the tumor, especially after the closure of the epiphyseal growth plate, might reflect malignant transformation. However, enlargement of solitary osteochondromas reported as benign in a skeletally mature patient is present in the literature. We report the clinical and radiologic findings of a calcaneal osteochondroma with an extremely rare placement and painful rapid growth causing limited ambulation in a 27-year-old male. After surgical removal of the tumor, histologic examination demonstrated no evidence of malignancy, and there was no recurrence during the three-year follow-up.
PubMed: 37637637
DOI: 10.7759/cureus.42570 -
German Medical Science : GMS E-journal 2023Fibrodysplasia ossificans progressiva (FOP) is an autosomal dominant rare disease characterized by foot deformities and concomitant heterotopic ossifications....
Fibrodysplasia ossificans progressiva (FOP) is an autosomal dominant rare disease characterized by foot deformities and concomitant heterotopic ossifications. Theoretically, in the absence of early diagnosis and medication, the patient's outcome will be poor. The patients are usually diagnosed at an early age. Hence, encountering a non-treated and terminal-period patient is rare. Our case was unique because it showed the clinical picture and atypical radiological distribution of a 20-year-old, terminally ill untreated female patient. She had hallux valgus, heterotopic ossifications and multiple osteochondromas that were detected in the right clavicula, the posterior arch of the 9 rib, the bilateral tibia and fibula. Atypically, heterotopic ossifications were not present in the soft tissues of the neck. Hand deformity, cardiac anomaly, or mental retardation was not observed. It was a sporadic case. The presentation with neurological symptoms was also atypical.
Topics: Humans; Female; Young Adult; Adult; Myositis Ossificans; Arthrogryposis; Bunion; Clavicle; Clonal Hematopoiesis
PubMed: 37599859
DOI: 10.3205/000326 -
Journal of Comparative Pathology Aug 2023Feline osteochondromatosis is a spontaneous osteocartilaginous exostosis associated with feline leukaemia virus (FeLV) infection or due to a frameshift variant in the...
Feline osteochondromatosis is a spontaneous osteocartilaginous exostosis associated with feline leukaemia virus (FeLV) infection or due to a frameshift variant in the exostosin glycosyltransferase 1 (EXT1) gene. Osteochondromatosis was diagnosed in an indoor-only, 12-year-old, neutered female, Russian Blue cat. Radiographs revealed bilateral calcified proliferations in the elbow, costochondral and sternochondral joints, which distorted the normal skeletal structure. Grossly, the proliferated joints presented with consistent, rounded masses, causing complete ankylosis. The main histopathological finding was an osteocartilaginous proliferation composed of multiple irregular islands of well-differentiated hyaline cartilage surrounded and delimited by osteoid tissue. Immunohistochemistry of the osteochondromas, bone marrow and mediastinal lymph nodes, using a primary anti-FeLV gp70 antibody, and FeLV proviral DNA real-time polymerase chain reaction on bone marrow were negative. Sequencing of exon 6 of the EXT1 gene was performed and nucleotide BLAST analysis demonstrated the absence of a frameshift variant. This study reports the only case of spontaneous feline osteochondromatosis in an animal more than 10 years old.
Topics: Female; Cats; Animals; Leukemia Virus, Feline; Osteochondromatosis; Leukemia, Feline; Exons; Ankylosis; Cat Diseases
PubMed: 37597496
DOI: 10.1016/j.jcpa.2023.07.003 -
Cureus Jul 2023Defective repair of DNA when heterozygous leads to Lynch syndrome (LS) which is inherited in an autosomal dominant fashion. When homozygous, defective repair of DNA...
Defective repair of DNA when heterozygous leads to Lynch syndrome (LS) which is inherited in an autosomal dominant fashion. When homozygous, defective repair of DNA leads to constitutional mismatch repair deficiency syndrome (CMMRD), inherited in an autosomal recessive fashion with a predisposition to develop a pattern of childhood malignancies including hematological and solid cancers. We report such a case of a 21-year-old male who developed anaplastic astrocytoma, Burkitt lymphoma, osteochondroma, and colon cancer successively. Each cancer was treated successfully except for colon cancer which developed liver metastasis after the initial treatment with curative intent. However, the patient has been treated for liver metastasis with curative intent and is currently on follow-up. This case report highlights the importance of maintaining a low threshold for investigating CMMRD and other potential cancer predisposition syndromes when a patient presents with multiple cancers in the early years of their life.
PubMed: 37581139
DOI: 10.7759/cureus.41870 -
Journal of Clinical Medicine Aug 2023As authors of the text, we can only thank Mattei et al. [...].
Reply to Mattei et al. Jacob Disease, Osteochondroma of the Coronoid Process, Coronoid Process Hyperplasia or Langenbeck Disease: The Big Jumble. Comment on "Raccampo et al. Jacob's Disease: Case Series, Extensive Literature Review and Classification Proposal. 2023, , 938".
As authors of the text, we can only thank Mattei et al. [...].
PubMed: 37568520
DOI: 10.3390/jcm12155118 -
Journal of Clinical Medicine Aug 2023(1) Background: Osteochondromas are the most common benign bone tumors, primarily found in long bones, while scapular osteochondromas are rare and account for less than...
(1) Background: Osteochondromas are the most common benign bone tumors, primarily found in long bones, while scapular osteochondromas are rare and account for less than 1% of all osteochondromas. (2) Methods: We present a case of a young female patient with a unique presentation of scapular osteochondroma. The patient exhibited superomedial scapula angle osteochondroma with winging, a rare manifestation of scapular osteochondroma. The patient had a slow-growing mass on the left scapula for several years. Physical examination revealed a visible deformity with significant winging of the scapula. Imaging studies demonstrated a large osteochondroma arising from the superomedial angle of the left scapula, with a bony stalk. (3) Results: Surgical excision was performed, and histopathological analysis confirmed the diagnosis of osteochondroma. Following the surgery, the patient experienced a significant improvement in scapular winging. A comprehensive literature review revealed only a limited number of reported cases of scapular osteochondroma with winging, underscoring the significance of this case report as a valuable addition to the existing literature. The diagnosis of scapular osteochondroma should be considered in the differential diagnosis of patients presenting with a scapular mass, particularly when associated with winging. Surgical excision is the recommended treatment, and complete excision is crucial to prevent recurrence. (4) Conclusions: This case report highlights a rare presentation of scapular osteochondroma with winging and emphasizes the importance of considering this diagnosis in patients with scapular masses accompanied by winging. The successful surgical intervention in our case resulted in significant improvement. Clinicians should be aware of this entity and consider prompt surgical intervention for complete excision, ensuring optimal patient outcomes and preventing recurrence. Further research and additional case reports are necessary to enhance our understanding of scapular osteochondroma and its varied clinical presentations. Furthermore, comprehensive studies involving larger patient cohorts are necessary to explore the full spectrum of clinical presentations of scapular osteochondromas. By documenting and analyzing a wider range of cases, including variations in tumor location, size, and associated symptoms, researchers can identify patterns and establish more accurate diagnostic criteria. This will facilitate early detection and appropriate management of scapular osteochondromas, ultimately improving patient outcomes.
PubMed: 37568508
DOI: 10.3390/jcm12155106 -
Journal of Clinical Medicine Jul 2023We read the article by Raccampo et al., about Jacob disease and their ambiguous definition of the condition [...].
Jacob Disease, Osteochondroma of the Coronoid Process, Coronoid Process Hyperplasia or Langenbeck Disease: The Big Jumble. Comment on Raccampo et al. Jacob's Disease: Case Series, Extensive Literature Review and Classification Proposal. 2023, , 938.
We read the article by Raccampo et al., about Jacob disease and their ambiguous definition of the condition [...].
PubMed: 37568368
DOI: 10.3390/jcm12154966 -
Clinical Case Reports Aug 2023Osteochondromas (OCs) are developmental anomalies that originate from the periosteum and typically form during enchondral ossification near the joints. Retro-patellar OC...
Osteochondromas (OCs) are developmental anomalies that originate from the periosteum and typically form during enchondral ossification near the joints. Retro-patellar OC caused by exostosis forms in various intracapsular, intra-tendon, and joint-adjacent positions within the knee joint. In this case, a 19-year-old male presented with swelling and a mass in his left knee, which raised suspicion of bone tumors. After evaluating x-ray images and conducting histopathological examinations, the diagnosis was confirmed as retro-patellar OC.
PubMed: 37529130
DOI: 10.1002/ccr3.7751 -
Molecular Genetics & Genomic Medicine Nov 2023To analyze the clinical data and genetic characteristics of Noonan syndrome, both the effect and side effects of recombinant human growth hormone (rhGH) treatment.
OBJECTIVE
To analyze the clinical data and genetic characteristics of Noonan syndrome, both the effect and side effects of recombinant human growth hormone (rhGH) treatment.
METHODS
We collected clinical data from 8 children with Noonan syndrome diagnosed from November 2017 to June 2021. The diagnosis was clarified by exome second-generation sequencing and parental PCR-NGS validation and interpretation of the preceding evidence, and growth hormone therapy was administered. Of the cases, four males and four females were seen for slow height growth and the median age at diagnosis was 8 years 7 months (1 year 7 months to 12 years 6 months).
RESULTS
Here, 7 children were treated with rhGH. Compared to the pre-treatment period, the growth rate increased after rhGH treatment [3.7 ± 0.5 cm/year before treatment and 8.0 ± 1.0 cm/year after treatment, p < 0.01], with the maximum growth rate between 3 and 6 months of treatment and decreasing with the duration of treatment thereafter. The growth hormone treatment was discontinued and the orthopedic consultation was ordered with regular follow-up, which was considered to be related to the PTPN11 mutation.
CONCLUSION
Noonan syndrome is characterized by slow growth, short stature, mental retardation, peculiar facial features, structural heart abnormalities and abnormal bone metabolism. and osteochondroma was found after case 2 rhGH treatment. Genetic examination is mostly caused by PTPN11 mutation. It is recommended to pay attention to bone metabolism abnormalities before growth hormone treatment, especially in children with PTPN11 mutations.
Topics: Child; Male; Female; Humans; Noonan Syndrome; Human Growth Hormone; Genetic Testing; Recombinant Proteins; Mutation; Protein Tyrosine Phosphatase, Non-Receptor Type 11
PubMed: 37525886
DOI: 10.1002/mgg3.2266