Sonographically guided core needle biopsy is accurate and safe, obviating open biopsy in most soft tissue masses and bone tumors with extraosseous masses in the appendicular skeleton. In such patients, the sonographically guided procedure is the most prompt and effective method for obtaining tissue samples.
Cherubism is an autosomal-dominant syndrome characterized by excessive bilateral maxillomandibular bony degeneration followed by fibrous tissue hyperplasia. Eight patients (age, 6-15 years; mean, 11 years) with severe cherubism were treated with a 2-stage operation by the same senior surgeon (C.M.R.-A.) over an 18-year period, 1987 through 2005. Severity was based on a modified Motamedi classification system. The diagnosis was established clinically, radiographically, and histologically. Postoperative follow up ranged from 2 to 18 years (mean, 5.1 years). All patients underwent 2-stage surgical treatment. In the first stage, the anterior wall of the maxilla was osteotomized and removed (n = 5). The cherubic lesion was curetted from the maxilla and orbits. The maxilla was recontoured on the back table and then fixed orthotopically with wires. Alternatively, cortical bone windows were created, the maxillary and orbital lesions were curetted, and the maxilla was infractured and recontoured in situ with manual pressure (n = 3). Six months after the maxillary/orbital procedure, all patients underwent second-stage curettage and recontouring of the mandible using bony access windows and manual infracture. Satisfactory esthetic results were achieved in all patients. The patients remained clinically and radiographically disease-free throughout the follow-up period. The most profoundly affected patient sustained bilateral lower eyelid ectropion that resolved with full-thickness skin grafting. Although cherubism tends to abate by the fourth decade of life, early 2-stage surgical curettage provides a simple and reliable treatment that not only delivers immediate results, but also seems to arrest the growth of any remaining cherubic tissue.
Evaluation of the real risk of development of gonadal tumors in TS patients with Y-derivative sequences in their chromosomal constitution may require a specific histopathological study, such as immunohistochemistry with OCT4.
HLA-G is expressed in skin biopsies from patients with SSc, and this is associated with a better disease prognosis. This suggests a modulatory role of HLA-G in SSc, as observed in other skin disorders.
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