Pedicled Abdominal Flaps for Hand Reconstruction in Adults: Physiotherapy of the Attached Hand.

Hand reconstruction using pedicled abdominal flaps has several disadvantages, including delayed hand therapy leading to stiffness. METHODS: This is a retrospective study of 70 cases of pedicled abdominal flaps used for hand reconstruction in adults in whom physiotherapy of the attached hand was implemented. The review aims to investigate the rate of flap dehiscence, infection, hematoma, and flap edge necrosis in our cases, and to establish that physiotherapy of the attached hand is not associated with an increased risk of complications. The review also aims to establish the effectiveness of physiotherapy of the attached hand in reducing the risk of stiffness by documenting the range of motion of the uninjured digits immediately after flap division and at final follow-up. RESULTS: There were no cases of flap dehiscence, infection, or hematoma. Six cases had minor partial flap edge necrosis that was treated conservatively and allowed to heal by secondary intention. In 62 patients, the range of motion of the uninjured digits was 90%-100% of the normal range of motion at day 1 post-flap division, and all of these patients recovered a full range of motion (in the uninjured digits) within 2 weeks of follow-up. Eight patients were reluctant to do the exercises as instructed because of low pain threshold; 4 of these 8 patients had residual stiffness at the final follow-up. CONCLUSION: The implementation of active exercises of the attached hand is feasible in selected cases and it helps minimize the risk of stiffness of the hand.

Mutation spectrum of EXT1 and EXT2 in the Saudi patients with hereditary multiple exostoses.

BACKGROUND: Hereditary Multiple Exostoses (HME), also known as Multiple Osteochondromas (MO) is a rare genetic disorder characterized by multiple benign cartilaginous bone tumors, which are caused by mutations in the genes for exostosin glycosyltransferase 1 (EXT1) and exostosin glycosyltransferase 2 (EXT2). The genetic defects have not been studied in the Saudi patients. AIM OF STUDY: We investigated mutation spectrum of EXT1 and EXT2 in 22 patients from 17 unrelated families. METHODS: Genomic DNA was extracted from peripheral leucocytes. The coding regions and intron-exon boundaries of both EXT1 and EXT2 genes were screened for mutations by PCR-sequencing analysis. Gross deletions were analyzed by MLPA analysis. RESULTS: EXT1 mutations were detected in 6 families (35%) and 3 were novel mutations: c.739G > T (p. E247*), c.1319delG (p.R440Lfs*4), and c.1786delA (p.S596Afs*25). EXT2 mutations were detected in 7 families (41%) and 3 were novel mutations: c.541delG (p.D181Ifs*89), c.583delG (p.G195Vfs*75), and a gross deletion of approximately 10 kb including promoter and exon 1. Five patients from different families had no family history and carried de novo mutations (29%, 5/17). No EXT1 and EXT2 mutations were found in the remaining four families. In total, EXT1 and EXT2 mutations were found in 77% (13/17) of Saudi HME patients. CONCLUSION: EXT1 and EXT2 mutations contribute significantly to the pathogenesis of HME in the Saudi population. In contrast to high mutation rate in EXT 1 (65%) and low mutation rate in EXT2 (25%) in other populations, the frequency of EXT2 mutations are much higher (41%) and comparable to that of EXT1 among Saudi patients. De novo mutations are also common and the six novel EXT1/EXT2 mutations further expands the mutation spectrum of HME.

Bone infarct transformation into undifferentiated pleomorphic sarcoma in sickle cell disease: A case report.

INTRODUCTION: Avascular necrosis of the bone is a very common finding in sickle cell disease (SCD). The malignant transformation of a pre-existing bone infarct is extremely rare, only few cases has been reported related to different etiologies one of which is SCD. PRESENTATION OF CASE: 40 years old male, known to have SCD, he presented as a case of avascular necrosis of the left proximal femur. Upon further investigations the lesion has transformed into undifferentiated pleomorphic sarcoma also known as Malignant Fibrous Histiocytoma (MFH). DISCUSSION: The exact mechanism of the malignant transformation of bone infarcts is not fully understood and yet to be investigated. Few cases were reported in literature of similar malignant transformation of a pre-exciting bone infarct and only one was linked to SCD. CONCLUSION: In reporting this case we hope that further cases worldwide will be reported. A high index of suspicion should be present when encountering bone infarct lesion with an unusual course.

Synovial sarcoma presenting as an intra-articular mass in a pediatric patient: a case report.

BACKGROUND: Synovial sarcoma (SS) is one of the reported sarcomas in the pediatric and adult populations. Delay in diagnosis and treatment is common in SS cases. SS may be excised before the correct diagnosis is made. CASE PRESENTATION: we present a case involving a 4-year-old boy who visited our service with complaints of left knee pain and limited knee flexion. Initially, the child was diagnosed with osteochondromatosis. Surgical excision was opted, and initial histopathological examination revealed a fibrous histiocytoma. The slide and blocks were then brought to the King Faisal Specialist Hospital Research Center (KFSH&RC) and histopathologic analysis has shown a well-circumscribed nodule in the synovium with a sub-synovial monomorphic spindle cell sarcoma, confirmed by fluorescence in situ hybridization (FISH). CONCLUSIONS: Therefore, we strongly recommend considering all differential diagnoses for soft-tissue masses when planning surgical management.

Coverage of complex defects of the shoulder girdle and posterior neck triangle following tumor resection.

INTRODUCTION: Numerous pedicle and free flaps have been used to cover complex defects of the shoulder girdle and posterior neck triangle following tumor resection. We describe our choice of flap selection in these patients with case examples. PRESENTATION OF CASES: Three cases examples demonstrate our choice of flap selection. In the first case, an anterior shoulder girdle defect is covered by an anteriorly transposed latissimus dorsi muscle flap. The second case demonstrates the coverage of a posterior shoulder girdle defect by a posteriorly transposed latissimus dorsi muscle flap. Finally, the third case demonstrates the coverage of a posterior triangle neck defect using a superiorly transposed pectoralis major muscle flap. All reconstructions utilize muscle flaps (covered by split-thickness skin grafts) and not myocutaneous flaps. DISCUSSION: We demonstrate that these two pedicle muscle flaps are adequate for coverage of large complex defects of the shoulder girdle and posterior neck triangle. We also demonstrate the advantages of using muscle rather than myocutaneous flaps. CONCLUSION: Pedicle latissimus dorsi and pectoralis major muscle flaps are simpler and preferred over free flaps for coverage of complex defects of the shoulder girdle and posterior neck triangle. The use of muscle rather than myocutaneous flaps will reduce the size of the original defect, make flap design easier and reduce donor site morbidity.

Chondrosarcoma of the scapula: long-term oncologic outcome.

BACKGROUND: Chondrosarcoma is the second most common primary sarcoma of bone. It often develops within flat bones, such as the pelvis, ribs, and scapula. In the current study, the authors reviewed the surgical experience and long-term oncologic outcomes of patients with chondrosarcoma arising in the scapula. METHODS: The medical records of 29 consecutive patients with chondrosarcoma of the scapula were reviewed. The patients were treated between 1954 and 1994. All patients had localized disease at the time of presentation. The tumors were classified histologically as Grade 1 (10 patients), Grade 2 (10 patients), Grade 3 (7 patients), dedifferentiated (1 patient), and mesenchymal (1 patient) (using the criteria of Evans et al.). The mean maximal dimension of the tumors was 11 cm. Twenty-five patients underwent limb-sparing surgical resection and 4 patients underwent forequarter amputations. The median follow-up was 13 years (range, 1-35 years). RESULTS: At last follow-up, 22 patients (76%) were free of disease and 7 patients (24%) had died of their disease. Local recurrence occurred in 4 patients at 7 months, 16 months, 40 months, and 43 months, respectively. The local recurrence-free survival rate was 86% at 5 years, 10 years, and 20 years. Disease-specific survival was 83% at 5 years, 74% at 10 years, and 74% at 20 years. Patients who had low-grade chondrosarcomas had better survival compared with patients who had high-grade chondrosarcomas (P = 0.07). CONCLUSIONS: Patients who had localized chondrosarcoma of the scapula had a favorable long-term outcome, most likely due to the unique anatomic features that improved the likelihood of achieving wide surgical margins with limb-sparing surgery, despite the frequent presentation of locally advanced disease.