Cases reported "Rare Diseases"

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1/30. Familial anetoderma.

    A 31-year-old Caucasian male presented with a history of erythematous, saccular outpouchings of the skin on his back, shoulders, and upper extremities (Fig. 1). The patient reported that his mother and aunt had a similar skin disorder, which initially began with inflammation, but healed leaving lax skin in its wake. He did not recall the name of the skin condition. physical examination revealed large confluent zones of sac-like protrusions of erythematous skin on the back and shoulders. Histopathologic examination of the excisional biopsy revealed a relatively unremarkable epidermis. Perivascular lymphocytes were present in small numbers in the papillary dermis. Adnexal structures and deep dermis remained intact. The acid-orcein-Giemsa stain highlighted the absence of elastic fibers within the mid and lower reticular dermis (Fig. 2a,b), consistent with anetoderma.
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2/30. Retrorectal cyst: a rare tumor frequently misdiagnosed.

    BACKGROUND: The rarity of retrorectal cysts and their nonspecific clinical presentations often lead to misdiagnoses and inappropriate operations. In recent years, several such patients have been referred to our institutions for evaluation and treatment of misdiagnosed retrorectal cysts. A review of these patients is presented. STUDY DESIGN: medical records of the colorectal surgery divisions at two institutions were reviewed. patients found to have previously misdiagnosed retrorectal cysts were identified. Preliminary diagnoses, radiologic examinations, operative procedures, and final diagnoses were obtained. RESULTS: Seven patients with retrorectal cysts who had been misdiagnosed before referral were identified. These patients had been treated for fistulae in ano, pilonidal cysts, perianal abscesses; psychogenic, lower back, posttraumatic, or postpartum pain, and proctalgia fugax before the correct diagnosis was made. patients underwent an average of 4.1 operative procedures. physical examination in combination with CT scanning made the correct diagnosis in all patients. All patients underwent successful resection through a parasacrococcygeal approach, and six of seven did not require coccygectomy. The resected tumors included four hamartomas, two epidermoid cysts, and one enteric duplication cyst. CONCLUSIONS: Retrorectal cysts are a rare entity that can be difficult to diagnose without a high index of clinical suspicion. A history of multiple unsuccessful procedures should alert the clinician to the diagnosis of retrorectal cyst. Once suspected, the correct diagnosis can be made with physical examination and a CT scan before a definitive surgical procedure.
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3/30. Cystosarcoma phyllodes metastatic to the mandible: report of a rare case and literature review.

    Cystosarcoma phyllodes is a rare breast tumor with variable malignant potential. Metastasis has been reported in a small percentage of cases. We describe the case of a 52-year-old woman who developed a large facial tumor 1 year after she had undergone a mastectomy for a rapidly enlarging breast neoplasm. The facial lesion was found to be a malignant cystosarcoma phyllodes metastatic to the mandible, and the patient died shortly after diagnosis. To our knowledge, this patient represents only the third reported case of a phyllodes tumor metastatic to the mandible.
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4/30. An unusual case of generalized oedema.

    We present the case of a 66-year-old woman with generalized oedema and pain in the four limbs. physical examination revealed a diffuse, painful, partly pitting, oedema of forearms, hands, lower legs and feet. There were no signs of synovitis. Laboratory investigation was non relevant, except for mild eosinophilia, which normalized subsequently. Cardiac, nephrological and venous disturbances were excluded. More uncommon disorders, such as eosinophilic fasciitis, early stage of scleroderma and polymyositis were considered. MRI scanning of the right forearm revealed an increased signal intensity in the superficial muscle fibers and thickening of the fascia (figure 1). Subsequently a full thickness biopsy of the musculus flexor digitorum superficialis was performed, revealing an inflammatory infiltration of lymphocytes and eosinophils, localized in the fascia. There was no necrosis of muscle fibers. No signs of scleroderma were found. The biopsy confirmed the diagnosis of eosinophilic fasciitis. Clinical and MRI findings suggested an early stage of disease and the patient was treated with low-dose corticosteroids.
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5/30. Basaloid carcinoma of the lung presenting concurrently with cutaneous metastasis.

    Basaloid carcinoma of the lung is a rarely occurring form of lung cancer morphologically resembling the basal cell carcinoma of the skin. Although various histologic types of lung cancers have metastasized to the skin, basaloid carcinoma of the lung that shows cutaneous metastasis has yet to be reported. A 48-year-old man was admitted to our pulmonology department with mild dyspnea and a solitary cutaneous mass on the left portion of his chin. Chest radiography and computed tomography of the thorax revealed an irregular infiltrative mass confined to the central portion of the left lower lobe bronchus, which is a compatible finding of primary lung cancer. Microscopically, both a cutaneous mass and fine-needle aspirate material in the lung revealed the identical findings of basaloid morphologic patterns.
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6/30. Dercum's disease (adiposis dolorosa): a new case-report.

    Dercum's disease, or adiposa dolorosa, is a rare condition characterized by the development of multiple painful subcutaneous lipomas. Postmenopausal women are selectively affected. The ankle area is an uncommon site of involvement. We report a case with lipomas about the ankle, and we review the relevant literature. CASE-REPORT: This 46-year-old perimenopausal woman receiving follow-up for depression presented in December 1997 for swelling and mechanical pain in the right ankle. Lumps behind and under the malleoli were removed surgically and found to have the typical histological features of lipomas. In January 2000, a lump developed behind and under the malleoli of the left ankle, and the lumps on the right recurred. The physical examination showed obesity, with a body mass index of 32.04 kg/m(2). Firm, mobile, painless lumps were felt under and behind the malleoli on both sides. The ankles were painful, although range of motion was normal. Examination of the back found two similar lumps. The erythrocyte sedimentation rate was 10 mm/h and the c-reactive protein level was 6 mg/l. serum lipid levels were normal. Findings were normal from plain radiographs of the ankles. Ultrasound scanning of the ankles confirmed that the lumps were composed of adipose tissue. magnetic resonance imaging visualized an arc-shaped lipomatous mass on the left. Whole-body bone density measurement found an increase in fat mass of the lower limbs with normal bone mass. The ankle lipomas were removed surgically. At last follow-up 18 months later, she was free of recurrence. DISCUSSION: Dercum's disease is a rare condition of unknown etiology characterized by multiple, often painful lipomas. paresthesia in the overlying skin is common. Lipomas about the joints cause mechanical arthralgia. The diagnosis, which is often delayed, rests on ultrasonography and, above all, magnetic resonance imaging. A combination of medications, surgery, and psychiatric care is usually needed. The treatment aims at relieving the pain and restoring a normal appearance.
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7/30. Esophageal tuberculosis.

    Esophageal tuberculosis is a rare clinical entity even in adults. Esophageal tuberculosis, can be either primary or secondary, the former is less common as compared to the latter. The authors present a 14-year-old boy, who presented with vomiting, cough, low-grade fever and anorexia for two months. He had a positive mantoux with history of contact to tuberculosis. Upper GI scopy revealed an irregular ulcer in the mid esophagus and the biopsy was suggestive of tuberculosis. The CT scan of the chest showed consolidation left lower lobe with hilar and mediastinal adenopathy. He responded well to ATT.
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8/30. Traumatic anterior dislocation of the hip associated with ipsilateral femoral shaft fracture in a child: a case report.

    Traumatic anterior dislocation of the hip joint in children is rare, and only one case with ipsilateral femoral fracture has been reported in japan. We report a case of such dislocation and a review of the literature. The patient was a 31-month-old girl who was injured in a car accident while asleep on a tilted front passenger seat. Radiographic examination showed dislocation of the right obturator foramen and transverse fracture of the ipsilateral femoral shaft. The dislocation of the right hip was easily reduced without anaesthesia during radiography. We applied Bryant traction after reduction for 4 weeks, followed by cast application for 3 weeks. walking with support and full weightbearing were permitted 14 weeks and 16 weeks after the injury, respectively. radiography at 4.5 years after the injury showed a mildly enlarged right femoral head and femur overgrowth of approximately 8 mm. magnetic resonance imaging showed no evidence of suspected avascular necrosis of the femoral head. The patient has no subjective or objective symptoms, and is able to engage in all usual activities. The detailed mechanism of the injury is unknown. We assume that the lower leg was dislocated through abduction during flexion, or abducent, external flexion, considering that the child was sleeping at the time of the accident. Since she was hurled to the back seat, it was assumed that strong external force was vertically added to the femur, which caused the abducent force.
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9/30. Aggressive angiomyxoma of the vagina: a case report and review of the literature.

    Aggressive angiomyxoma (AA) is a rare mesenchymal tumor of the lower pelvis and genital region, characterized by local infiltration and frequent, even multiple recurrences. In the present paper a case of a small-sized AA of the vagina, in a 55-year-old woman is reported. We describe the histological appearance and the immunohistochemical phenotype of this tumor and discuss its differential diagnosis from other mesenchymal lesions occurring in the pelvic and genital region. Furthermore, we attempt to enlighten the possible mechanisms that govern the pathogenesis and the biological behavior of this "mysterious" neoplasm.
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10/30. Maxillary haemangiopericytoma: a case report.

    BACKGROUND: Haemangiopericytoma is a very rare slow-growing vascular tumour with a variable malignant potential, constituting less than 1% of all neoplasms. It may arise from any blood vessel and in any organ of the body. Primary haemangiopericytoma of bone is even rarer, constituting about 0.1% of bone tumours. The tumour is extremely rare in Africans and particularly in the head and neck region. STUDY DESIGN: We describe the case of a 66-year old Nigerian with haemangiopericytoma of the maxilla, who presented with a recurrent but painless jaw mass. RESULTS: Surgical resection of this tumour is potentially bedevilled with the risk of torrential haemorrhage and high rate of recurrence. This risk may be substantially reduced by wide surgical resection with a careful microscopical examination of the resection margins and the institution of adjuvant radiotherapy in incompletely resected tumours. Chemotherapy has no known role in the management of haemangiopericytoma. Postoperative radiation therapy appears to be effective against tumour recurrence. CONCLUSION: Even then, long-term follow-up is essential in all cases. To our knowledge, this is the first report of this entity in an African.
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keywords = jaw
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