Cases reported "Rare Diseases"

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1/13. Malignant giant cell tumor of soft parts.

    Giant cell tumor of soft parts (GCTSP) is an extremely rare lesion with an unpredictable behavior. Some patients are cured with a simple surgical excision whereas others will develop metastatic disease within a relatively short interval. To date, there are no consistently reliable criteria, either clinical or histologic, to separate the benign from more aggressive lesions. We describe the clinical, histologic and radiologic features of a case with malignant behavior. The patient presented with a fungating skin and soft tissue mass and concurrent pulmonary nodules. The lesion recurred rapidly despite wide resection with negative surgical margins. biopsy of the pulmonary lesions demonstrated metastatic disease.
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2/13. Symptomatic giant (10-cm) bone island of the tibia.

    A bone island represents a focus of mature compact bone within the cancellous bone, and it can be diagnosed based on characteristic clinical and radiologic features. The lesion is typically asymptomatic with a preference for the pelvis, femur, and other long bones. On radiographs, the lesion appears as an ovoid, round or oblong homogeneously dense and sclerotic focus in the cancellous bone. The characteristic features of this lesion are radiating bony streaks, known as thorny radiations or pseudopodia. Most bone islands are small, and the majority of these lesions measure from 0.1 to 2.0 cm. A giant bone island, defined as having a diameter greater than 2 cm, has been rarely reported in the English-language literature. We report here on a case of a giant bone island that measured 10 x 1.7 x 1 cm in the diaphysis of the right tibia in a 31-year-old man who complained of right lower leg pain for 3 weeks.
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3/13. Thrombosed giant intracavernous aneurysm with subsequent spontaneous ipsilateral carotid artery occlusion.

    We report a case of a 47-year-old man with a giant thrombosed aneurysm of the right cavernous internal carotid artery who initially presented with headache, double vision and trigeminal numbness. He experienced subsequent asymtomatic proximal occlusion of the parent vessel, revealed by follow-up angiography. This case illustrates the possibility that a giant thrombosed aneurysm may exert enough compression upon the parent vessel to induce flow stasis with resultant intraluminal thrombosis progressing to occlude the entire parent artery.
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4/13. Giant superficial basal cell carcinoma of the scrotum.

    The majority of basal cell carcinomas (BCCs) occur on sun-exposed areas. BCCs arising on the genitalia and ones over 5 cm in size are exceedingly rare. Most of the histopathologic subtypes of giant BCC are micronodular, morpheaform and nodular, but superficial subtype is rare. We reported a very rare case of a giant, scrotal superficial BCC. Scrotal carcinomas, the discovery of which is delayed, may become large. Because giant BCC is potentially life threatening, early diagnosis and adequate treatment are essential to prevent both recurrence and metastasis.
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5/13. Ichthyosiform mycosis fungoides: report of a case associated with IgA nephropathy.

    We report a case of ichthyosiform mycosis fungoides (MF) associated with IgA nephropathy. Histological examination showed a dense atypical lymphocytic infiltrate admixed with epithelioid cells and giant cells in the dermis associated with the features of epidermotropism and folliculotropism. Reported cases of ichthyosiform MF are reviewed and histopathological characters of ichthyosiform MF are summarized. We suggest a histiocyte/dendritic-cell-rich infiltrate, or granulomatous features of infiltrate may be another characteristic of ichthyosiform MF. This case was associated with IgA nephropathy, which is uncommon. Such a presentation has never been reported in the literature.
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6/13. An unusual presentation of giant cell arteritis.

    A 77-year-old-man with giant cell arteritis who developed bitemporal scalp ulcerations is described. Since 1946 when Cooke et al. reported the first case of scalp necrosis there were approximately 55 cases published. scalp ulceration is a rare complication of giant cell arteritis and occurs mainly in elderly persons, particularly women. About half of all patients were presented to dermatologists. Most of the patients (70%) had other serious complications of giant cell arteritis: blindness, gangrene of the tongue and nasal septum necrosis. Seventy percent of the cases were confirmed by a temporal artery biopsy. The necrosis were of varying extent and uni- or bilateral. Although, in most cases necrosis has been located bilaterally as in the presented case. scalp healing was complete nearly in all patients by conservative treatment within a year. scalp ulceration is a potentially reversible complication of giant cell arteritis which indicates extensive vessel involvement and adequate coricosteroid therapy is required and essential.
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7/13. Malignant peripheral nerve sheath tumour associated with von Recklinghausen's disease: case report.

    Only a few cases of malignant peripheral nerve sheath tumour (MPNST) associated with Von Recklinghausen's disease or type I neurofibromatosis (NF-1) have so far been reported worldwide, yet the primary disease (NF-I ) does not seem rare even in africa. We present a case of a 40 year old woman with MPNST of the left thigh associated with NF-1. The diagnosis was based on clinical, radiological and histopathological evidence. She presented with a 25 year history of painless, multiple, generalized skin nodules and hyperpigmented spots. She also noticed a gradually progressive, painless, redundant mass on the left side of the forehead 16 years prior to presentation. Four months before presentation, she noticed another mass at the back of the left thigh, which increased rapidly in size. Examination revealed a middle aged woman with generalized subcutaneous nodules of various sizes (3mm - 2.5cm), multiple cafe-au-lait spots (2cm-4.5cm), a plexiform neurofibroma on the left side of the forehead measuring 6cm x 5cm x 5cm. There was a firm, non-pulsatile and non-tender mass (11.5cm x 9cm x 5cm) on the posterior aspect of the left upper thigh. The mass was more mobile longitudinally than transversely and was attached to the overlying skin at the summit, the regional Iymph nodes were not enlarged. Most investigations were essentially normal except a plain radiograph, which revealed a soft tissue mass on the left thigh without bony involvement. At surgery, a well localized soft tissue tumour, abutting on the sciatic nerve was widely resected without neural damage to the nerve. Histologic sections of a tru cut as well as the surgical specimens showed a tumour consisting of closely packed serpentine cells arranged in palisades; marked nuclear and cellular pleomorphism and hyperchromatism, many bizarre tumour giant cells, mitotic figures and foci of necroses. The patient received six courses of cytotoxic therapy and is well eleven months after surgery. It is presented to highlight the clinical and pathological features of NF-1 complicated with malignant transformation.
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8/13. Giant stone in enterocystoplasty.

    A giant stone in enterocystoplasty is a very rare condition; only 5 cases have been reported in the literature. A 50-year-old female with an enterocystoplasty due to congenital myelomeningocele presented at our institution for an asymptomatic 10-cm bladder stone, incidentally detected during an imaging procedure for uterine fibroma. The patient was treated with a laparoscopic hysterectomy with bilateral annexectomy, neocystotomy and stone removal under general anesthesia. The case report and an accurate literature review are reported. The incidence, risk factors, pathophysiology and treatment options are analyzed.
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9/13. Giant cell myocarditis depicted by cardiac magnetic resonance imaging.

    Giant cell myocarditis is a rare condition, the cardiac magnetic resonance imaging findings of which have not been previously described. The disease usually occurs in young previously healthy people and is typified by rapidly progressive cardiac dysfunction, often requiring cardiac transplantation. A case of giant cell myocarditis is presented, with associated pathologic and imaging findings.
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10/13. Ruptured giant colonic diverticulum.

    Giant colonic diverticulum (GCD) is a rare complication of diverticular disease with less than 150 cases reported in the English literature. The clinical presentation ranges from asymptomatic to that of an acute abdomen. In most cases, giant colonic diverticulum is found in the sigmoid colon. The ideal treatment is elective resection of the sigmoid colon with primary anastomosis. When the diverticulum presents with perforation or obstruction, however, the treatment is a sigmoid colectomy with diverting colostomy (Hartmann procedure).
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