1/11. Juvenile hyaline fibromatosis: a case report.Juvenile hyaline fibromatosis (JHF) is a rare disease with autosomal recessive inheritance. It is characterized by papulonodular skin lesions which are painless but cosmetically unacceptable, and often disturb normal joint function. The nose, chin, ears, scalp, back, and knees are the most common affected sites. In some cases, gingival hypertrophy, flexion contractures of the large joints, osteolytic bone lesions, and stunted growth may be associated with skin lesions. We report a 9-year-old girl presented with a soft, painless, slow growing, tumoral mass on the supratip of her nose. The lesion was totally excised with open rhinoplasty approach and histopathological diagnosis was JHF.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
2/11. Extra-abdominal fibromatosis: a case report.head and neck fibromatosis is a rare disease with a variable clinical picture. We report the case of a 40-year-old woman who had a 1-week history of a painless mass overlying her right neck. histology confirmed a diagnosis of extra-abdominal fibromatosis. Two unusual features of this case were the site of the lesion and its rapid growth. In this article, we discuss the clinical picture of head and neck fibromatosis, its etiology and pathology, and current opinion regarding its treatment.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
3/11. Bilateral ovarian fibromatosis presenting with ascites and hirsutism.BACKGROUND: Ovarian fibromatosis is a very rare nonneoplastic disease. Due to the rarity and atypical clinical presentations, they may give rise to a misdiagnosis of malignancy and unnecessary extensive surgical interventions. literature lacks definitive data about this rare disease and its preoperative evaluations. MRI together with the intraoperative frozen section may help us to define the benign nature of the disease. In this report, we aimed to review the literature and give a highlight to the gynecologic oncologists about this rare disease. CASE history: A 19-year-old female patient admitted to our hospital with the complaints of menstrual irregularity, hirsutism, and increased abdominal girth. physical examination revealed bilateral ovarian mass, hirsutism, and ascites. serum CA-125 levels were slightly elevated. Preoperative MRI study showed bilateral hypointense lobulated ovarian masses. With the initial diagnosis of ovarian tumor, we performed explorative laparotomy and excised both masses. Final pathology was reported as bilateral ovarian fibromatosis. CONCLUSION: Ovarian fibromatosis commonly presents with ascites and solid pelvic mass and can be misdiagnosed as a malignant ovarian tumor. In young patients, clinicians should consider ovarian fibromatosis in differential diagnosis of pelvic mass. Preoperative MRI findings and intraoperative frozen examination may be used to avoid unnecessary aggressive surgical management.- - - - - - - - - - ranking = 2keywords = rare disease (Clic here for more details about this article) |
4/11. Mesenteric fibromatosis in a patient with Camurati-Engelmann disease. A case report and literature review.Mesenteric fibromatosis is a rare type of desmoid tumor characterized by local aggressiveness and a tendency to relapse. In view of these characteristics it may be considered a low-grade fibrosarcoma. Camurati-Engelmann disease is a very rare form of bone dysplasia characterized by osteosclerosis of the diaphyses of the long bones. Here we describe the case of a male patient affected by these two rare diseases in association with chronic inflammatory intestinal disease.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
5/11. Calcifying aponeurotic fibroma of the knee: A case report with radiological findings.Calcifying aponeurotic fibroma is a rare type of benign tumor that occurs most commonly in the distal extremities of young children. Due to its infiltrative growth, it has a high tendency of recurrence. Although the clinicopathological features of over 100 cases of this rare disease have been reported, its clinical and radiological features have yet to be described in detail. We present a case of calcifying aponeurotic fibroma of the knee from birth with radiological images, that demonstrate the peculiar features of this uncommon benign tumor and discuss its clinicopathological features based on computed tomography and magnetic resonance images.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
6/11. Desmoplastic fibroma: report of a case with proliferative myositis.Desmoid tumor of the mandible, or desmoplastic fibroma, is a rare disease with only a few cases reported in the literature. This paper presents the rare case of an elderly male with desmoplastic fibroma of the mandible with an uncommon accompanying proliferative myositis. The case is discussed with emphasis on the clinical presentation, differential diagnosis and treatment of this lesion.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
7/11. Major malformations in a case of infantile myofibromatosis.A case of infantile myofibromatosis associated with oesophageal atresia, annular pancreas, additional sacral vertebra and hypoplatic right kidney in a male neonate is reported. The possibility of associated malformations in this rare disease is outlined.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
8/11. Calcifying aponeurotic fibroma: a report of three cases.Calcifying (juvenile) aponeurotic fibroma (CAF) is a rare disease entity characterized by a tendency to develop in the palms and soles of children and young adults. It has definite histologic features of an ill-circumscribed fibroblastic proliferation, with foci of calcification and chondroid differentiation, as well as a recurring or locally aggressive growth pattern. The commonly accepted mode of treatment is wide excision of the tumor; extensive surgery is usually not necessary even for recurrences. Three cases are reported, all of when were female with the age ranging from 8 to 27 years. All lesions were in the hand or foot, and one of them was recurrent. Immunohistochemical study was performed and the literature reviewed.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
9/11. Congenital generalized fibromatosis: a case report with roentgen manifestations of the skeleton.Congenital generalized fibromatosis is a rare disease. Since the features were described in 1954, 23 cases have been mentioned in the literature. 4 cases that had been reported before that time may retrospectively be said to belong to this syndrome. Congenital generalized fibromatosis resembles clinically as well as roentgenologically neurofibromatosis and may therefore be classified as a hamartomatosis, although the histological distinction of the congenital fibrosarcoma may sometimes be difficult. In this case report, a young patient is described with clinical, roentgenological and histological features of congenital generalized fibromatosis.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
10/11. Solitary intestinal fibromatosis mimicking malabsorption syndromes.A 17-month-old baby had symptoms of malabsorption and partial intestinal obstruction. These were found to be caused by obliteration of the jejunum by solitary intestinal fibromatosis. Solitary intestinal fibromatosis, which may imitate malabsorptive diseases of the intestine, is a rare cause of intestinal obstruction in the neonatal period and infancy. Diagnostic aids and differential diagnosis of this rare disease are discussed, and previously reported cases are reviewed.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
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