1/12. Juvenile hyaline fibromatosis complicated with oral squamous cell carcinoma: a case report.A 45-year-old woman was referred because of swelling of the palate, gingival hypertrophy, and multiple cutaneous tumors. She had many cutaneous tumors, which covered most of her body, and she also displayed contractures of the major joints. Maxillary and mandibular gingival hypertrophy, malposition of the teeth, and swelling of the hard palate were the oral findings. The histopathologic features of the cutaneous and gingival tumors were consistent with hyaline fibromatosis, and the swelling of the palate proved to be a squamous cell carcinoma. The carcinoma was treated with tegafur/uracil and seemed to respond to this therapy.- - - - - - - - - - ranking = 1keywords = fibromatosis (Clic here for more details about this article) |
2/12. Juvenile hyaline fibromatosis.Juvenile hyaline fibromatosis (JHF) is a rare autosomal recessive disease with onset in infancy or early childhood. It is characterized by papulonodular skin lesions, soft tissue masses, gingival hypertrophy, and flexion contractures of the large joints. The light and electron microscopic features are very distinctive. Here we report an 8-month-old boy with characteristic stiffness of the knees and elbows and pink confluent papules on the paranasal folds, and periauricular and perianal regions. He also had hard nodules all over the scalp and around the mouth, and severe gingival hypertrophy. Histologic and ultrastructural features were typical of JHF. Clinical features, pathology, and physiology are discussed.- - - - - - - - - - ranking = 1keywords = fibromatosis (Clic here for more details about this article) |
3/12. Palmar fasciitis and arthritis syndrome associated with metastatic ovarian carcinoma: a report of four cases.Palmar fasciitis and polyarthritis syndrome (PFPAS) is an uncommon paraneoplastic syndrome associated with several malignant neoplasms. We identified 4 patients with PFPAS and ovarian carcinoma. Palmar fasciitis, at times severe, and inflammatory polyarthritis dominated the clinical presentation in all 4 patients. In 3 of our 4 patients the presentation of palmar fasciitis and inflammatory polyarthritis preceded the diagnosis of ovarian carcinoma. Magnetic resonance scanning and biopsy examination of palmar nodules in one patient revealed findings of inflammation and fibrosis. A literature review found 10 other cases of PFPAS associated with ovarian carcinoma. Improvement in palmar fasciitis and inflammatory arthritis often occurs after successful treatment of the ovarian carcinoma. Digital contractures, however, can persist. We recommend a gynecologic examination in any woman presenting with the sudden onset of unexplained hand pain, palmar inflammatory fasciitis, palmar fibromatosis, and digital contractures.- - - - - - - - - - ranking = 0.2keywords = fibromatosis (Clic here for more details about this article) |
4/12. Juvenile non-hyaline fibromatosis: juvenile hyaline fibromatosis without prominent hyaline changes.Juvenile hyaline fibromatosis (JHF) is a rare autosomal recessive disease of the connective tissue. It is characterized by papulonodular skin lesions, soft tissue masses, gingival hypertrophy, osteolytic bone lesions and flexion contractures of the large joints. Here, we report a 14-year-old girl with characteristic clinical features of JHF with early fatal outcome. Dermatopathologic examination of the early lesions however constantly lacked the so-called hyalin changes in multiple skin biopsies. According to our experience; dermatopathological features of this entity is not often and always consists of classical hyalinisation. Only larger lesions with long duration should expected to be exhibiting those features. Therefore we suggest that; JHF may often present itself as Juvenile Non-Hyaline Fibromatosis: JHF without prominent hyaline changes. And thus this fact should not change the actual diagnosis and prognostic implications.- - - - - - - - - - ranking = 1.8keywords = fibromatosis (Clic here for more details about this article) |
5/12. Juvenile hyaline fibromatosis: a case report.Juvenile hyaline fibromatosis ( JHF ) is a rare autosomal recessive disease characterized by papulonodular skin lesions, gingival hyperplasia, joint contractures, and bone lesions. The skin lesions may consist of multiple large tumors, commonly on the scalp and around the neck, and small pearly, pink papules and plaques on the trunk, chin, ears, and around the nostrils. Here, we report a 2-year-old boy with characteristic stiffness of the knees and elbows and pink confluent papules on the paranasal folds, and periauricular and perianal regions. He also had hard nodules all over the scalp and around the mouth, and severe gingival hyperplasia. The lesions were totally excised and clinicopathological diagnosis was JHF.- - - - - - - - - - ranking = 1keywords = fibromatosis (Clic here for more details about this article) |
6/12. A solitary calvarial lytic lesion with typical histopathological findings of juvenile hyaline fibromatosis.Juvenile hyaline fibromatosis (JHF) is a rare systemic disease characterized by papulonodular skin lesions, gingival hyperplasia, joint contractures, and osteolytic lesions on long bones and the skull. It has recently been reported that the disease is caused by mutations in the gene encoding capillary morphogenesis protein-2 (CMG-2). To date, fewer than 60 cases have been published in the literature. Partial disease expression is common, but no cases featuring a solitary calvarial lesion have been reported. The authors discuss this 4-year-old boy with a solitary calvarial osteolytic lesion whose histopathological examination exhibited findings characteristic of JHF. Mutational analysis, however, revealed that there were no mutations in the CMG-2 gene. Two years after surgery, he was free of any complaints as well as gingival hyperplasia, joint contractures, and new skull or skin lesions. This patient's condition may represent clinical or genetic heterogeneity associated with JHF. Whether solitary lesions mimicking JHF can arise from somatic mutation of the CMG-2 gene remains to be proven.- - - - - - - - - - ranking = 1keywords = fibromatosis (Clic here for more details about this article) |
7/12. Juvenile hyaline fibromatosis: a report of two severe cases.Two unrelated children with a severe form of juvenile hyaline fibromatosis are described. In addition to painful flexion contractures of all of the large joints, oral and skin lesions, and typical radiologic appearance of osteolytic defects, both girls had marked growth retardation and recurrent infections. Both children died in early infancy of overwhelming infection.- - - - - - - - - - ranking = 1keywords = fibromatosis (Clic here for more details about this article) |
8/12. Fibromatosis hyalinica multiplex (juvenile hyalin fibromatosis). light microscopic, electron microscopic, immunohistochemical, and biochemical findings.Fibromatosis hyalinica multiplex juvenilis (juvenile hyalin fibromatosis) is a very rare mesenchymal dysplasia, probably inherited as an autosomal-recessive trait. Two nonrelated cases are reported. Among the clinical features, the most impressive lesions are multiple slowly growing subcutaneous nodules, hypertrophic gingiva, flexural contractures with joint stiffness and radiolucent bone destructions. light microscopic examination of the nodules reveals tumor-like deposits of an amorphous hyaline ground substance with delicate staining properties situated partly between cellular and vascular areas. Ultrastructural characteristics are cystic, dilated rough endoplasmatic reticulum and cystic Golgi vesicles which contain a fine fibrillar material that is also found in the ground substance. Immunohistochemical examination shows collagen type i and type III in the hyaline material, but not type II and type IV. Quantitative biochemical investigation reveals a normal ratio of collagen types I and III.- - - - - - - - - - ranking = 1keywords = fibromatosis (Clic here for more details about this article) |
9/12. Infantile systemic hyalinosis: report of four cases of a disease, fatal in infancy, apparently different from juvenile systemic hyalinosis.Four female Mexican-American infants, two siblings, had widespread deposit of hyaline material in skin, gastrointestinal tract, adrenals, urinary bladder, ovaries, skeletal muscles, thymus, parathyroids, and other loci. Clinical features included thickness and focal nodularity of skin, relatively short limbs and neck, gum hypertrophy, hypotonia and reduced movement, joint contractures, osteoporosis, growth failure, diarrhea, and recurrent infections. Clinical onset was in the first week, and all 4 patients died by age 20 months. Infantile systemic hyalinosis appears to be a specific, presumably autosomal recessive, genetic disease, differing from the disorder called systemic hyalinosis, juvenile hyaline fibromatosis, or Puretic syndrome. The biochemical defect and the pathogenetic mechanisms responsible for the pathologic and clinical features of this condition remain to be established.- - - - - - - - - - ranking = 0.2keywords = fibromatosis (Clic here for more details about this article) |
10/12. Juvenile hyaline fibromatosis: two new patients and review of the literature.We report on a sister and a brother (born to normal consanguineous parents) with joint contractures and osteolytic lesions of bones. The sister had also gingival hyperplasia and skin lesions consisting of multiple tumors of the face, nose, palate, ears, and neck. Histologic examination showed findings of juvenile hyaline fibromatosis. The literature is reviewed, and 15 cases already reported are summarized.- - - - - - - - - - ranking = 1keywords = fibromatosis (Clic here for more details about this article) |
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