1/16. Minicore myopathy in children: a clinical and histopathological study of 19 cases.Minicore myopathy is a congenital myopathy characterized by multifocal areas of degeneration in muscle fibres. genetic heterogeneity expected on the basis of clinical variability awaits further resolution. We reviewed 19 cases in order to further delineate the phenotype. Marked hypotonia was the predominant presenting feature, with evidence of antenatal onset in 30% of cases. Weakness was most pronounced axially and proximally, often more severely affecting the shoulder girdle. Mild facial involvement was frequent. Varying degrees of scoliosis were obvious in all patients older than 10 years. In addition, two patients who were also the most severely affected had complete external ophthalmoplegia. One patient showed marked distal involvement. Respiratory failure developed in half of all patients after 10 years of age and correlated strongly with the degree of scoliosis. Cardiac involvement occurred mainly secondary to respiratory impairment. The course appeared static in most cases. Loss of independent walking was observed only in one case at the age of 10 years. On ultrasound scan, differential involvement within the quadriceps was documented in several patients. Variability in fibre size, type 1 predominance and atrophy with occasional type 2 hypertrophy were prominent but nonspecific histological changes. Apart from typical minicores, a marked increase in internal nuclei was the most prominent histological feature. With the exception of one family in which two generations were affected, inheritance appeared autosomal-recessive or sporadic in all cases.- - - - - - - - - - ranking = 1keywords = hypertrophy (Clic here for more details about this article) |
2/16. 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 = 3976.2940497274keywords = gingival hypertrophy, hypertrophy, gingival (Clic here for more details about this article) |
3/16. Congenital isolated upper limb hypertrophy with hand abnormality--a report of 2 cases.Two cases of congenital isolated hypertrophy of the left upper limb with different hand deformities are described. A 4-year-old girl had splayed fingers and an abducted thumb due to anomalous muscles. Excision of these muscles corrected the deformity. The other, an 8-year-old boy, had severe ulnar drift of the fingers (windblown-like hand). He had corrective osteotomies of the second and third metarcarpals and reconstruction of the collateral ligaments. The deformity was corrected and at the latest follow up there was with no recurrence of the deviation. Both cases regained good hand function.- - - - - - - - - - ranking = 5keywords = hypertrophy (Clic here for more details about this article) |
4/16. 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 = 3975.8445117063keywords = gingival hypertrophy, hypertrophy, gingival (Clic here for more details about this article) |
5/16. Skeletal muscle involvement in infantile systemic hyalinosis.Infantile Systemic Hyalinosis is a rare autosomal recessive entity, characterised by deposition of hyaline material in skin and bone, often complicated by visceral involvement. The characteristic features are marked delay in motor milestones attributed to severe progressive flexion contractures of proximal and distal joints, and skin and mucosal hypertrophy and thickening, followed by failure to thrive. pain secondary to osteolytic lesions is also a predominant feature. We report a patient with Infantile Systemic Hyalinosis, confirmed by the clinical findings, who also displayed clear evidence of proximal muscle weakness. Muscle biopsy revealed myopathic changes, which have not been reported previously. We suggest that skeletal muscle is involved in Infantile Systemic Hyalinosis and contributes to the characteristic poor outcome of these patients.- - - - - - - - - - ranking = 1keywords = hypertrophy (Clic here for more details about this article) |
6/16. Progressive multilayered banded skin in Winchester syndrome.Winchester syndrome is a rare genetic disorder, one of the inherited osteolysis disorders which are a group of diseases characterized by destruction and resorption of affected bones with consequent skeletal deformities and functional impairment. The syndrome is characterized by dissolution of carpal and tarsal bones with generalized osteoporosis, progressive joint contractures, short stature, peripheral corneal opacities, and coarse facial features, though there is variability within the clinical features. Phenotypic heterogeneity of cutaneous features are also reported to date of diffusely thickened leathery skin, hypertrichosis, patches of hyperpigmented, hypertrichotic leathery skin in annular or linear distribution, widespread acne, subcutaneous nodules, and gingival hypertrophy. We describe widespread progressive multilayered symmetrical restrictive banding of the skin developing in a woman with Winchester syndrome during her mid-twenties.- - - - - - - - - - ranking = 1987.9222558531keywords = gingival hypertrophy, hypertrophy, gingival (Clic here for more details about this article) |
7/16. 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 = 1987.9222558531keywords = gingival hypertrophy, hypertrophy, gingival (Clic here for more details about this article) |
8/16. 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 = 0.89907604215432keywords = gingival (Clic here for more details about this article) |
9/16. 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 = 0.89907604215432keywords = gingival (Clic here for more details about this article) |
10/16. 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 = 1keywords = hypertrophy (Clic here for more details about this article) |
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