1/1768. Juvenile hyaline fibromatosis: clinical heterogeneity in three patients. BACKGROUND: Systemic hyalinoses are genetic generalized fibromatoses characterized by an accumulation of hyalin in the dermis. Two distinctive syndromes are recognized in the literature: infantile systemic hyalinosis (ISH) and juvenile hyaline fibromatosis (JHF). ISH and JHF are sometimes difficult to separate since they show significant overlap. OBSERVATIONS: We report on 3 children from two unrelated families suffering from JHF. The first child is severely handicapped by joint contracture, massive hyperplasia of the gingivae, diffuse skin papules and subcutaneous nodules occupying the scalp, face, perianal area, palms, soles and chest. At the same age, the second child only shows pearly skin papules on the face, groin and perianal area and gingival hyperplasia without joint stiffness or any other subjective complaint. The third patient, a brother of the second child, developed mild skin abnormalities by the end of the first year. The occurrence in siblings and consanguinity in the second family suggests autosomal recessive inheritance. Histological skin examination in the 3 cases showed hyaline deposition in the dermis and abnormal ultrastructure of fibroblasts. Biochemical findings showed mucopolysaccharide abnormalities in both families. CONCLUSION: Our patients do not only illustrate the different expressions of JHF but also show some overlap with ISH, suggesting a common cause for both disorders. Genetic studies will finally answer this question. ( info) |
2/1768. Pleomorphic sclerotic fibroma. We report the clinical and histologic features of 2 cutaneous tumors demonstrating many of the usual features of sclerotic fibroma, an entity that is well described in the literature. Our cases differed from the usual form of sclerotic fibroma in that they demonstrated marked focal cellular pleomorphism without increased mitotic activity. We suggest the term pleomorphic sclerotic fibroma for these lesions. ( info) |
3/1768. Systemic hyalinosis of delayed onset. We report a 46-year-old Japanese male with systemic hyalinosis. The condition had not been present during youth but was clearly evident in the patient's forties. The present case is remarkable because of a delayed onset. ( info) |
| Tumor-induced osteomalacia is due to renal phosphate wasting in response to a humoral factor produced by a tumor, usually a benign mesenchymal tumor. Removal of the tumor is followed by resolution of the metabolic disorder. physicians should be aware that sporadic renal phosphate wasting in an adult should prompt a search for a tumor. A case of tumor-induced osteomalacia due to a nonossifying fibroma of the radius is reported. After removal of the tumor, renal phosphate excretion returned to normal, but the patient developed tertiary hyperparathyroidism. Eight years elapsed between symptom onset and the diagnosis of the tumor. The pathogenesis of tumor-induced osteomalacia and the role of treatment for renal phosphate wasting on the subsequent development of hyperthyroidism are discussed. ( info) |
5/1768. Multiple endometrial stromal nodules with sparse cysts and glands in the lung--a nodular variation of endometriosis that may mimic metastases of sarcoma. We report an unusual case of a nodular variation of pulmonary endometriosis. To our knowledge, there is no previous report on a morphological investigation of this entity. The etiology of this rare condition is still a matter of discussion. The well-circumscribed nodular mass is composed of cells identical to, or closely resembling, those of endometrial stroma containing sparse cysts and glands. Immunohistochemically, the cells showed an extensive co-expression of cytokeratin AE1/AE3 and vimentin and were highly positive for progesterone receptor (PRICA) and estrogen receptor (ERICA). cells lining the cysts and glands as a monolayer were reactive for Ber-Ep4, cytokeratin Pan and cytokeratin AE1/AE3 and negative to all other markers used including PRICA and ERICA. The differential diagnosis of this entity included fibrous tumor of the pleura and metastatic low-grade-endometrial-stromal-sarcoma. The morphological findings are correlated with immunohistochemical studies and results of cell image analysis. This study details the clinicopathological features of the nodular variation of pulmonary endometriosis. ( info) |
6/1768. Hypoglycaemia associated with a solitary fibrous tumour of the pleura. We report the interesting case of an elderly woman who presented with hypoglycaemic episodes and weight loss. She was found to have a solitary fibrous tumour weighing more than 1.7 kg arising from the diaphragmatic pleura, which had been producing insulin-like growth factor ii. After surgical removal of this well-encapsulated, pedunculated tumour her hypoglycaemia resolved and she returned to normal both clinically and biochemically. ( info) |
7/1768. mitral valve repair for anterior leaflet papillary fibroelastoma: two case descriptions and a literature review. Cardiac papillary fibroelastomas are rare cardiac tumors and have been considered a 'benign' incidental finding that may have significant clinical manifestations. In this paper we report two cases of mitral valve fibroelastoma: one was discovered by chance with transthoracic echocardiography in a young healthy man, the other was an intraoperative incidental finding in a middle aged man with a recent history of acute myocardial infarction. The mitral valve was repaired in both cases after excising the tumor. The patients did well and remain asymptomatic. A literature review was compiled which comprises previous case reports of 34 patients with mitral valve papillary fibroelastomas. Most were asymptomatic, but when symptoms occurred, they could be disabling, such as stroke, cardiac heart failure, myocardial infarction, and sudden death. Papillary fibroelastoma is amenable to simple surgical excision or in addition to mitral valve repair or replacement. recurrence has not been reported. ( info) |
8/1768. Removal of benign tumors using the CO 2 laser. The CO 2 laser is most widely used for treatment of lesions affecting the oral mucosa. This paper concerns the use of CO 2 laser surgery in benign tumors. Thirty-seven cases of benign tumors were treated and two of them, a papilloma and a reactional fibroma, are described in detail. ( info) |
9/1768. birt-hogg-dube syndrome and Hornstein-Knickenberg syndrome are the same. Different sectioning technique as the cause of different histology. The autosomal dominant inherited syndromes of Hornstein and Knickenberg (HKS), and Birt, Hogg and Dube (BHDS) are both characterized clinically by the overall spread of multiple flesh coloured papules of the skin. However, it is a matter of debate if colonic neoplasms (adenomas as well as adenocarcinomas) are associated findings in the HKS or rather in the BHDS. Furthermore, histological differences are said to exist between the skin lesions in the two syndromes: whereas perifollicular fibromas were described in the HKS, fibrofolliculomas and trichodiscomas were found in the BHDS. In the present study, we report on a father and his daughter in whom we initially diagnosed a BHDS. We then examined a greater number of the papular lesions in histologic sections cut vertically as well as horizontally to the epidermis. Our results indicate that the histologic differences between the skin lesions in the two syndromes are artificial ones, caused by interpretation of different sectioning planes, and that consequently HKS and BHDS are the same. Therefore, it is necessary to look for colonic polyps in the syndrome in question, regardless if one prefers the name HKS or BHDS for it. ( info) |
10/1768. Meigs' syndrome with elevated CA125: case report and review of the literature. A 51-year-old woman presented with acute ascites and hydrothorax is reported. Pelvic ultrasound showed two pelvic solid masses and serum CA125 level was elevated (577 IU/ml). pathology revealed bilateral ovarian fibromas. We present this case of Meigs' syndrome and discuss its diagnostic problems and a review of the literature. ( info) |