Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0027960 (mole)
 21,279 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Oculodermal melanocytosis (nevus of Ota) is an abnormally large accumulation of pigment in ocular tissues as well as the skin in the distribution of the trigeminal nerve. Elevated intraocular pressure is a serious complication of this disease, as well as transformation to malignant melanoma. We report a case of nevus of Ota, documented clinically and histopathologically, associated with severe chronic glaucoma.
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PMID:[Nevus of Ota associated with chronic glaucoma]. 958 92

The authors give an account of their experience with the treatment of secondary glaucoma in children with Sturge-Weber's syndrome, followed up on a long-term basis (mean follow up period 6 years). Sixteen eyes of 13 children, mean age 10.5 years during the last check-up were treated: four eyes by medicamentous treatment, 12 eyes were operated. A total of 27 operations were performed: 13x cyclocryocoagulation, 11x trabeculectomy and including peroperative administration of 5-fluorouracil in 3 cases, 2x trabeculotomy and 1x laser trabeculoplasty. The criterium of therapeutic success is an intraocular pressure < or = 21 torr and a concomitant drop of the tension by at least 30% and absence of progression on the papilla or perimeter. In the whole group glaucoma is compensated in 11 eyes (68.8%). The most frequent complication was choroid ablation after filtration surgery (6x). It developed practically only in older children. In two patients bilateral glaucoma was observed despite unilateral naevus flammeus. Therefore it is necessary to check always both eyes.
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PMID:[Personal experience in treatment of glaucoma in children with the Sturge-Weber syndrome]. 962 44

A 14-year-old male adolescent with ocular melanocytosis and secondary glaucoma in the left eye had a 2-year history of a progressively enlarging fundus lesion. Ocular examination revealed diffuse hyperpigmentation of the episclera and a smooth velvety thickening and hyperpigmentation of the left iris. Ophthalmoscopy disclosed diffuse choroidal pigmentation and a pigmented mass that occupied the macular area and surrounded the optic nerve. Ultrasonography showed an acoustically hollow lesion with scleral bowing and choroidal excavation. Based on clinical and ultrasonographic findings, the diagnosis was choroidal melanoma in a young patient with ocular melanocytosis. The eye was enucleated. Histopathologic examination revealed ocular melanocytosis with diffuse uveal melanocytosis and amelanotic malignant melanoma of the choroid. The choroidal melanoma apparently arose from a preexisting choroidal nevus. Even young patients with ocular melanocytosis should have regular follow-up examinations for early detection of uveal melanoma.
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PMID:Choroidal melanoma in a 14-year-old patient with ocular melanocytosis. 971 96

Self-catalyzed poly(ortho esters) are a new variation of linear poly(ortho esters) prepared by the addition of diols to the diketene acetal 3,9-diethylidene-2,4,8,10-tetraoxaspiro[5,5]undecane where dimer segments of lactic acid or glycolic acid are built into the polymer backbone. By varying the concentration of these segments, polymer erosion rate can be controlled. The present investigation describes the in vitro drug release characteristics from these new polymers. Because poly(ortho esters) have potential applications for the delivery of antifibroblastic agents for example after glaucoma-filtering surgery, the in vitro release studies were evaluated using 5-fluorouracil as the active compound. It was shown that a mole ratio of 90/10 or 80/20 diol/diol-lactate incorporated into the polymer lead to a release of 5-fluorouracil by an erosion process. Smaller amounts of diol-lactate lead to a concomitant drug release by diffusion and erosion. It was also shown that the release rate depends on the alkyl chain length of the diol in the polymer backbone but it does not depend on the drug loading.
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PMID:In vitro drug release from self-catalyzed poly(ortho ester): case study of 5-fluorouracil. 979 63

Sturge-Weber syndrome is characterized by a facial vascular nevus associated with an ipsilateral leptomeningeal angioma. Variants of this classical presentation have been described in the literature, some of which have prognostic significance. We report a magnetic resonance imaging (MRI)-confirmed variant of a leptomeningeal angioma contralateral to the facial nevus. We describe one patient with Sturge-Weber syndrome who presented with a left-sided facial nevus, left eye glaucoma, episodes of left-sided weakness, and right-sided leptomeningeal angiomatosis by gadolinium-enhanced brain MRI. The literature regarding variants of Sturge-Weber syndrome and their prognosis is reviewed. The prognosis for this variant is likely similar to Sturge-Weber syndrome with an ipsilateral leptomeningeal angioma.
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PMID:Left-sided facial nevus with contralateral leptomeningeal angiomatosis in a child with Sturge-Weber syndrome: case report. 1276 Apr 37

We report an unusual case of encephalotrigeminal angiomatosis in which the facial and oral angioma was bilateral, and several teeth were congenitally absent. The developmental nature of the anomaly is reviewed. Encephalotrigeminal angiomatosis is commonly referred to as the Sturge-Weber syndrome, after Sturge and Weber who first described this affliction in 1879. The main clinical features of this syndrome are 1. venous angiomatosis of the leptomeninges of the cerebral-cortex, usually unilaterally 2. ipsilateral facial angiomatosis that often follows in outline the distribution of the trigeminal nerve (Fig 1) 3. ipsilateral gyriform calcification of the cerebral cortex 4. epileptic convulsions (contralateral focus) or other seizures 5. ocular defects (choroidal angioma, glaucoma hemianopia) 6. mental retardation 7. contralateral hemiplegia 8. obesity 9. oral mucosal and gingival involvement. Other less typical features are 1. association with hypomelanosis of 1 to 10 2. leptomeningeal angioma contralateral to the facial nevus 3. leptomeningeal angioma without facial vascular naevus 4. association with gastro intestinal hemorrhage 5. paranasal sinus enlargement. This syndrome that affects males and females equally, is a rare congenital disorder, apparently hamartomatous in nature, from persistence of a primitive embryonal vascular plexus. During the sixth week of intra-uterine life this plexus develops around the cephalic portion of the neural tube and under the ectoderm in the region destined to become facial skin. In the Sturge-Weber syndrome, the vascular plexus fails to regress, as is normal during the ninth week, resulting in angiomatosis of the related tissues. Variation in the degree of persistence or regression of the vascular plexus accounts for unilaterality or bilaterality of involvement, and also for an incomplete syndrome in which the leptomeninges, but not the facial tissues are affected. Leptomeningeal angiomatosis is the primary abnormality of encephalotrigeminal angiomatosis, all other features of the syndrome probably being secondary to this. Calcification of the cortex is a poorly understood phenomenon which may result from stasis of blood in the angioma, associated with altered local metabolism. Epilepsy and other neurological seizures, and mental retardation are probably, in their turn, secondary to the cortical calcification. The most striking clinical feature of the Sturge-Weber syndrome is the facial vascular naevus which generally follows the distribution of innervation of one or more divisions of the trigeminal nerve, whence the term encephalotrigeminal angiomatosis. However, the naevus may be more extensive, down the neck and even onto the chest. The oral tissues underlying the affected facial tissues are invariably also angiomatous and may be considerably enlarged as a result. Alterations in eruption of teeth have also been noted. Histologically, affected soft tissues are very vascular, resembling a pyogenic granuloma or a capillary, or cavernous hemangioma. Yukna, Cassingham and Carr noted that affected bone was partially replaced by a delicate fibrous tissue containing thin-walled vascular spaces. Neither inflammatory cells, nor fatty or haemopoietic marrow was noted.
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PMID:Encephalotrigeminal angiomatosis. 1496 51

Sturge-Weber syndrome (SWS) is a phakomatosis characterized by vascular nevus flammeus, leptomeningeal venous angiomatosis, seizures, dementia, hemiplegia, hemianopsia, and glaucoma. Various imaging findings (gyriform calcification, atrophy of the ipsilateral hemisphere, leptomeningeal enhancement, ipsilateral choroid plexus enlargement, thickened calvarium, enlargement of paranasal sinuses and mastoid air cells, enlargement of deep veins, and white matter change adjacent to leptomeningeal enhancement) are seen in SWS. We examined the efficacy of CT and MR imaging in making the diagnosis in 14 patients. All patients underwent CT and MRI, and 11 of 14 patients underwent contrast-enhanced MRI. The most specific finding was leptomeningeal enhancement. Gyriform calcification, atrophy of the ipsilateral hemisphere, and ipsilateral chroid plexus enlargement were seen at high frequencies. Thickened calvarium was more frequent in adult patients. Enlargement of paranasal sinuses and mastoid air cells, enlargement of deep veins, and white matter change adjacent to leptomeningeal enhancement were seen in some (3-5) patients. A combination of findings of plain CT and MRI (including postcontrast MRI and MR venography) are useful for diagnosing SWS.
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PMID:[Imaging of Sturge-Weber syndrome: cranial CT and MR findings]. 1521 82

The iridocorneal endothelial syndrome (ICE) consists of some disorders, like: progressive essential iris atrophy, Chandler disease and the iris nevus syndrome that are characterized by corneal endothelium proliferation and migration, iris atrophy, corneal oedema and/or pigmentary iris nevi. Secondary, refractory glaucoma affects about 50% of patients with progressive essential iris atrophy. Medication of glaucoma is only initially effective. Some conventional filtering surgeries, to control glaucoma are often unsuccessful. Presented case of our patient with primary essential iris atrophy, with secondary glaucoma shows surgical problems. Multiple filtration surgery with or without antiproliferative agents turn out not to be sufficient. In conclusion, intraocular pressure was effectively lowered with iridocleisis technique.
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PMID:[Secondary glaucoma due to progressive iris atrophy--a century after the first description. Case report]. 1521 72

The iridocorneal endothelial (ICE) syndrome includes progressive essential iris atrophy, the Cogan-Reese syndrome, Chandler's syndrome and mixed forms. The term ICE-S was proposed by Scheie and Yanoff in 1975 and by Yanoff in 1979. The capacity of migration of the abnormal corneal endothelial cell layer across the anterior chamber angle, and on to the anterior surface of the iris, possible on to the back surface of the iris and across the zonula fibers is responsible for corneal edema, secondary glaucoma, nevi, noduli and atrophy of the iris, and pupillary distortion. The contraction of the migrated membrane-like ICE tissue produces holes in the iris. The diseases are usually unilateral in young patients. The etiology is still not clear. Theories include membrane formation, low grade of inflammation and viral infection with Herpes simplex or Epstein-Barr virus. Glaucoma and edema of the cornea are the main therapeutic problems.
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PMID:[Iridocorneal endothelial syndrome (ICE-S): classification, clinical picture, diagnosis]. 1624 Feb 72

Sturge-Weber syndrome can be associated with facial port-wine stains and intracranial calcification, and concurrent Klippel-Trenaunay-Weber syndrome has been reported. Klippel-Trenaunay-Weber syndrome is a rare congenital mesodermal phakomatosis characterized by cutaneous hemangiomas, venous varicosities and soft tissue or bone hypertrophy of the affected extremities. This report is presented a rare case of the Sturge-Weber syndrome in combination with the Klippel-Trennaunay syndrome and phakomatosis pigmentovascularis in a 4-month-old infant. He showed nevus flameus on the right leg and both part of the face and back, leptomeningeal angiomatosis on right hemisphere, hypertrophy of the right leg, hemiconvulsion on the left and also evidences of congenital glaucoma and nevus of Ota. Very rare case combined with these three kinds of phakomatosis has been reported.
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PMID:An infantile case of Sturge-Weber syndrome in association with Klippel-Trenaunay-Weber syndrome and phakomatosis pigmentovascularis. 1636 29


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