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Query: UMLS:C0027960 (mole)
 21,279 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The Sturge-Weber syndrome is characterized by the presence of a leptomeningeal hemangioma variably associated with a facial nevus flammeus, seizure disorder, mental retardation, hemiparesis, homonymous hemianopsia, glaucoma, and other signs and symptoms. The relationship between the cutaneous manifestations and the other features of this disorder was studied in 35 patients. We observed that all patients with the facial nevus flammeus had involvement of the upper eye lid or forehead. Bilateral cutaneous involvement was common and when present, was often associated with extensive lesions of the trunk and extremities. The distribution of the cutaneous lesions appeared to be unrelated to that of the trigeminal nerve. A subgroup of patients, the syndrome's "forme fruste," were identified. There appeared to be no relationship between the presence and extent of the cutaneous lesions and the observed seizure disorder, difficulty of seizure control, intellectual deficit, hemiparesis, homonymous hemianopsia, and intracranial calcification. Notably, the "forme fruste" patients appeared to be spared from glaucomatous involvement and from choroidal hemangioma. We will also discuss other aspects of this syndrome.
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PMID:The cutaneous manifestations of Sturge-Weber syndrome. 622 7

A case of associated disease in a child is described. It consisted of a disseminated capillary naevus with a vascular malformation in the gastrointestinal tract, bilateral congenital glaucoma, hypospadias, and bilateral ectopic testicles.
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PMID:[Cutaneo-visceral disseminated flat angioma, glaucoma, hypospadias and testicular ectopy]. 635 Jul 61

This paper presents a case of glaucoma accompanying unilateral naevus flammeus of the face, in which, for the first time, an increase in the measured extraocular venous pressure was detected and verified as the main factor responsible for the pathological increase in intraocular pressure.
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PMID:[Increased extraocular venous pressure and glaucoma in nevus flammeus of the face]. 661 39

A 44-year-old man had progressive visual loss and pain due to angle-closure glaucoma associated with a papillary pigmented lesion. The eye was enucleated because of intractable pain and the suspicion of a malignant tumor. Histologic and electron microscopic examination of the enucleated eye revealed a partially necrotic melanocytoma of the optic nerve. There was histologic evidence of vaso-occlusive disease within the optic nerve that resulted in ischemic necrosis of the tumor, hypoxic retinopathy and neovascular glaucoma. This report emphasizes that significant complications may occur in otherwise typical intraocular nevi.
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PMID:Angle closure glaucoma as initial manifestation of melanocytoma of the optic disc. 662 22

The following is a brief summary of the results in our ten groups of cases. The positive features of laser scotometry are emphasized. The normal response is well defined: there are no uncertain blind spot margins. The peripheral field is probably extended beyond 60 degrees nasally and superiorly. The size and shape of the small central scotomas associated with macular holes are easily defined and correlated directly with the visible edge of the hole. This result is distinct from the intact subjective response with cystoid maculopathy and surface wrinkling retinopathy. Plotting the margins of peripheral abnormalities such as retinal detachments, retinoschisis, and lattice degeneration is easily done. Schisis is distinguished by an absolute scotoma. This scotometry is facilitated by a larger "normal" field with the laser instrument. Lattice degeneration causes a field defect. A branch retinal artery occlusion shows a slightly jagged border, difficult to detect by standard methods. A cotton-wool spot does not show a total nerve-fiber-bundle defect. Small absolute scotomas are correlated with degenerative changes within nevi. Degenerative changes over small melanomas--ie, the orange spots--also produce absolute field defects. "Bear track" lesions have a normal field, whereas dense black isolated lesions are associated with absolute scotomas. In macular degeneration the bright laser test object is usually visible to the patient within detachments of neuroepithelium, detachments of the pigment epithelium, and over recent subretinal neovascularization. Response is absent over sharply-defined zones of pigment atrophy and over late subretinal fibrovascular mounds. In contrast to the degenerative cases, a selection of hereditary cases showed no direct correlation between the zone of pigment atrophy and the zone of absolute scotoma. The scotoma was much larger than the atrophic region, extending to the edge of the cream-colored subretinal spots. The laser target method sharply defines the absolute scotoma associated with papilledema. It also detects a slit-like nerve-fiber-bundle defect, suggesting progressive damage. Small, but possibly not the earliest, scotomas associated with glaucoma can be detected with laser scotometry. In some cases they are detected when the Goldmann perimetric field is normal. Late residual visual fields are easily defined, since fixation can be directly monitored. The vertical border of hemianopic defects can be defined within one degree of accuracy.
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PMID:Funduscopically controlled scotometry. 667 79

A 23-year-old-woman had iris-nevus (Cogan-Reese) syndrome characterized by unilateral glaucoma with peripheral anterior synechiae, multiple iris nodules, and ectopic Descemet's membrane. A surgical specimen excised from the involved eye was examined by light and electron microscopy. A cuticular membrane covered both the anterior and posterior surfaces of the iris in this specimen. On the anterior surface of the iris, many projections of apparently normal iris stroma pierced or were surrounded by this membrane. On the posterior surface of the iris, this membrane was associated with a monolayer of cuboidal cells.
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PMID:Histopathology in the iris-nevus (Cogan-Reese) syndrome. 699 84

The clinical, histological and ultrastructural findings in a case of Cogan-Reese syndrome (iris nevus) are presented. The typical iris nodules first appeared 14 years after a unilateral, juvenile, open-angle glaucoma was diagnosed. No lasting regulation of the intermittently elevated pressure was possible either medically or surgically. The failure of two filtering operations was due to the histologically verified endothelialization of the blebs. Endothelialization and deposition of Descemet's membrane on the anterior surface of the lens and on the zonule is described for the first time in this syndrome. The histological findings support the view that the peripheral anterior synechiae and iris nodules are secondary to the endothelialization. Hence the diagnosis of Cogan-Reese syndrome cannot be made until relatively late in the course of this disease. Cytological similarities between the proliferating endothelium in this case and in Chandler syndrome support the recent hypothesis that the Cogan-Reese syndrome belongs to the irido-corneal-endothelial group of syndromes.
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PMID:[Cogan-Reese syndrome]. 713 78

Two cases of Sturge-Weber-Krabbe's syndrome with unusual symptomatology are described. In the first case 13 years old boy the naevus flammeus was missing. A convulsive fit at the age of 2 1/2 years led to the correct diagnosis from the very characteristic radiological findings. At 13 years, intracortical calcifications were bulky and diffuse, and associated with optic nerve hypoplasia and anomalies of ocular motricity, their relation with the syndrome being difficult to establish. In the second patient (aged 17) the naevus flammeus was extensive, with numerous naevi on the whole body, and was associated with a retinal vascular malformation and glaucoma. A choroidal angioma was not observed. In these two patients the disease was isolated, without familial character, and there were no other neurological symptoms such as a pathological EEG. No evidence of mental retardation was noted.
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PMID:[Sturge-Weber-Krabbe syndrome with unusual symptomatology (author's transl)]. 728 82

Five-year survival data were available in 78 cases originally classified as uveal melanomas in patients less than 20 years old. Forty-two were malignant melanomas arising from the choroid and/or ciliary body; 13 patients from this group died of metastatic disease. Factors that significantly correlated with fatality were a red, painful eye, extraocular extension at enucleation, basal tumor diameter greater than 10 mm, increased mitotic activity, and tumor necrosis. There were 36 iridic tumors; nine were reclassified as nevi. Of the 27 patients with iridic melanomas, only four died of metastases. The predominant factors relating to fatal outcome were glaucoma, extension of tumor into the ciliary body, diffuse growth, deep angle invasion, scleral invasion by tumor cells, and increased mitotic activity. Except for their relative rarity, uveal melanomas in children and adolescents did not differ significantly from their counter-parts in adults.
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PMID:Uveal melanoma in children and adolescents. 730 10

In a patient with the clinical features of the iris nevus syndrome who was treated for glaucoma a cataract developed later. The sector of iris removed during cataract extraction was examined by electron microscopy and was found to be covered by ectopic corneal endothelium with an underlying atypical Descemet's membrane. Abnormalities in the iris included aggregates of melanophagic cells in the anterior stroma and fibrosis in relation to the ectopic endothelium. These findings suggest that many of the iris abnormalities seen in this disorder occur on a reactive basis.
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PMID:Electron microscopy in iris nevus syndrome. 737 89


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