1/45. microcephaly with normal intelligence, and chorioretinopathy.An 18-year-old girl had microcephaly without mental or neurological disabilities. She had hypoplastic mandible, long cup-shaped ears, bilateral incurved little fingers, bilateral retinal pigmentation, and scattered areas of depigmentation as well as a history of osteochondroma. However, genetic test for mutation analysis of exon 15 of the APC gene showed negative results. To the best of our knowledge, this is the third case to be reported with microcephaly, normal intelligence, and bilateral congenital hypertrophy of the retinal pigment epithelium (CHRPE).- - - - - - - - - - ranking = 1keywords = retinal pigment, pigment (Clic here for more details about this article) |
2/45. lichen planus with involvement of all twenty nails and the oral mucous membrane.A 57-year-old man had had deformities of all ten fingernails for one and a half years before presentation and deformities of all ten toenails for the previous six months. The surfaces of the nails were rough, with excessive longitudinal striations. The bases of the nails were slightly hypertrophic, and the tips were atrophic and itchy. A longitudinal nail biopsy including the nail matrix revealed the typical histology of lichen planus. Reticulated pigmentation, maceration, and erosion on the buccal mucous membrane were also discovered. Histological analysis of the buccal mucous membrane revealed lichen planus intermingled with eosinophils. Immunological blood analysis revealed elevated CD4 T cells and CD4/CD8 ratio. He worked as a tinsmith and had dental metal. The metal series patch test revealed positive reactions to chromate and tin. Treatment with systemic steroids was quite effective in treating the nail lesions.- - - - - - - - - - ranking = 0.018121566607051keywords = pigment (Clic here for more details about this article) |
3/45. Acquired tumors arising from congenital hypertrophy of the retinal pigment epithelium.BACKGROUND: Congenital hypertrophy of the retinal pigment epithelium (CHRPE) is widely recognized to be a flat, stationary condition. Although it can show minimal increase in diameter, it has not been known to spawn nodular tumor that is evident ophthalmoscopically. OBJECTIVES: To report 5 cases of CHRPE that gave rise to an elevated lesion and to describe the clinical features of these unusual nodules. methods: Retrospective medical record review. RESULTS: Of 5 patients with a nodular lesion arising from CHRPE, there were 4 women and 1 man, 4 whites and 1 black. Three patients were followed up for typical CHRPE for longer than 10 years before the tumor developed; 2 patients were recognized to have CHRPE and the elevated tumor concurrently. visual acuity was decreased in 3 patients, mainly due to cystoid macular edema. The tumor was located between the equator and ora serrata in all 5 patients. There was no predilection for quadrant of the fundus. The flat part of the lesion was black and had visible lacunae in all 5 patients. The CHRPE ranged in basal diameter from 3 x 3 mm to 13 x 11 mm. The size of the elevated lesion ranged from 2 x 2 x 2 mm to 8 x 8 x 4 mm. The nodular component in all cases was supplied and drained by slightly prominent, nontortuous retinal blood vessels. Yellow retinal exudation occurred adjacent to the nodule in all 5 patients and 1 patient developed a secondary retinal detachment. Two tumors that showed progressive enlargement, increasing exudation, and progressive visual loss were treated with iodine 125-labeled plaque brachytherapy, resulting in deceased tumor size but no improvement in the visual acuity. CONCLUSIONS: Congenital hypertrophy of the retinal pigment epithelium can spawn a nodular growth that slowly enlarges, attains a retinal blood supply, and causes exudative retinopathy and chronic cystoid macular edema. Although no histopathologic evidence is yet available, we believe that the tumor probably represents either an acquired adenoma or a reactive proliferation of the retinal pigment epithelium. The best treatment of these lesions is not yet established.- - - - - - - - - - ranking = 2.9637568667859keywords = retinal pigment, pigment (Clic here for more details about this article) |
4/45. adenocarcinoma arising from congenital hypertrophy of retinal pigment epithelium.Congenital hypertrophy of the retinal pigment epithelium (CHRPE), traditionally regarded as a benign stationary condition, has recently been shown in 5 cases to give rise to an elevated, solid tumor. However, the histopathologic nature of the tumor that arises from CHRPE has not been previously determined. A 65-year-old woman developed a progressively enlarging peripheral fundus tumor that arose from a focus of classic CHRPE. The tumor produced a localized exudative retinal detachment, cystoid macular edema, and surface-wrinkling retinopathy. The mass was removed by local resection, and histopathologic examination revealed a low-grade adenocarcinoma of the retinal pigment epithelium, apparently arising from CHRPE. Although CHRPE is usually a benign nonprogressive lesion, it can give rise to a malignant tumor. Congenital hypertrophy of the retinal pigment epithelium should be observed periodically for development of a neoplasm.- - - - - - - - - - ranking = 3.4365745168753keywords = retinal pigment, pigment (Clic here for more details about this article) |
5/45. Foveal congenital hypertrophy of the retinal pigment epithelium in the setting of geographic atrophy from age-related macular degeneration.PURPOSE: To report a case of presumed congenital hypertrophy of the retinal pigment epithelium in the fovea of an 88-year-old woman in the setting of geographic atrophy from age-related macular degeneration. DESIGN: Observational case report. methods: An 88-year-old woman was examined. RESULTS: Best-corrected visual acuity was 20/63 in the right eye and 20/50 in the left eye. Multifocal areas of geographic atrophy and large-sized drusen were seen in the maculae of both eyes. Biomicroscopic examination of the right eye showed hyperpigmentation consistent with congenital hypertrophy of the retinal pigment epithelium through the center of the macula. No prior photographic documentation of the retina was available. CONCLUSION: This case suggests that foveal congenital hypertrophy of the retinal pigment epithelium may be seen in the setting of macular geographic atrophy. Although it is theoretically possible that the hyperpigmentation is reactive rather than congenital, the pigmentation is typical for congenital hypertrophy and is unlike any reactive pigmentation in our experience or described in a medline search of features of age-related macular degeneration. The case suggests that a hypertrophic process of the retinal pigment epithelium may coexist within or immediately adjacent to the anatomic boundaries of an atrophic process such as geographic atrophy from age-related macular degeneration.- - - - - - - - - - ranking = 4keywords = retinal pigment, pigment (Clic here for more details about this article) |
6/45. A new case of Zimmermann-Laband syndrome with atypical retinitis pigmentosa.This paper reports a case study of a 10-year-old girl exhibiting symptoms of a Zimmermann-Laband syndrome (ZLS), including an ocular involvement not previously observed. In addition to the case reported, we have also discovered 21 patients described in the literature. Major clinical findings, defined as being present in more than 75% of the cases under discussion, are presented.- - - - - - - - - - ranking = 0.072486266428204keywords = pigment (Clic here for more details about this article) |
7/45. Unilateral linear hyperpigmentation of the skin with ipsilateral sectorial hyperpigmentation of the retina.A 32-year-old Caucasian man had a mosaic hyperpigmentation on his left arm, arranged in a pattern following the lines of Blaschko. In addition, a mosaic hyperpigmentation was noted in his left eye, in the form of grouped congenital hypertrophy of the retinal pigment epithelium (CHRPE). Such "bear tracks" are segmentally oriented, well-demarcated, flat, hyperpigmented lesions originating with small dots at the optic disk and expanding towards the periphery. We hypothesize that these mosaic pigmentary lesions involving the skin and the eye on the same side of the body may have originated from an early postzygotic mutation and thus may be etiologically related.- - - - - - - - - - ranking = 0.70839801598109keywords = retinal pigment, pigment (Clic here for more details about this article) |
8/45. Hypomelanosis of ito.Four-year-old boy presented with hypopigmented skin lesions since birth and seizure of recent onset. He had psychomotor retardation and hemi hypertrophy of left half of body. Computerised tomography scan findings were suggestive of hemimegalencephaly. On clinical grounds, a diagnosis of Hypomelanosis of Ito was made.- - - - - - - - - - ranking = 0.018121566607051keywords = pigment (Clic here for more details about this article) |
9/45. Hemihypertrophy and primary small intestinal lymphangiectasia in incontinentia pigmenti achromians.A rare occurrence of primary small intestinal lymphangiectasia in an 8-year-old girl with incontinentia pigmenti achromians is reported. In addition, she had right sided hemihypertrophy. Though intestinal lymphangiectasia is known to have a few syndromic associations, its co-existence in a child with incontinentia pigmenti achromians has not yet been reported in the literature. Hemihypertrophy is also extremely rare in the latter and only very few instances of an association between the two have been documented previously.- - - - - - - - - - ranking = 0.10872939964231keywords = pigment (Clic here for more details about this article) |
10/45. indocyanine green angiography in congenital hypertrophy of the retinal pigment epithelium.PURPOSE: To report a case of congenital hypertrophy of the retinal pigment epithelium followed up for 7 years showing features not previously reported. methods: A complete fundus examination including fluorescein angiography was performed at first examination and at follow-up. RESULTS: The area of congenital hypertrophy of the retinal pigment epithelium presented morphologic changes, showing enlargement of the lesion on one side associated with partial regression on another side. In addition, the indocyanine green angiography findings revealed that this test was more useful than fluorescein angiography to delineate the real boundaries of the lesion and disclosed hypofluorescent areas inside the main lesion that were not appreciated at ophthalmoscopy or fluorescein angiography. CONCLUSIONS: indocyanine green angiography is an useful test to understand the findings and evolution of congenital hypertrophy of the retinal pigment epithelium.- - - - - - - - - - ranking = 3.4365745168753keywords = retinal pigment, pigment (Clic here for more details about this article) |
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