Extractions: SUBRETINAL SURGERY IN A PATIENT WITH GRONBLAD-STRANDBERG SYNDROME J. Bermig, A. Lambert, P. W5lfelschneider, F. Faude Background: The Grnblad-Strandberg syndrome is a combination of pseudoxanthoma elasticum and angoid streaks. They represent splits in Bruch's membrane and may lead to choroidal subfoveal neovascularisations with a considerable loss of vision. Case report: A 46-year old woman with Grbnblad-Strandberg syndrome was referred to our clinic with a history of diminished vision since 6 month. Peripapiliar angoid streaks and peripheral pigment epithelial atrophy were present on both sides, as well as a subfoveal choroidal neovascular membrane with exudative retinal detachement on the right side. At the performed vitrectomy a subfoveal choroidal neovascular membrane lying between the pigment epithelium and the neuro retina was removed. Visual acuity improved from I/50 preoperative to 1/20 5 month postoperativ. Flourescein angiography revealed no recurrence of the neovascular membrane but a distinct loss of retinal pigment epithelium in the foveolar area. Conclusion: Even in angiod streaks the choroidai neovascular membrane may lay between retinal pigment epithelium and neuro retina so that a subretinal surgery may be usefull. In spite of the loss of retinal pigment epithelium in the foveolar area the vision of our patient improved.
HOSPITAL GENERAL DOCENTE gronblad-strandberg syndrome associationof angioid streaks and an elastic pseudoxanthoma (apropos of a case in a http://www.cuba.cu/publicaciones/documentos/innovac/articu3-6.htm
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Pseudoxanthoma Elasticum Comment. Pseudoxanthoma elasticum, or gronbladstrandberg syndrome, is a systemic,genetic disorder of connective tissue that is characterized by progressive http://dermatology.cdlib.org/DOJvol7num2/nyu2/6/6.html
Extractions: refs = new Array("References:","Lebwohl M, et al. Classification of pseudoxanthoma elasticum: report of a consensus conference. J Am Acad Dermatol 30:103, 1994 ", "Sherer DW, et al. Pseudoxanthoma elasticum: an update. Dermatology 199:3, 1999 ", "Cai L, et al. A 500-kb region on chromosome 16p13.1 contains the pseudoxanthoma elasticum locus: high-resolution mapping and genomic structure. J Mol Med 78:36, 2000 ", "Ringpfeil F, et al. Pseudoxanthoma elasticum: mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter. Proc Natl Acad Sci (USA) 97:6001, 2000 "); DOJ New York University Department of Dermatology This 51-year-old man presented to the Charles C. Harris Skin and Cancer Pavilion for treatment of warts on the face. During the physical examination, yellow, indurated plaques with a peau d'orange surface were scattered on the arms. There were no lesions on the neck or torso. He denied pruritus, pain, or any symptoms at the sites. The patient was referred to an ophthalmologist. Past medical history includes end-stage renal failure of unknown etiology that required hemodialysis. He underwent a cadaveric renal transplantation that failed and was subsequently removed. Medications include prednisone 5 mg. every other day, hydroxychloroquine, simvastatin, famotidine, calcium acetate, erythropoietin, and calcitriol. He had no known drug allergies.
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Extractions: Pseudoxanthoma elasticum The basic fault in PXE is unknown, but appears to relate to genetic abnormalities on chromosome 16p13.1. There is good evidence that, in affected individuals, collagen and ground substance are abnormal. Calcium then accumulates in abnormal elastic fibres in the skin, blood vessels, eyes and heart. It affects about 1 in every 160,000 people. There are a number of subtypes of PXE, each with a slightly different clinical presentation and pattern of inheritance. Two are inherited as an autosomal dominant characteristic; this means half the children of an affected individual are affected. Three types of PXE are autosomal recessive (1 in 4 children affected). Clinical features Individuals with PXE have distinctive skin lesions, eye abnormalities, and changes of blood vessels but these may vary in distribution and severity The skin lesions of PXE are characteristic. They consist of small, yellowish bumps in rows or a lacy pattern, which may join to make large patches. The skin is soft, lax and slightly wrinkled. The patches may be slightly pebbly in appearance, which has been described as cobblestoned.
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