TY - JOUR
T1 - Fibrillin immunofluorescence in pseudoxanthoma elasticum
AU - Godfrey, Maurice
AU - Cisler, Jason
AU - Geerts, Marie Louise
AU - Christiano, Angela
AU - Uitto, Jouni
AU - Bie, Sylvia De
AU - DePaepe, Anne
N1 - Funding Information:
From the Department of Pediatrics, University of Nebraska Medical Centeqa the Departments of Dermatologyb and Medical Genetiqc University Hospital, Ghent, and the Department of Dermatology, Jefferson Medical College, Thomas Jefferson University, Philadel-phia.d Supported in part by a March Dimes Basil O’Connor Starter Scholar Award (No. 5-FY92-1212) (M. G.), a grant from the National Heart, Lung, and Blood Institute of the National Institutes of Health (No. lR29 HL48126-01) (M. G.), a Dermatology Foundation Ca-reer Development Award (A. C.), a grant from the National Insti-tute of Arthritis and Musculoskeletal and Skin Diseases of the Na-tional Institutes of Health (No. ROl AR28450) (J. U.), and a Ghent University Research Grant (No. 01174491) (A. D.).
PY - 1995/4
Y1 - 1995/4
N2 - Background: Pseudoxanthoma elasticum (PXE) is a rare heritable connective tissue disorder manifested by skin, ocular, and cardiovascular anomalies. The basic defect is unknown; however, the microscopic findings are indicative of defects in elastic fibers. Among the components of the elastic fibers are elastin and elastin-associated microfibrils. Objective: We assessed the fidelity of this fibrillar system in PXE with the use of antibodies to fibrillin, a major component of elastin-associated microfibrils. Methods: Using a well-established immunofluorescence assay, we studied fibrillin deposition in dermal fibroblast cultures from 16 patients with PXE. Results: Six of the 16 patients (37%) showed some abnormality of fibrillin deposition in fibroblasts derived from lesional skin. Fibroblasts from nonlesional skin displayed normal fibrillin immunofluorescence. The only sibship studied, however, was discordant for fibrillin immunostaining. Conclusion: Unlike the findings in Marfan syndrome, these data are not suggestive of causal fibrillin defects in PXE.
AB - Background: Pseudoxanthoma elasticum (PXE) is a rare heritable connective tissue disorder manifested by skin, ocular, and cardiovascular anomalies. The basic defect is unknown; however, the microscopic findings are indicative of defects in elastic fibers. Among the components of the elastic fibers are elastin and elastin-associated microfibrils. Objective: We assessed the fidelity of this fibrillar system in PXE with the use of antibodies to fibrillin, a major component of elastin-associated microfibrils. Methods: Using a well-established immunofluorescence assay, we studied fibrillin deposition in dermal fibroblast cultures from 16 patients with PXE. Results: Six of the 16 patients (37%) showed some abnormality of fibrillin deposition in fibroblasts derived from lesional skin. Fibroblasts from nonlesional skin displayed normal fibrillin immunofluorescence. The only sibship studied, however, was discordant for fibrillin immunostaining. Conclusion: Unlike the findings in Marfan syndrome, these data are not suggestive of causal fibrillin defects in PXE.
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U2 - 10.1016/0190-9622(95)90342-9
DO - 10.1016/0190-9622(95)90342-9
M3 - Article
C2 - 7896947
AN - SCOPUS:0028941505
VL - 32
SP - 589
EP - 594
JO - Journal of the American Academy of Dermatology
JF - Journal of the American Academy of Dermatology
SN - 0190-9622
IS - 4
ER -