Fibrillin immunofluorescence in pseudoxanthoma elasticum

Maurice Godfrey, Jason Cisler, Marie Louise Geerts, Angela Christiano, Jouni Uitto, Sylvia De Bie, Anne DePaepe

Research output: Contribution to journalArticle

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Abstract

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.

Original languageEnglish (US)
Pages (from-to)589-594
Number of pages6
JournalJournal of the American Academy of Dermatology
Volume32
Issue number4
DOIs
StatePublished - Apr 1995

Fingerprint

Pseudoxanthoma Elasticum
Fluorescent Antibody Technique
Elastin
Microfibrils
Skin
Elastic Tissue
Fibroblasts
Marfan Syndrome
Connective Tissue
Fibrillins
Antibodies

ASJC Scopus subject areas

  • Dermatology

Cite this

Godfrey, M., Cisler, J., Geerts, M. L., Christiano, A., Uitto, J., Bie, S. D., & DePaepe, A. (1995). Fibrillin immunofluorescence in pseudoxanthoma elasticum. Journal of the American Academy of Dermatology, 32(4), 589-594. https://doi.org/10.1016/0190-9622(95)90342-9

Fibrillin immunofluorescence in pseudoxanthoma elasticum. / Godfrey, Maurice; Cisler, Jason; Geerts, Marie Louise; Christiano, Angela; Uitto, Jouni; Bie, Sylvia De; DePaepe, Anne.

In: Journal of the American Academy of Dermatology, Vol. 32, No. 4, 04.1995, p. 589-594.

Research output: Contribution to journalArticle

Godfrey, M, Cisler, J, Geerts, ML, Christiano, A, Uitto, J, Bie, SD & DePaepe, A 1995, 'Fibrillin immunofluorescence in pseudoxanthoma elasticum', Journal of the American Academy of Dermatology, vol. 32, no. 4, pp. 589-594. https://doi.org/10.1016/0190-9622(95)90342-9
Godfrey, Maurice ; Cisler, Jason ; Geerts, Marie Louise ; Christiano, Angela ; Uitto, Jouni ; Bie, Sylvia De ; DePaepe, Anne. / Fibrillin immunofluorescence in pseudoxanthoma elasticum. In: Journal of the American Academy of Dermatology. 1995 ; Vol. 32, No. 4. pp. 589-594.
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AU - Cisler, Jason

AU - Geerts, Marie Louise

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AU - Uitto, Jouni

AU - Bie, Sylvia De

AU - DePaepe, Anne

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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.

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