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Pseudoxanthoma elasticum in Southern Africa ; by Denis Lowe Viljoen
Pseudoxanthoma elasticum (PXE) is a rare heritable disorder of elastin with major manifestations in the cardiovascular system, skin and eyes. The disorder is heterogeneous, but the underlying genetic defects remain unresolved. The study was undertaken to evaluate the frequency, clinical presentation...
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| Format: | Thesis |
| Language: | English |
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Department of Medicine
2024
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| _version_ | 1867613705963831296 |
|---|---|
| access_status_str | Open Access |
| author | Viljoen, Denis Lowe |
| author2 | Professor Peter Beighton |
| author_browse | Professor Peter Beighton Viljoen, Denis Lowe |
| author_facet | Professor Peter Beighton Viljoen, Denis Lowe |
| author_sort | Viljoen, Denis Lowe |
| collection | Thesis |
| description | Pseudoxanthoma elasticum (PXE) is a rare heritable disorder of elastin with major manifestations in the cardiovascular system, skin and eyes. The disorder is heterogeneous, but the underlying genetic defects remain unresolved. The study was undertaken to evaluate the frequency, clinical presentation, natural history, medical complications and therapeutic options for individuals with PXE in Southern Africa. During the investigation, in which 86 patients in 58 families were studied, it became apparent that in addition to the 4 previously delineated forms of the disorder, there was an autonomous entity confined to individuals of Afrikaner stock in which serious ophthalmological sequelae occurred. Detailed genealogical studies were performed in this group, common ancestors were identified and a high prevalence of the condition was discovered. The dermatological, cardiovascular and ophthalmological manifestations of PXE were investigated at a clinical, biochemical and ultrastructural level. Restriction fragment length polymorphisms related to type I collagen and to the human elastin gene were used in linkage studies in an attempt to resolve the question of possible heterogeneity. · Therapeutic options for the oph thalmological and cosmetic complications were evaluated. As a result of this investigation and subsequent publications, information regarding the clinical consequences of a new form of PXE within the Afrikaner community has been disseminated to colleagues in the dermatological, genetic, medical, cardiac and ophthalmological fields in South Africa and abroad. In the light of my observations, antenatal diagnosis and carrier detection are likely to be feasible in the foreseeable future. |
| format | Thesis |
| id | oai:open.uct.ac.za:11427/40507 |
| institution | University of Cape Town (South Africa) |
| language | eng |
| last_indexed | 2026-06-10T12:40:24.346Z |
| license_str | Not specified — see source repository |
| provenance_str_mv | Harvested via OAI-PMH from UCTD — University of Cape Town Open Access Repository |
| publishDate | 2024 |
| publishDateRange | 2024 |
| publishDateSort | 2024 |
| publisher | Department of Medicine |
| publisherStr | Department of Medicine |
| record_format | dspace |
| source_str | UCTD — University of Cape Town Open Access Repository |
| spelling | oai:open.uct.ac.za:11427/40507 Pseudoxanthoma elasticum in Southern Africa ; by Denis Lowe Viljoen Viljoen, Denis Lowe Professor Peter Beighton Pseudoxanthoma Elasticum - South Africa Pseudoxanthoma elasticum (PXE) is a rare heritable disorder of elastin with major manifestations in the cardiovascular system, skin and eyes. The disorder is heterogeneous, but the underlying genetic defects remain unresolved. The study was undertaken to evaluate the frequency, clinical presentation, natural history, medical complications and therapeutic options for individuals with PXE in Southern Africa. During the investigation, in which 86 patients in 58 families were studied, it became apparent that in addition to the 4 previously delineated forms of the disorder, there was an autonomous entity confined to individuals of Afrikaner stock in which serious ophthalmological sequelae occurred. Detailed genealogical studies were performed in this group, common ancestors were identified and a high prevalence of the condition was discovered. The dermatological, cardiovascular and ophthalmological manifestations of PXE were investigated at a clinical, biochemical and ultrastructural level. Restriction fragment length polymorphisms related to type I collagen and to the human elastin gene were used in linkage studies in an attempt to resolve the question of possible heterogeneity. · Therapeutic options for the oph thalmological and cosmetic complications were evaluated. As a result of this investigation and subsequent publications, information regarding the clinical consequences of a new form of PXE within the Afrikaner community has been disseminated to colleagues in the dermatological, genetic, medical, cardiac and ophthalmological fields in South Africa and abroad. In the light of my observations, antenatal diagnosis and carrier detection are likely to be feasible in the foreseeable future. 2024-08-16T13:04:45Z 2024-08-16T13:04:45Z 1991 2024-08-16T12:02:04Z Thesis / Dissertation Doctoral Doctor http://hdl.handle.net/11427/40507 eng application/pdf Department of Medicine Faculty of Health Sciences |
| spellingShingle | Pseudoxanthoma Elasticum - South Africa Viljoen, Denis Lowe Pseudoxanthoma elasticum in Southern Africa ; by Denis Lowe Viljoen |
| thesis_degree_str | Doctoral |
| title | Pseudoxanthoma elasticum in Southern Africa ; by Denis Lowe Viljoen |
| title_full | Pseudoxanthoma elasticum in Southern Africa ; by Denis Lowe Viljoen |
| title_fullStr | Pseudoxanthoma elasticum in Southern Africa ; by Denis Lowe Viljoen |
| title_full_unstemmed | Pseudoxanthoma elasticum in Southern Africa ; by Denis Lowe Viljoen |
| title_short | Pseudoxanthoma elasticum in Southern Africa ; by Denis Lowe Viljoen |
| title_sort | pseudoxanthoma elasticum in southern africa by denis lowe viljoen |
| topic | Pseudoxanthoma Elasticum - South Africa |
| url | http://hdl.handle.net/11427/40507 |
| work_keys_str_mv | AT viljoendenislowe pseudoxanthomaelasticuminsouthernafricabydenisloweviljoen |