Pseudoxanthoma elasticum in Southern Africa ; by Denis Lowe Viljoen

Viljoen, Denis Lowe

Pseudoxanthoma elasticum in Southern Africa ; by Denis Lowe Viljoen

Thesis / Dissertation

1991

Abstract

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.

Keywords

Pseudoxanthoma Elasticum - South Africa

Reference:

Collections

PhD / Doctoral

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