Pseudoxanthoma elasticum

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We were unfortunately unable to download the information for this disease from OMIM.

Prevalence of clinical parameters (%)

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Pubmed id number as a reference Organ system affected
Number of patients in the reference Percent affected patients (Between 0 and 1, eg. 0.1 = 10%)
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List of symptoms

Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
Angioid streaks nervous 100 % 2012127 2012-01-11
Peau d`orange lesions integumentary 86 % 2012127 2012-01-11
Yellowish papules integumentary 67 % 3652487 2012-01-11
Macular degeneration nervous 65 % 2012127 2012-01-11
Angioid streaks nervous 53 % 3652487 2012-01-11
Choroiditis nervous 33 % 3652487 2012-01-11
Hypertension circulatory 32 % 2012127 2012-01-11
Claudicatio circulatory 29 % 3652487 2012-01-11
Hypertension circulatory 25 % 3652487 2012-01-11
Claudicatio circulatory 25 % 2012127 2012-01-11
Angina circulatory 7 % 2012127 2012-01-11
Gastrointestinal bleeding digestive 5 % 2012127 2012-01-11

List of references:

Pseudoxanthoma elasticum: similar autosomal recessive subtype in Belgian and Afrikaner families.
A De Paepe, D Viljoen, M Matton, P Beighton, V Lenaerts, K Vossaert, S De Bie, D Voet, J J De Laey, A Kint,

A multidisciplinary survey of the clinical and genetic characteristics of 26 Belgian and 32 Afrikaner families with biopsy-proven pseudoxanthoma elasticum (PXE) was undertaken. The major PXE phenotype emerging from this study is very similar in both patient groups and is characterized by severe ophthalmologic manifestations with variable, mild cutaneous and vascular symptoms. In the families with more than one affected relative, segregation analysis is compatible with autosomal recessive inheritance in both groups. It is suggested that the PXE phenotype of these Belgian and Afrikaner patients is distinct from the other recognized PXE subtypes. The phenotypic resemblance in both patient groups raises the question whether a similar genetic mechanism is involved.

American journal of medical genetics - Jan 1991

Heterogeneity of pseudoxanthoma elasticum: delineation of a new form?
D L Viljoen, F M Pope, P Beighton,

Sixty-four patients with pseudoxanthoma elasticum (PXE) were investigated in a nationwide study within South Africa and Zimbabwe. Thirty-nine individuals formed a distinct clinical subgroup. These persons were found exclusively among people of Afrikaner descent, whose origins are mainly derived from Dutch and French-Huguenot stock. This disorder was inherited as an autosomal recessive trait and presented mild to moderate cutaneous and cardiovascular manifestations. However, after the third decade of life severe visual impairment developed and culminated in blindness in 8 people by the age of 50. The cause of the visual defect was progressive extension of angioid streaks into the macula with neovascularization and haemorrhage. Laser therapy may have prevented further bleeding in 4 instances. The severity of ocular involvement contrasted with the mildness of the skin changes, and in this respect the condition seems to differ from previously delineated autosomal recessive forms of PXE.

Clinical genetics - Aug 1987