Pseudoxanthoma elasticum
Authors:
A. Kováčiková Curková; E. Rasochová
Authors place of work:
Dermatovenerologická klinika LF UK a Univerzitnej Nemocnice Bratislava – emocnica Staré Mesto, prednostka prof. MUDr. Mária Šimaljaková, Ph. D.
Published in the journal:
Čes-slov Derm, 85, 2010, No. 4, p. 219-223
Category:
Case Reports
Summary
Pseudoxanthoma elasticum is mostly an autosomal recessive genetic disorder caused by mutations in the ABCC6 gene. It is characterised by progressive mineralization and fragmentation of elastic fibers in the skin, retina and blood vessels. The cutaneous features bring the patient to medical attention, but the morbidity is related to the degree of extracutaneous involvement. The disease is progressive with phenotypic variability and no definite genotype-phenotype correlation. It is an incurable disease, the treatment being only supportive – focused on the prevention and early detection of adverse ocular and cardiovascular events. We would like to highlight the role of dermatologists in detecting this rare disorder and advising an appropriate screening for complications.
Key words:
pseudoxanthoma elasticum – elastic fibers mineralization – cutaneous and extracutaneous manifestations – differential diagnosis – regular follow-up
Zdroje
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Štítky
Dermatology & STDs Paediatric dermatology & STDsČlánok vyšiel v časopise
Czech-Slovak Dermatology
2010 Číslo 4
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