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Darierova bolest

Authors: Peterka, Zala;

Darierova bolest

Abstract

Darier's disease is a rare genetic skin disease that is inherited in an autosomal dominant manner. It is caused by mutations in the ATP2A2 gene, which results in a disturbance in calcium regulation within skin cells. The clinical picture includes keratotic papules that usually appear on seborrheic areas such as the face, scalp, chest, and back. The lesions can be painful and prone to infection. There is currently no known therapy to cure this disease, but proper diagnosis and patient education can greatly facilitate its management. The disease is often associated with psychiatric disorders, including depression and anxiety, which further complicates the condition of sufferers.

DB je rijetka genetska kožna bolest koja se nasljeđuje autosomno dominantno. Uzrokovana je mutacijama u ATP2A2 genu, što rezultira poremećajem u regulaciji kalcija unutar stanica kože. Klinička slika uključuje keratotične papule koje se obično pojavljuju na seboroičnim područjima poput lica, vlasišta, prsa i leđa. Lezije mogu biti bolne i sklone infekcijama. Trenutno ne postoji u potpunosti adekvatna terapija koja bi dovela do izlječenja ove bolesti, međutim pravilna dijagnoza i edukacija pacijenata mogu značajno olakšati njezino upravljanje. Bolest se često povezuje s psihijatrijskim poremećajima, uključujući depresiju i anksioznost, što dodatno komplicira stanje oboljelih.

Country
Croatia
Related Organizations
Keywords

zatajenje srca., dijabetes, diabetes, heart failure, psychiatric disorders., Darier's disease, psihijatrijski poremećaji, genodermatoza, BIOMEDICINA I ZDRAVSTVO. Kliničke medicinske znanosti. Dermatovenerologija., ATP2A2 gen, Darierova bolest, BIOMEDICINE AND HEALTHCARE. Clinical Medical Sciences. Dermatovenerology., genodermatosis, ATP2A2 gene

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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
0
Average
Average
Average
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