Naslov
Sepsa : rijedak događaj Darijerove bolesti
(Sepsis : an unusual event of Darier's disease)

Autori
Milavec-puretić, Višnja ; Lipozenčić, Jasna ; Šustić, Nela ; Pećina-Šlaus, Nives:

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni

Izvornik
Drugi kongres hrvatskih dermatovenerologa s međunarodnim sudjelovanjem : knjiga sažetaka / - , 2002

Skup
Kongres hrvatskih dermatovenerologa s međunarodnim sudjelovanjem (2 ; 2002)

Mjesto i datum
Opatija, Hrvatska, 16.05.2002. - 19.05.2002

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
Darier s disease; Sepsis

Sažetak
Dyskeratosis follicularis (Darier's disease) is a genetic disorder characterized by pathogenetic changes of keatinization with variant forms of cutaneous phenotype. We report on a severe case of the disease with an unusual manifestation involving Staphylococcal sepsis. The patient was treated systemically with infusions, oral antibiotics, and retinoids. Antiseptics, keratolytic ointments and creams were given topically to promote epithelization. His condition improved dramatically after 14 days of treatment. All erosions of the trunk, extremities, neck, and head had epithelized. We suspect that extreme sun exposure and neglect of care on genetically susceptible sites triggered the sepsis. Recently, it has been showed that Darier disease cause mutations in the ATP2A2 gene, at 12q24.1. The gene encodes sarco-endoplasmic reticulum calcium ATPase type 2 (SERCA2). Mutations in exon 15 are reported to be associated with the acral hemorrhagic type of Dariers disease. In order to establish genetic background of our patient's clinical phenotype we investigated exon 15 of the ATP2A2 gene. By direct sequencing of the PCR amplified exon 15 of the ATP2A2 gene we did not detect any mutation in our patient's DNA (skin biopsy and blood), nor did we detect mutations in 4 members of his family. Our results show that mutations in exon 15 of the ATP2A2 gene are not a necessary prerequisite for acral hemorrhagic type of Darier disease. Our findings support the variability of clinical manifestations of Darier disease and lack of genotype/phenotype consistency.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti

Napomena
Treća nagrada za poster.

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