Naslov
Clinical case of acral hemorrhagic Darier's disease is not caused by mutations in exon 15 of the ATP2A2 gene

Autori
Pećina-Šlaus, Nives ; Milavec-Puretić, Višnja ; Nikuševa-Martić, Tamara ; Kubat, Milovan ; Fischer-Žigmund, Martina ; Lipozenčić, Jasna

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

Izvornik
Abstracts of the 14th Ljudevit Jurak International Symposium on comparative pathology / - , 2003, 34-34

Skup
14th Ljudevit Jurak International Symposium on comparative pathology (14 ; 2003)

Mjesto i datum
Zagreb, Hrvatska, 06.06.2003. - 07.06.2003

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
Darier's disease; mutations; ATP2A2 gene

Sažetak
Dyskeratosis follicularis (Darier's Disease, DD, MIM#124200) is a genetic skin disorder characterized by the loss of adhesion between epidermal cells (acantholysis) and pathogenetic changes of keratinization with variant forms of cutaneous phenotype. Recently, it has been shown that DD cause mutations in the ATP2A2 gene, at 12q24.1. This gene (GenBank accession nos M23115 and M23114) encodes the sarco/endoplasmic reticulum calcium-pumping ATPase (SERCA2), which is highly expressed in keratinocytes. We report on a severe case of the acral hemorrhagic type of DD 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. Mutations in exon 15 of the ATP2A2 gene are reported to be the most consistent mutations associated with the acral hemorrhagic type of DD (Ruiz-Perez, et al. Hum Molec Genet 1999 ; 8: 1621-1630 ; Sakuntabhai, et al. Nat Genet 1999 ; 21: 271-277). 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 DD. Our finding support the variability of clinical manifestations of DD and lack of genotype/phenotype consistency.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti

POVEZANOST RADA