Darier\u27s disease (Dyskeratosis follicularis, DD) is a genetic disorder characterized by
pathogenetic changes of keratinization with variant forms of cutaneous phenotype. Recently,
it has been showed that Darier\u27s 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 the most consistent mutations associated with
the acral hemorrhagic type of Darier\u27s disease. By direct sequencing we investigated
exon 15 of the ATP2A2 gene in a Croatian family in which one member had a hemorrhagic
Darier\u27s disease, but did not record any mutation in the family we investigated.
Our results show that mutations in exon 15 of the ATP2A2 gene are not a necessary prerequisite
for acral hemorrhagic type of Darier\u27s disease. Our finding support the variability
of clinical manifestations of Darier\u27s disease and lack of genotype/phenotype
consistency
