Author/Editor		Dragoš, V; Podrumac, B; Komel, R; Liović, M; Kansky, A
Title		Epidermolysis bullosa simplex in Slovenia
Type		članek
Source		Acta Dermatovenerol Alp Pannon Adriat
Vol. and No.		Letnik 12, št. 3
Publication year		2003
Volume		str. 83-6
Language		eng
Abstract		Background. Epidermolysis bullosa is a genetic disease where blisters occur spontaneously or after minor trauma. In epidermolysis bullosa simplex (EBS) the cleavage occurs in basal keratinocytes due to a mutation in genes encoding keratins 5 or 14. Materials and methods. Clinical records of the Department of Dermatology, Medical Center Ljubljana as well as from other dermatology departments in Slovenia were reviewed. Molecular defects in 10 Slovenian EBS patients were investigated. Results. Molecular defects were detected in K14 in five patients and in K 5 in two patients, clinically diagnosed with EBS - Weber Cockayne. In three patients the investigation of the hot-spots 1A, L12 and 2B as well as of H1, did not reveal any changes. Discussion. A frequency of 14 cases per million was calculated for EBS in Slovenia, and in correlation with the data published in the literature, mutations were found within one of the main hot-spot regions linked to EBS, the L12 linkers of K5 and K14.
Descriptors		EPIDERMOLYSIS BULLOSA SIMPLEX KERATIN MUTATION