Author/Editor		Miljković, Jovan; Kansky, Aleksej; Stanimirović, Andrija; Martinez-Mir, Amalija
Title		HPPK type papulosa in Slovenia
Translated title		HPPK papuloza v Sloveniji
Type		članek
Source		In: Miljković J, editor. Strokovno srečanje z mednarodno udeležbo 3. dermatološki dnevi; 2005 nov 11-12; Maribor. Maribor: Splošna bolnišnica Maribor,
Publication year		2005
Volume		str. 11-5
Language		eng
Abstract		Background. Hereditary palmoplantar keratodermas (HPPK) are relatively frequent in Slovenia. The papulosa type of HPPK, is a rare form, epidemiological data are scarse. Population study in Croatia revealed a prevalence of 1.17/100 000 inhabitants. It seems that HPPK papulosa is more frequent in Slovenia as reported in literature. Efforts were made to detect all the patients with the HPPK papulosa in Slovenia. Patients and Methods. The already existing hospital and outpatient records served as starting point. Patients and their relatives were invited for examination, visits at their homes enabled us to compose pedigrees. In an attempt to detect the molecular basis of the disease blood samples were collected following informed consent. Ten affected and four unaffected members from five unrelated pedigrees were included in this study. The linkage analysis were made in collaboration researchers from Department of Dermatology and Genetics&Development, Columbia University, New York, USA. Results. Altogether 52 patients were observed, giving a prevalence of 2.6/100.000 inhabitants. They belonged to 12 unrelated families: in one family was only one affected member, two or more affected members were found in the eleven families. An autosomal dominant mode of inheritance was confirmed. There was no history of malignancies. Thickened nails were observed in three patients. The candidate locus for PPK papulosa at a 8.89 cM interval on chromosome I5q22-q24 was confirmed. These data cosegregate with the disease phenotype in all pedigrees previous tested. Conclusions. Prevalence of HPPK papulosa in Slovenia is higher than in Croatia. In the literature forther loci are suggesting genetic heterogeneity in this condition.
Descriptors		KERATODERMA, PALMOPLANTAR PREVALENCE SLOVENIA