Ph.D. értekezés BECKER KRISZTINA - Semmelweis Egyetem ...

1. SUMMARY
Ultrastructural and genetic studies in ichthyoses
Krisztina Becker M.D.
Leader of the program: Prof. Dr. András Falus Ph.D., DSc.
corresponding member of the Hungarian Academy of Sciences
Tutor: Prof. Dr. Sarolta Kárpáti Ph.D., DSc.
Semmelweis University
Ph.D. School
Basis of the Human Molecular Genetics and Gene Diagnostics
Budapest, 2002
Topic of this work is a more precise definition of ichthyosis, a rarely investigated
dermatosis in Hungary so far, using ultrastructural and genetic studies in certain severe
subgroups of the disease. Ichthyosis comprises a group of disorders underlying different
genetic causes, sharing the common features of hereditary nature and dry, scaly skin due
to disorders of cornification.
Frequently occuring mild vulgar, rare severe congenital forms and ichthyotic skin
symptoms associated with disturbancies in other organ systems (symptomatic forms)
are clinically distinguished within this inherited group of disorders.
We analysed micromorphology of various sub-groups and mutations underlying
the ultrastructural features in severe autosomal recessive ichthyosis and X-dominant
ichthyosis (Conradi-Hünermann-Happle syndrome). We identified four novel,
unpublished mutations in three patients. We report about the first Hungarian mutation
analyses in ichthyosis.
Our results proved the importance of ultrastructural investigations in the definition
of the phenotype. Disclosure of mutations connected to ultrastructural characteristics
may widen our knowledge about genotype-phenotype correlations in this group of
inherited diseases.
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