The Genetic and Clinical Studies of Ichthyoses / 대한피부과학회지

ABSTRACT

This study was attempted mainly to estimate the frequency of ichthyoses and its genetic characteristics among general population in Chonnam Province. One hundredand thirtyone subjects heing comprised of 121 with ichthyosis vulgaris, 6 with X-linked recessive ichthyosis and 4 with lamellar ichthyosis visited the department of Dermatology, Chonnam National University Hospital from 1971 through 1980. All except 7 patients had visited the hospital with chief complaints of a skin problem other than ichthyoses itself. The frequency of ichthyosis vulgaris seems to be somewhere between, 1/300 and 1/400. 86% were found to either be sporadic cases or come from families from which not enough information was obtained to define a mode of inheritance. The fact that 43% of the sibling of affected patients developed ichthyosis vulgaris points out that it is a highly penetrant autosomal dominant, disease. Skipped generation was observed in 2 families, and gonadal mosaicism in 1 family. Atopic diseaaes were found only in 12.0% of cnses of ichthyosis vulgaris. The disease appeared in 81% of cases before 1 year af age. The skin lesions of ichthyoses were developed on the lower limhs, back, upper limbs, abdomen and scalp in the order of frequency.