Description:
<jats:p>Lipoid proteinosis (LP) is an autosomal recessive genodermatosis known to be caused by mutations in <i>ECM1</i>. Nonsense and missense mutations are the most common variations in LP. Up to date, only 6 splice site mutations have been observed. We report on a 26-year-old female LP patient from a Turkish consanguineous family carrying a novel homozygous splice site mutation in intron 8 of the <i>ECM1</i> gene and summarize the current knowledge on <i>ECM1</i> mutations and possible genotype-phenotype correlations.</jats:p>