Homozygosity at chromosome 8qter in individuals affected by mal de Meleda (Meleda disease) originating from the island of Meleda.

Background The inherited palmoplantar keratodermas (PPKs) are a clinically heterogeneous group of disorders characterized by thickening of the skin of the palms and the soles. These diseases also exhibit genetic heterogeneity and many autosomal dominant and recessive forms have been described. Mal de Meleda (Meleda disease, MD) is an autosomal recessive form of PPK first described on the Dalmatian island of Meleda. A gene for MD has recently been assigned to the most telomeric portion of chromosome 8q using two large Algerian families. Objectives To determine whether the same gene underlies the skin disease in Meleda islanders. Methods We have examined five affected individuals originating from the Dalmatian island itself for 8qter homozygosity. Results This region was found to be homozygous in all five affected individuals but in none of the 20 other unaffected family members examined. Conclusions The current study confirms the localization of a gene for MD to 8qter using samples from the island of Meleda, highlighting the clinical and genetic homogeneity of this condition.