Geneticists share the family jewels: how inbreeding has contributed to understanding hereditary skin disease.

BACKGROUND

Offspring resulting from consanguineous marriages have been important in advancing research in genodermatoses.

OBJECTIVE

The concepts of consanguinity and inbreeding are reviewed and their contributions to research in hereditary skin diseases explained.

METHODS

Examples are given in which inbred individuals with hereditary skin disease have increased our knowledge of skin disease genetics.

RESULTS

An enhanced understanding of the genetics of xeroderma pigmentosum, lamellar ichthyosis, and Werner's syndrome, among others, has arisen from the observation of populations and families in which inbreeding has occurred.

CONCLUSION

Populations practicing inbreeding and consanguineous marriages in generally outbred populations have provided important observations for determining the inheritance pattern of several genodermatoses and for identifying the responsible genes.