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Summary

Background

Erythropoietic protoporphyria (EPP; OMIM #177000) is a rare disease that usually presents in infancy or early childhood. The uncommon adult-onset EPP is often associated with acquired somatic mutations of the FECH gene, secondary to blood dyscracias.

Methods

We investigated two sisters with adult-onset EPP.

Results

We found a novel germline mutation in the FECH gene, in trans with the common hypomorphic IVS3-48C allele.

Conclusions

The adult presentation and identical genotypes of the two sisters suggests that the late development of the condition is to an extent a function of the mutation. The exact mechanism for this delayed penetrance is not clear, although these atypical cases raise the possibility of other genetic or nongenetic disease-modifying factors.