PRSS8, encoding prostasin, is mutated in patients with autosomal recessive ichthyosis.

Ichthyosis is a genetically heterogeneous genodermatosis characterized by severely rough, dry and scaly skin. We report two consanguineous families with congenital ichthyosis. Combined positional mapping and exome sequencing of the two families revealed novel homozygous likely deleterious variants in PRSS8 (encoding prostasin) within a linkage locus on chromosome 16. One variant involved a canonical splice site and was associated with reduced abundance of the normal transcript, while the other was a missense variant that altered a highly conserved residue. The phenotype of Prss8 knockout mouse bears a striking resemblance to the one we describe in human patients, including the skin histopathology. Our data suggest a novel PRSS8-related ichthyosis disorder.

Skin Allograft after Bone Marrow Transplantation of Patient with Recessive Dystrophic Epidermolysis Bullosa.

In this study, we present a 26-year-old woman with case presentation of recessive dystrophic epidermolysis bullosa who had developed squamous cell carcinoma. The patient underwent bone marrow transplant and skin grafting with the same bone marrow donor. After excision of squamous cell carcinoma and skin grafting, no tumor was observed; thus, chemotherapy and radiation were no longer needed.