abstract:Recessive dystrophic epidermolysis bullosa (also known as "Hallopeau–Siemens variant of epidermolysis bullosa" and "Hallopeau–Siemens disease") is a skin condition resulting from mutations in the gene encoding type VII collagen, COL7A1, characterized by debilitating oral lesions that produce pain, scarring, and microstomia.Freedberg, et al.
He was born with recessivedystrophicepidermolysisbullosa, a terminal genetic condition in which persistent skin problems lead to crippling deformities and, eventually, skin cancer.