This patient received dual molecular diagnoses. The VUS (c.5124+1G>T in COL7A1 gene) that is predicted as a null allele explains most of the clinical features of the patient to be diagnosed with Epidermolysis bullosa dystrophica [OMIM: 131750] with a dominant inheritance pattern; the VUS (c.2975G>C (p.C992S) in RTEL1 gene that is predicted consistently as damaging (Damaging for SIFT§ and Probably damaging for PolyPhen_2§) explains most of the clinical features of the patient to be diagnosed with Dyskeratosis congenita, autosomal recessive 5 [OMIM: 615190] with a dominant inheritance pattern. This evidence concerns the gene COL7A1 and dyskeratosis congenita.