RESUMO
Epidermolysis bullosa (EB) is a group of rare genetic diseases that exhibit mechanical fragility of the skin. This condition will result in the occurrence of skin blisters, skin erosions, and skin ulcerations when the skin is subjected to trauma. In this case report, we present a case of EB and multiple skeletal deformities in a 21-year-old female. She came to our clinic with recurrent skin exfoliations and blisters that occurred since she was 4 years old and multiple bones bowing since she was 9 years old. On physical examinations, we found generalized hypopigmentation macule with erythematous skin. There were numerous bullae and crusted lesions, with erosion and excoriations on the lesions. Laboratory examinations identified low vitamin D 25-OH (8.6 ng/mL). Bone densitometry measurement found low bone density, and X-ray examination found osteopenia and bone bowing. Using whole-exome sequencing, no causative pathogenic sequence or copy number variants in the genes associated with Mendelian inherited disorders were detected. The low levels of vitamin D 25-OH may most likely be the main reason for the occurrence of rickets in this patient aside from the genetic disorder.
