Epidermolysis Bullosa and Rickets in a 21-Year-Old Female: A Case Report

Epidermolysis Bullosa and Rickets in a 21-Year-Old Female: A Case Report

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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 2 lb m&m bag 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 wax halloween candy 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.