Work

Dystrophic epidermolysis bullosa caused by novel frameshift mutation in the COL7A1 gene: A case report

Year: 2024

Type: article

Abstract: BACKGROUND Dystrophic epidermolysis bullosa is characterized by fragile ulcerations of the skin caused by mutations in specific genes. However, genetic typing of this condition is rare. CASE SUMMARY An 11-year-old female suffered from recurrent fever, visible ulcerations of the entire skin, and severe malnutrition. Genetic testing revealed a frameshift mutation in the coding region 4047 of the 35th intron region of COL7A1 , and she was diagnosed as malnutrition-type epidermolysis bullosa. Drug therapy (immunoglobulin, fresh frozen plasma), topical therapy (silver ion dressing), fever reduction, cough relief, and promotion of gastrointestinal peristalsis are mainly used for respiratory and gastrointestinal complications. The patient’s condition improved after treatment. CONCLUSION Dystrophic epidermolysis bullosa caused by a new framework shift mutation in COL7A1 should be taken seriously.

Source: World Journal of Clinical Cases

DOI: 10.12998/wjcc.v13.i11.99256

Authors: Yan Yang, Zhi-Wei Guan, Qin-Feng Li

Institution: Tianjin Children's Hospital

Language: English

Topic: Skin and Cellular Biology Research

Subfield: Cell Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: diamond

Funder: Abeona Therapeutics