Identical COL71A1 heterozygous mutations resulting in different dystrophic epidermolysis bullosa phenotypes. Issue 2 (22nd December 2017)

• Record Type: Journal Article
• Authors: Knöpfel, Nicole; Noguera‐Morel, Lucero; Hernández‐Martin, Angela; García‐Martin, Adela; García, Marta; Mencía, Ángeles; Pedrero, Rocío Maseda; de Lucas, Raúl; Escámez, Maria José; Torrelo, Antonio
• Is Part Of: Pediatric dermatology. Volume 35:Issue 2(2018)
• Page Start: e94
• Page End: e98
• Publication Date: 2017-12-22
• Subjects: COL7A1 mutation -- dystrophic epidermolysis bullosa -- genotype–phenotype correlation -- pruriginous epidermolysis bullosa; Pediatric dermatology -- Periodicals; Children -- Diseases -- Periodicals; 618.925
• DOI: 10.1111/pde.13367
• Languages: English
• ISSNs: 0736-8046

Abstract

Abstract: Dystrophic epidermolysis bullosa is a rare blistering condition caused by mutations in the COL7A1 gene. Different clinical variants have been described, with dominant and recessive inheritance, but no consistent findings have been elucidated to establish a genotype–phenotype correlation. We present three unrelated patients with two identical pathogenic compound heterozygous mutations in the COL7A1 gene that developed different clinical forms of dystrophic epidermolysis bullosa—epidermolysis bullosa pruriginosa and mild recessive non‐Hallopeau–Siemens—raising the possibility of other genetic or environmental modifying factors responsible for the phenotype of the disease.