Identical COL71A1 heterozygous mutations resulting in different dystrophic epidermolysis bullosa phenotypes. Articles uri icon

authors

  • Knopfel, Nicole
  • Noguera Morel, Lucero
  • Martin Hernandez, Angela
  • TORRELO, ANTONIO
  • GARCIA MARTIN, ADELA MARIA
  • DIEZHANDINO GARCIA, MARTA
  • MENCIA RODRIGUEZ, ANGELES
  • ESCAMEZ TOLEDANO, MARIA JOSE

publication date

  • March 2018

start page

  • E94

end page

  • E98

volume

  • 35

international standard serial number (ISSN)

  • 0736-8046

electronic international standard serial number (EISSN)

  • 1525-1470

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 bullosaepidermolysis bullosa pruriginosa and mild recessive non-Hallopeau-Siemensraising the possibility of other genetic or environmental modifying factors responsible for the phenotype of the disease.

keywords

  • COL7A1 mutation; dystrophic epidermolysis bullosa; genotype-phenotype correlation; pruriginous epidermolysis bullosa