Epidermolysis bullosa simplex with mottled pigmentation: a family report and review Articles uri icon

authors

  • ECHEVERRIA-GARCIA, BEGOÑA
  • VICENTE, ASUNCION
  • HERNANDEZ, ANGELA
  • MASCARO, JOSE M.
  • COLMENERO, ISABEL
  • TERRON, ANA
  • ESCAMEZ TOLEDANO, MARIA JOSE
  • RIO NECHAEVSKY, MARCELA ANDREA DEL
  • GONZALEZ-ENSEÑAT, MARIA A.
  • TORRELO, ANTONIO

publication date

  • November 2013

start page

  • 125

end page

  • 131

issue

  • 6

volume

  • 30

international standard serial number (ISSN)

  • 0736-8046

electronic international standard serial number (EISSN)

  • 1525-1470

abstract

  • Epidermolysis bullosa simplex with mottled hyperpigmentation (EBS-MP) is an uncommon subtype of EBS. Its clinical features depend on the age of diagnosis, and clinical variations have been described even within family members. We present six cases from two unrelated Spanish families each with several affected members with EBS-MP and review the clinical and genetic findings in all reported patients. We highlight the changing clinical features of the disease throughout life.

keywords

  • hyper-pigmentation; kindler syndrome; japanese family; p25l mutation; krt5 gene; keratin-5; confirmation; phenotype; domain