Epidermolysis bullosa simplex with mottled pigmentation due to de novo P25L mutation in keratin 5 in an Italian patient

Monica Pascucci, Patrizia Posteraro, Cristina Pedicelli, Alessia Provini, Luigi Auricchio, Mauro Paradisi, Daniele Castiglia

Research output: Contribution to journalArticlepeer-review

Abstract

Epidermolysis bullosa simplex with mottled pigmentation (EBS-MP) is an autosomal dominant inherited disorder of the skin, which manifests as recurrent blistering, punctate palmo-plantar hyperkeratoses, and mottled pigmentation of the trunk and extremities. Previous reports have identified the P25L mutation within the non-helical V1 domain of keratin 5 as the unique cause of the disease. We found this mutation in the first Italian case of EBS-MP. The proband was heterozygous for the P25L mutation, which occurred de novo as this change was not detected in the peripheral blood DNA of the healthy parents. Our report extends the limited number of EBS-MP cases and gives further evidence that mutation P25L is responsible for this unusual phenotype.

Original languageEnglish
Pages (from-to)620-622
Number of pages3
JournalEuropean Journal of Dermatology
Volume16
Issue number6
DOIs
Publication statusPublished - Nov 2006

Keywords

  • Epidermolysis bullosa simplex
  • Keratin intermediate filament
  • KRT5 gene P25L mutation
  • Mottled pigmentation

ASJC Scopus subject areas

  • Dermatology

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