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 Printable version |
Epidermolysis bullosa simplex with mottled pigmentation due to de novo P25L mutation in keratin 5 in an Italian patient |
European Journal of Dermatology. Volume 16, Number 6, 620-2, November-December 2006, Genes and skin
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 Free Article
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Author(s) : Monica Pascucci, Patrizia Posteraro, Cristina Pedicelli, Alessia Provini, Luigi Auricchio, Mauro Paradisi, Daniele Castiglia |
Summary : 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. |
Keywords : epidermolysis bullosa simplex, mottled pigmentation, keratin intermediate filament, KRT5 gene P25L mutation |
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