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 Printable version |
Congenital acantholytic dyskeratotic epidermal naevus following Blaschko’s lines versus segmental Darier’s disease |
European Journal of Dermatology. Volume 17, Number 2, 130-2, March-April 2007, Genes and skin
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 Free Article
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Author(s) : WK Huh, K Fujiwara, H Takahashi, J Kanitakis |
Summary : A Japanese newborn male with an unremarkable family history presented at birth with verrucous papules on the left side of the trunk and limbs, distributed along Blaschko’s lines. Histological examination showed mild acantholytic dyskeratosis, consistent with Darier’s disease\; however, search for mutations of the SERCA gene, performed on DNA extracted from cells from involved and uninvolved skin and peripheral blood proved negative. The absence of detectable SERCA mutations did not allow confirmation of the diagnosis of (segmental) Darier’s disease, and a tentative diagnosis of congenital acantholytic dyskeratotic epidermal nevus was considered. The relationship between the two conditions is briefly discussed. |
Keywords : Acantholytic dyskeratotic epidermal nevus, Segmental Darier’s disease, Acantholytic dyskeratosis, Blaschko’s lines, Post-zygotic mutation, SERCA |
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