SciELO - Scientific Electronic Library Online

 
vol.88 issue6  suppl.1Primary systemic amyloidosis, acquired cutis laxa and cutaneous mucinosis in a patient with multiple myelomaAcral pseudolymphomatous angiokeratoma: case report and literature review author indexsubject indexarticles search
Home Pagealphabetic serial listing  

Services on Demand

Journal

Article

Indicators

Related links

Share


Anais Brasileiros de Dermatologia

On-line version ISSN 1806-4841

Abstract

MIRANDA, Ludmilla Queirós et al. Analysis of mutations in the PIK3CA and FGFR3 genes in verrucous epidermal nevus. An. Bras. Dermatol. [online]. 2013, vol.88, n.6, suppl.1, pp.36-38. ISSN 1806-4841.  https://doi.org/10.1590/abd1806-4841.20132055.

Verrucous epidermal nevi are congenital hamartomas composed of keratinocytes and may occur alone or in association with developmental abnormalities. A close relationship between variations in the PIK3CA and FGFR3 genes and the appearance of nevi has been recently reported. Based on that, we performed molecular assays for the identification of E542K, E545G/K and H1047R mutations in the PIK3CA gene and of the R248C mutation in the FGFR3 gene. Interestingly, during the amplification process, we did not observe the PCR product of exon 9 of the PIK3CA gene, a region comprising amino acids 542-545. This strongly suggests the occurrence of a microdeletion of that region and indicates a possible allelic variant, which has not yet being described in the literature.

Keywords : Hamartoma; Mutation; Nevus.

        · abstract in Portuguese     · text in English     · English ( pdf )