A. Terrinoni et al., A glutamine insertion in the 1A alpha helical domain of the keratin 4 genein a familial case of White Sponge Nevus, J INVES DER, 114(2), 2000, pp. 388-391
White Sponge Nevus (WSN) is a rare, autosomal dominant disorder that predom
inantly affects non-cornified stratified squamous epithelia. Clinically, it
is characterized by the presence of soft, white, and "spongy" plaques in t
he oral mucosa, The characteristic histopathologic features are epithelial
thickening, parakeratosis, and vacuolization of the suprabasal layer of ora
l epithelial keratinocytes. Mutations in keratin 4 (K4) and keratin 13 (K13
) genes have already been demonstrated to be responsible for WSN; the ident
ification of new keratin mutations in a stratified squamous epithelia close
ly related to epidermis is of relevance for the understanding of the bioche
mistry of intermediate filaments, and for genotype phenotype correlations.
In this study we investigated a 27-y-old, female Italian patient, affected
by white asymptomatic oral plaques. Sequence analysis revealed a 3 bp (ACA)
heterozygous insertion localized in the helix initiation motif of the 1A a
lpha helical domain of K4. We report this new K4 gene mutation and describe
an amino acid insertion, in the 1A domain, responsible for a keratin disea
se.