Y. Suga et al., A novel helix termination mutation in keratin 10 in annular epidermolytic ichthyosis, a variant of bullous congenital ichthyosiform erythroderma, J INVES DER, 111(6), 1998, pp. 1220-1223
Annular epidermolytic ichthyosis is a distinct phenotypic variant of bullou
s congenital ichthyosiform erythroderma that has recently been described in
two separate kindreds. Individuals with this variant present with bullous
ichthyosis in early childhood and hyperkeratotic lichenified plaques in the
flexural areas and extensor surfaces at later ages. Characteristically, th
ey also develop intermittent bouts of annular and polycyclic, erythematous,
scaly plaques on the trunk and proximal extremities. We now describe a thi
rd kindred with annular epidermolytic ichthyosis. Molecular analysis of thi
s family revealed a novel mutation resulting in an isoleucine to threonine
substitution at residue 107 (codon 446) within the highly conserved helix t
ermination motif at the end of the rod domain of keratin 10.