A novel helix termination mutation in keratin 10 in annular epidermolytic ichthyosis, a variant of bullous congenital ichthyosiform erythroderma

Citation
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
Citations number
17
Categorie Soggetti
Dermatology,"da verificare
Journal title
JOURNAL OF INVESTIGATIVE DERMATOLOGY
ISSN journal
0022202X → ACNP
Volume
111
Issue
6
Year of publication
1998
Pages
1220 - 1223
Database
ISI
SICI code
0022-202X(199812)111:6<1220:ANHTMI>2.0.ZU;2-F
Abstract
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.