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Partially disturbed lamellar granule secretion in mild congenital ichthyosiform erythroderma with ALOX12B mutations
Author(s) -
Akiyama M.,
Sakai K.,
Yanagi T.,
Tabata N.,
Yamada M.,
Shimizu H.
Publication year - 2010
Publication title -
british journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.304
H-Index - 179
eISSN - 1365-2133
pISSN - 0007-0963
DOI - 10.1111/j.1365-2133.2010.09745.x
Subject(s) - lamellar ichthyosis , ichthyosis , erythroderma , congenital ichthyosis , phenotype , chemistry , genetics , endocrinology , biology , dermatology , medicine , gene
Congenital ichthyosiform erythroderma (CIE) (OMIM 242100) is a major type of autosomal recessive congenital ichthyosis (ARCI) showing generalized scaling and erythroderma without blister formation. 1 Mutations in ALOX12B (OMIM 603741), encoding 12 R ‐lipoxygenase (LOX), were identified in patients with CIE in 2002. 2 To date, several ALOX12B mutations have been reported in CIE families. 3,4 LOXs are a family of nonhaem, iron‐containing dioxygenases which catalyse dioxygenation of fatty acids with one or more ( Z,Z )‐1,4‐pentadiene moieties. 5 Three members of the human LOX family, 15‐LOX‐2, 12 R ‐LOX and e LOX‐3, are preferentially expressed in the skin. 5,6 The 12 R ‐LOX pathway leads to hepoxilin B3 and trioxilin B3 7 resulting in 20‐carboxy‐trioxilin A3, 5 which is thought to be a key biological regulator in the skin. 8 12 R ‐LOX deficiency results in a CIE phenotype in humans 2,9,10 and in mice. 11,12 We report that a Japanese patient with CIE, harbouring one previously unreported ALOX12B mutation p.Arg442Gln and another known mutation p.Arg432X, showed partially disturbed secretion of lamellar granule (LG) contents in the epidermis.