Lamellar ichthyosis (LI) and Non-bullous congenital ichthyosiform erythroderma (NBCIE)

Autosomal recessive congenital ichthyoses comprise a heterogeneous group of skin disorders of hyperkeratosis. Two non-syndromic forms are defined including lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NBCIE). LI shows more severe phonotype with tight covering of a newborn that is later replaced by large, dark scales. In contrast, NBCIE shows a more pronounced erythroderma with fine, white scaling.

Congenital disorder; Skin and connective tissue disease

TGM1 [HSA:7051] [KO:K05619]
ABCA12 [HSA:26154] [KO:K05646]
ALOX12B [HSA:242] [KO:K08021]
ALOXE3 [HSA:59344]
ICHYN [HSA:348938]
CYP4F22 [HSA:126410] [KO:K00490]

Bullous congenital ichthyosiform erythroderma (BCIE) is described in H00691.

PMID:18341575 (description)

Akiyama M, Shimizu H

An update on molecular aspects of the non-syndromic ichthyoses.

Exp Dermatol 17:373-82 (2008)

PMID:16935789 (description, gene)

Oji V, Traupe H

Ichthyoses: differential diagnosis and molecular genetics.

Eur J Dermatol 16:349-59 (2006)

PMID:16481150 (description, gene)

Akiyama M

Harlequin ichthyosis and other autosomal recessive congenital ichthyoses: the underlying genetic defects and pathomechanisms.

J Dermatol Sci 42:83-9 (2006)

PMID:16436457 (gene)

Lefevre C, Bouadjar B, Ferrand V, Tadini G, Megarbane A, Lathrop M, Prud'homme JF, Fischer J

Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3.

Hum Mol Genet 15:767-76 (2006)

PMID:15317751

Lefevre C, Bouadjar B, Karaduman A, Jobard F, Saker S, Ozguc M, Lathrop M, Prud'homme JF, Fischer J

Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis.

Hum Mol Genet 13:2473-82 (2004)