KEGG   DISEASE: H00734Help
Entry
H00734                      Disease                                

Name
Lamellar ichthyosis (LI) and Non-bullous congenital ichthyosiform erythroderma (NBCIE)
Description
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.
Category
Congenital disorder; Skin and connective tissue disease
BRITE hierarchy
Pathway
ABC transporters
Arachidonic acid metabolism
Metabolic pathways
Gene
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:K17731]
Comment
Bullous congenital ichthyosiform erythroderma (BCIE) is described in H00691.
Other DBs
Reference
PMID:18341575 (description)
  Authors
Akiyama M, Shimizu H
  Title
An update on molecular aspects of the non-syndromic ichthyoses.
  Journal
Exp Dermatol 17:373-82 (2008)
Reference
PMID:16935789 (description, gene)
  Authors
Oji V, Traupe H
  Title
Ichthyoses: differential diagnosis and molecular genetics.
  Journal
Eur J Dermatol 16:349-59 (2006)
Reference
PMID:16481150 (description, gene)
  Authors
Akiyama M
  Title
Harlequin ichthyosis and other autosomal recessive congenital ichthyoses: the underlying genetic defects and pathomechanisms.
  Journal
J Dermatol Sci 42:83-9 (2006)
Reference
PMID:16436457 (gene)
  Authors
Lefevre C, Bouadjar B, Ferrand V, Tadini G, Megarbane A, Lathrop M, Prud'homme JF, Fischer J
  Title
Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3.
  Journal
Hum Mol Genet 15:767-76 (2006)
Reference
  Authors
Lefevre C, Bouadjar B, Karaduman A, Jobard F, Saker S, Ozguc M, Lathrop M, Prud'homme JF, Fischer J
  Title
Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis.
  Journal
Hum Mol Genet 13:2473-82 (2004)

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