KEGG DISEASE: Ichthyosis vulgaris

KEGG

DISEASE: Ichthyosis vulgaris

Entry

H00735                      Disease

Name

Ichthyosis vulgaris

Supergrp

Congenital ichthyosis [DS:H01771]

Description

Ichthyosis vulgaris is one of the most common genetic keratinization disorder characterized by follicular keratosis and grey scaling on the flexor limbs. It is caused by defective synthesis of filaggrin that leads to reduction of keratohyalin granules in epidermis. The condition is inherited in an autosomal dominant pattern.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
14 Diseases of the skin
  Genetic and developmental disorders affecting the skin
   EC20  Genetic disorders of keratinisation
    H00735  Ichthyosis vulgaris

Gene

FLG [HSA:2312] [KO:K10384]

Drug

Ammonium lactate [DR:D02920]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

Reference

Authors

Akiyama M, Shimizu H

Title

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

Journal

Exp Dermatol 17:373-82 (2008)
DOI:10.1111/j.1600-0625.2007.00691.x

Reference

Authors

Oji V, Traupe H

Title

Ichthyoses: differential diagnosis and molecular genetics.

Journal

Eur J Dermatol 16:349-59 (2006)

Reference

Authors

Smith FJ, Irvine AD, Terron-Kwiatkowski A, Sandilands A, Campbell LE, Zhao Y, Liao H, Evans AT, Goudie DR, Lewis-Jones S, Arseculeratne G, Munro CS, Sergeant A, O'Regan G, Bale SJ, Compton JG, DiGiovanna JJ, Presland RB, Fleckman P, McLean WH

Title

Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris.

Journal

Nat Genet 38:337-42 (2006)
DOI:10.1038/ng1743

Reference

Authors

Anderson B

Title

The Effect of Dietary Change in a Patient With Ichthyosis Vulgaris: A Case Report.

Journal

Integr Med (Encinitas) 14:55-8 (2015)

LinkDB

» Japanese version

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