KEGG DISEASE: Ichthyosis bullosa of Siemens

KEGG

DISEASE: Ichthyosis bullosa of Siemens

Entry

H00693                      Disease

Name

Ichthyosis bullosa of Siemens

Description

Ichthyosis Bullosa of Siemens (IBS) is an autosomal dominant disorder characterized by mild hyperkeratosis and blister formation. The blistering is superficial, and areas of peeling of the skin are known as the 'Mauserung phenomenon'. IBS shows similar features to those in epidermolytic hyperkeratosis, but can be distinguished by the absence of erythema.

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
    H00693  Ichthyosis bullosa of Siemens

Gene

KRT2E [HSA:3849] [KO:K07605]

Comment

Ichthyosis bullosa of Siemens is a milder form of Bullous congenital ichthyosiform erythroderma (BCIE) described in H00691.

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

Reference

Authors

Suga Y, Arin MJ, Scott G, Goldsmith LA, Magro CM, Baden LA, Baden HP, Roop DR

Title

Hot spot mutations in keratin 2e suggest a correlation between genotype and phenotype in patients with ichthyosis bullosa of Siemens.

Journal

Exp Dermatol 9:11-5 (2000)
DOI:10.1034/j.1600-0625.2000.009001011.x

Reference

Authors

Akiyama M, Tsuji-Abe Y, Yanagihara M, Nakajima K, Kodama H, Yaosaka M, Abe M, Sawamura D, Shimizu H

Title

Ichthyosis bullosa of Siemens: its correct diagnosis facilitated by molecular genetic testing.

Journal

Br J Dermatol 152:1353-6 (2005)
DOI:10.1111/j.1365-2133.2005.06598.x

Reference

Authors

Basarab T, Smith FJ, Jolliffe VM, McLean WH, Neill S, Rustin MH, Eady RA

Title

Ichthyosis bullosa of Siemens: report of a family with evidence of a keratin 2e mutation, and a review of the literature.

Journal

Br J Dermatol 140:689-95 (1999)
DOI:10.1046/j.1365-2133.1999.02772.x

LinkDB

» Japanese version

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