H00693 | |
H number | H00693 |
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 |
Network | - |
Gene | KRT2E [HSA:3849] [KO:K07605] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | Ichthyosis bullosa of Siemens is a milder form of Bullous congenital ichthyosiform erythroderma (BCIE) described in H00691. |
Other DBs | ICD-11: EC20.03 ICD-10: Q80.8 MeSH: D053560 OMIM: 146800 |
Reference | PMID:10688369 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 PMID:15949009 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 PMID:10233323 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 |