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 or developmental disorders affecting the skin
   EC20  Genetic disorders of keratinisation
    H00693  Ichthyosis bullosa of Siemens
Pathway-based classification of diseases [BR:br08402]
 Cellular processes
  nt06545  Cornified envelope formation
   H00693  Ichthyosis bullosa of Siemens
Network
nt06545 Cornified envelope formation
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: EC20.03
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
Reference
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
Reference
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
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