Ichthyosis bullosa of Siemens: report of a family with evidence of a keratin 2e mutation, and a review of the literature
- PMID:10233323
- DOI: 10.1046/j.1365-2133.1999.02772.x
Ichthyosis bullosa of Siemens: report of a family with evidence of a keratin 2e mutation, and a review of the literature
Abstract
We report a large family with ichthyosis bullosa of Siemens (IBS) including eight affected members spanning three generations. The classical features of the disease were consistently observed with blistering, superficial peeling of the skin, and localized lichenified hyperkeratosis mainly confined to the limbs. Phenotypic variation, however, was also observed with some individuals exhibiting unusual clinical features. Specifically, the index patient was erythrodermic at birth; she subsequently developed a widespread pustular eruption. Erythroderma is classically absent in IBS and pustulation is very unusual. She also had hypertrichosis of the limbs, as did an affected female first cousin. This has not previously been reported in IBS. Electron microscopy showed complex aggregates of keratin in the spinous and granular layers associated, in places, with remarkably little cell lysis. Sequencing of genomic DNA revealed a mutation (E493K) in keratin 2e. A review of the literature on IBS indicates that E493K is the most commonly reported mutation to date and might represent a mutational hotspot for this disease.
Similar articles
- Ichthyosis bullosa of Siemens resulting from a novel missense mutation near the helix termination motif of the keratin 2e gene.Moraru R, Cserhalmi-Friedman PB, Grossman ME, Schneiderman P, Christiano AM.Moraru R, et al.Clin Exp Dermatol. 1999 Sep;24(5):412-5. doi: 10.1046/j.1365-2230.1999.00514.x.Clin Exp Dermatol. 1999.PMID:10564334
- A novel mutation in the 2B domain of keratin 2e causing ichthyosis bullosa of Siemens.Irvine AD, Smith FJ, Shum KW, Williams HC, McLean WH.Irvine AD, et al.Clin Exp Dermatol. 2000 Nov;25(8):648-51. doi: 10.1046/j.1365-2230.2000.00728.x.Clin Exp Dermatol. 2000.PMID:11167982
- Ichthyosis bullosa of Siemens: its correct diagnosis facilitated by molecular genetic testing.Akiyama M, Tsuji-Abe Y, Yanagihara M, Nakajima K, Kodama H, Yaosaka M, Abe M, Sawamura D, Shimizu H.Akiyama M, et al.Br J Dermatol. 2005 Jun;152(6):1353-6. doi: 10.1111/j.1365-2133.2005.06598.x.Br J Dermatol. 2005.PMID:15949009Review.
- A glutamate to lysine mutation at the end of 2B rod domain of keratin 2e gene in ichthyosis bullosa of Siemens.Yang JM, Lee ES, Kang HJ, Choi GS, Yoneda K, Jung SY, Park KB, Steinert PM, Lee ES.Yang JM, et al.Acta Derm Venereol. 1998 Nov;78(6):417-9. doi: 10.1080/000155598442683.Acta Derm Venereol. 1998.PMID:9833038
- New mutations in keratin 1 that cause bullous congenital ichthyosiform erythroderma and keratin 2e that cause ichthyosis bullosa of Siemens.Whittock NV, Ashton GH, Griffiths WA, Eady RA, McGrath JA.Whittock NV, et al.Br J Dermatol. 2001 Aug;145(2):330-5. doi: 10.1046/j.1365-2133.2001.04327.x.Br J Dermatol. 2001.PMID:11531804Review.
Cited by
- Establishment of keratinocyte cell lines from human hair follicles.Wagner T, Gschwandtner M, Strajeriu A, Elbe-Bürger A, Grillari J, Grillari-Voglauer R, Greiner G, Golabi B, Tschachler E, Mildner M.Wagner T, et al.Sci Rep. 2018 Sep 7;8(1):13434. doi: 10.1038/s41598-018-31829-0.Sci Rep. 2018.PMID:30194332Free PMC article.
- Ichthyosis bullosa of Siemens.Ang-Tiu CU, Nicolas ME.Ang-Tiu CU, et al.J Dermatol Case Rep. 2012 Sep 28;6(3):78-81. doi: 10.3315/jdcr.2012.1107.J Dermatol Case Rep. 2012.PMID:23091584Free PMC article.
- Loss of keratin K2 expression causes aberrant aggregation of K10, hyperkeratosis, and inflammation.Fischer H, Langbein L, Reichelt J, Praetzel-Wunder S, Buchberger M, Ghannadan M, Tschachler E, Eckhart L.Fischer H, et al.J Invest Dermatol. 2014 Oct;134(10):2579-2588. doi: 10.1038/jid.2014.197. Epub 2014 Apr 21.J Invest Dermatol. 2014.PMID:24751727
- Sporadic Case of Ichthyosis Bullosa of Siemens in an Infant: A Rare Case.Vijay A, Kumar A, Saini S, Agarwal S.Vijay A, et al.Indian J Dermatol. 2021 Sep-Oct;66(5):568-570. doi: 10.4103/ijd.ijd_969_20.Indian J Dermatol. 2021.PMID:35068523Free PMC article.No abstract available.
- Deep Phenotyping of Superficial Epidermolytic Ichthyosis due to a Recurrent Mutation inKRT2.Suzuki Y, Takeichi T, Tanahashi K, Muro Y, Suga Y, Ogi T, Akiyama M.Suzuki Y, et al.Int J Mol Sci. 2022 Jul 14;23(14):7791. doi: 10.3390/ijms23147791.Int J Mol Sci. 2022.PMID:35887135Free PMC article.
Publication types
MeSH terms
Substances
Related information
Grants and funding
LinkOut - more resources
Full Text Sources
Other Literature Sources
Molecular Biology Databases
Miscellaneous