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Ichthyosis bullosa of Siemens(IBS)

MedGen UID:
98153
Concept ID:
C0432306
Congenital Abnormality
Synonyms: Bullous type of ichthyosis; IBS; Ichthyosis, bullous type; Superficial epidermolytic ichthyosis
SNOMED CT: Ichthyosis bullosa of Siemens (254169002)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Gene (location): KRT2 (12q13.13)
 
Monarch Initiative: MONDO:0007813
OMIM®: 146800
Orphanet: ORPHA455

Definition

Ichthyosis bullosa of Siemens (IBS) is an autosomal dominant congenital bullous ichthyosis without erythroderma. Blistering occurs in response to mild physical trauma and results in superficial erosion ('molting') of the outer skin, particularly on flexures, shins, and the periumbilical region. Keratin filament aggregates are seen by electron microscopy in the granular and upper spinous layers of the epidermis (summary by McLean et al., 1994). [from OMIM]

Clinical features

From HPO
Epidermolytic ichthyosis
MedGen UID:
38179
Concept ID:
C0079153
Disease or Syndrome
Epidermolytic hyperkeratosis is a skin disorder that is present at birth. Affected babies may have very red skin (erythroderma) and severe blisters. Because newborns with this disorder are missing the protection provided by normal skin, they are at risk of becoming dehydrated and developing infections in the skin or throughout the body (sepsis).\n\nAs affected individuals get older, blistering is less frequent, erythroderma becomes less evident, and the skin becomes thick (hyperkeratotic), especially over joints, on areas of skin that come into contact with each other, or on the scalp or neck. This thickened skin is usually darker than normal. Bacteria can grow in the thick skin, often causing a distinct odor.\n\nEpidermolytic hyperkeratosis can be categorized into two types. People with PS-type epidermolytic hyperkeratosis have thick skin on the palms of their hands and soles of their feet (palmoplantar or palm/sole hyperkeratosis) in addition to other areas of the body. People with the other type, NPS-type, do not have extensive palmoplantar hyperkeratosis but do have hyperkeratosis on other areas of the body.\n\nEpidermolytic hyperkeratosis is part of a group of conditions called ichthyoses, which refers to the scaly skin seen in individuals with related disorders. However, in epidermolytic hyperkeratosis, the skin is thick but not scaly as in some of the other conditions in the group.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVIchthyosis bullosa of Siemens
Follow this link to review classifications for Ichthyosis bullosa of Siemens in Orphanet.

Professional guidelines

PubMed

Hofmann B, Stege H, Ruzicka T, Lehmann P
Br J Dermatol 1999 Oct;141(4):642-6. doi: 10.1046/j.1365-2133.1999.03101.x. PMID: 10583110
Irvine AD, McLean WH
Br J Dermatol 1999 May;140(5):815-28. doi: 10.1046/j.1365-2133.1999.02810.x. PMID: 10354017
Lucker GP, Steijen PM, Suykerbuyk EJ, Kragballe K, Brandrup F, van de Kerkhof PC
Acta Derm Venereol 1996 Mar;76(2):97-101. doi: 10.2340/000155557697101. PMID: 8740259

Recent clinical studies

Etiology

Chamcheu JC, Siddiqui IA, Syed DN, Adhami VM, Liovic M, Mukhtar H
Arch Biochem Biophys 2011 Apr 15;508(2):123-37. Epub 2010 Dec 19 doi: 10.1016/j.abb.2010.12.019. PMID: 21176769Free PMC Article
Hofmann B, Stege H, Ruzicka T, Lehmann P
Br J Dermatol 1999 Oct;141(4):642-6. doi: 10.1046/j.1365-2133.1999.03101.x. PMID: 10583110
Yang JM, Nam K, Kim SW, Jung SY, Min HG, Yeo UC, Park KB, Lee JH, Suhr KB, Park JK, Lee ES
J Dermatol Sci 1999 Feb;19(2):126-33. doi: 10.1016/s0923-1811(98)00055-3. PMID: 10098704
Corden LD, McLean WH
Exp Dermatol 1996 Dec;5(6):297-307. doi: 10.1111/j.1600-0625.1996.tb00133.x. PMID: 9028791
Korge BP, Krieg T
J Mol Med (Berl) 1996 Feb;74(2):59-70. doi: 10.1007/BF00196781. PMID: 8820401

Diagnosis

Chamcheu JC, Siddiqui IA, Syed DN, Adhami VM, Liovic M, Mukhtar H
Arch Biochem Biophys 2011 Apr 15;508(2):123-37. Epub 2010 Dec 19 doi: 10.1016/j.abb.2010.12.019. PMID: 21176769Free PMC Article
Akiyama M, Tsuji-Abe Y, Yanagihara M, Nakajima K, Kodama H, Yaosaka M, Abe M, Sawamura D, Shimizu H
Br J Dermatol 2005 Jun;152(6):1353-6. doi: 10.1111/j.1365-2133.2005.06598.x. PMID: 15949009
Smith F
Am J Clin Dermatol 2003;4(5):347-64. doi: 10.2165/00128071-200304050-00005. PMID: 12688839
Corden LD, McLean WH
Exp Dermatol 1996 Dec;5(6):297-307. doi: 10.1111/j.1600-0625.1996.tb00133.x. PMID: 9028791
Korge BP, Krieg T
J Mol Med (Berl) 1996 Feb;74(2):59-70. doi: 10.1007/BF00196781. PMID: 8820401

Therapy

Bygum A, Virtanen M, Brandrup F, Gånemo A, Sommerlund M, Strauss G, Vahlquist A
Acta Derm Venereol 2013 May;93(3):309-13. doi: 10.2340/00015555-1447. PMID: 22930352
Rajiv S, Rakhesh SV
Indian J Dermatol Venereol Leprol 2006 Jan-Feb;72(1):43-6. doi: 10.4103/0378-6323.19718. PMID: 16481710
Hofmann B, Stege H, Ruzicka T, Lehmann P
Br J Dermatol 1999 Oct;141(4):642-6. doi: 10.1046/j.1365-2133.1999.03101.x. PMID: 10583110
Kim SC, Hur W, Won JH, Ahn SK
J Dermatol 1995 Apr;22(4):283-8. doi: 10.1111/j.1346-8138.1995.tb03388.x. PMID: 7608386
Steijlen PM, Perret CM, Schuurmans Stekhoven JH, Ruiter DJ, Happle R
Arch Dermatol Res 1990;282(1):1-5. doi: 10.1007/BF00505636. PMID: 2138447

Prognosis

Chamcheu JC, Siddiqui IA, Syed DN, Adhami VM, Liovic M, Mukhtar H
Arch Biochem Biophys 2011 Apr 15;508(2):123-37. Epub 2010 Dec 19 doi: 10.1016/j.abb.2010.12.019. PMID: 21176769Free PMC Article
Ross R, DiGiovanna JJ, Capaldi L, Argenyi Z, Fleckman P, Robinson-Bostom L
J Am Acad Dermatol 2008 Jul;59(1):86-90. doi: 10.1016/j.jaad.2008.02.031. PMID: 18571597Free PMC Article
Irvine AD, Smith FJ, Shum KW, Williams HC, McLean WH
Clin Exp Dermatol 2000 Nov;25(8):648-51. doi: 10.1046/j.1365-2230.2000.00728.x. PMID: 11167982
Hofmann B, Stege H, Ruzicka T, Lehmann P
Br J Dermatol 1999 Oct;141(4):642-6. doi: 10.1046/j.1365-2133.1999.03101.x. PMID: 10583110
Lucker GP, Steijen PM, Suykerbuyk EJ, Kragballe K, Brandrup F, van de Kerkhof PC
Acta Derm Venereol 1996 Mar;76(2):97-101. doi: 10.2340/000155557697101. PMID: 8740259

Clinical prediction guides

Suzuki Y, Takeichi T, Tanahashi K, Muro Y, Suga Y, Ogi T, Akiyama M
Int J Mol Sci 2022 Jul 14;23(14) doi: 10.3390/ijms23147791. PMID: 35887135Free PMC Article
Ross R, DiGiovanna JJ, Capaldi L, Argenyi Z, Fleckman P, Robinson-Bostom L
J Am Acad Dermatol 2008 Jul;59(1):86-90. doi: 10.1016/j.jaad.2008.02.031. PMID: 18571597Free PMC Article
Smith F
Am J Clin Dermatol 2003;4(5):347-64. doi: 10.2165/00128071-200304050-00005. PMID: 12688839
Basarab T, Smith FJ, Jolliffe VM, McLean WH, Neill S, Rustin MH, Eady RA
Br J Dermatol 1999 Apr;140(4):689-95. doi: 10.1046/j.1365-2133.1999.02772.x. PMID: 10233323
Korge BP, Krieg T
J Mol Med (Berl) 1996 Feb;74(2):59-70. doi: 10.1007/BF00196781. PMID: 8820401

Recent systematic reviews

Ross R, DiGiovanna JJ, Capaldi L, Argenyi Z, Fleckman P, Robinson-Bostom L
J Am Acad Dermatol 2008 Jul;59(1):86-90. doi: 10.1016/j.jaad.2008.02.031. PMID: 18571597Free PMC Article

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