Ichthyosis Bullosa of Siemens

An autosomal dominant form of ichthyosis characterized by generalized reddening of the skin (ERYTHEMA) and widespread blistering. The disease shows similar, but somewhat milder, clinical and histopathological findings to those in HYPERKERATOSIS, EPIDERMOLYTIC and is associated with the gene that encodes KERATIN-2A.

Also Known As:

Bullous Type of Ichthyosis; Ichthyosis, Bullous Type; Ichthyosis, Bullous Type of Siemens; Bullous Type Ichthyoses; Bullous Type Ichthyosis; Ichthyoses, Bullous Type; Ichthyosis Bullous Type; Siemens Ichthyosis Bullosa

Networked: 28 relevant articles (0 outcomes, 1 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Epidermolytic Hyperkeratosis (Bullous Congenital Ichthyosiform Erythroderma)
2.	Pachyonychia Congenita (Jadassohn-Lewandowsky Syndrome)
3.	Epidermolytic Palmoplantar Keratoderma
4.	Nevus (Nevi)
5.	Monilethrix

Experts

1.	Assaf, Sari: 1 article (03/2021)
2.	Mohamad, Janan: 1 article (03/2021)
3.	Samuelov, Liat: 1 article (03/2021)
4.	Sarig, Ofer: 1 article (03/2021)
5.	Sprecher, Eli: 1 article (03/2021)
6.	Vodo, Dan: 1 article (03/2021)
7.	Ang-Tiu, Charlene U: 1 article (09/2012)
8.	Nicolas, Marie Eleanore O: 1 article (09/2012)
9.	Kaneko, T: 1 article (05/2007)
10.	Matsuzaki, Y: 1 article (05/2007)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Ichthyosis Bullosa of Siemens:

1.	Keratin-2 (Keratin 2)IBA 11/01/1998 - "Recent studies have confirmed that ichthyosis bullosa of Siemens is caused by the mutation in the keratin 2e (K2e) gene, which is expressed in the upper spinous and granular layers. " 09/28/2012 - "Ichthyosis bullosa of Siemens (IBS) is a rare hyperkeratotic blistering condition caused by mutations in keratin 2e gene. " 05/01/2007 - "A novel H1 domain mutation in the keratin 2 gene in a Japanese family with ichthyosis bullosa of Siemens." 11/01/2000 - "A novel mutation in the 2B domain of keratin 2e causing ichthyosis bullosa of Siemens." 02/01/2000 - "Hot spot mutations in keratin 2e suggest a correlation between genotype and phenotype in patients with ichthyosis bullosa of Siemens."
2.	Keratins (Keratin)IBA 11/01/1998 - "We and others have previously shown that ichthyosis bullosa of Siemens, an autosomal dominant disorder characterized by epidermal thickening and blistering, is caused by mutations in the late-differentiation keratin K2e. " 12/01/1996 - "Mutations in palmoplantar specific keratin K9 cause epidermolytic palmoplantar keratoderma (EPPK) and mutations in the late differentiation suprabasal keratin K2e cause ichthyosis bullosa of Siemens (IBS). " 11/15/2004 - "Keratin disorders are a novel molecular category including quite different phenotypes such as epidermolysis bullosa simplex (EBS), bullous congenital ichthyosiform erthroderma (BCIE), pachyonychia congenital (PC), steatocystoma multiplex, ichthyosis bullosa of Siemens (IBS), and white sponge nevus (WSN) of the orogenital mucosa." 05/01/1999 - "At the time of writing, mutations in 15 epithelial keratins and two trichocyte keratins have been associated with human diseases which include EBS, bullous congenital ichthyosiform erythroderma, epidermolytic palmoplantar keratoderma, ichthyosis bullosa of Siemens, diffuse and focal non-epidermolytic palmoplantar keratoderma, pachyonychia congenita and monilethrix. " 02/01/1999 - "The mutations in the keratin genes expressed in the epidermis are etiologically responsible for several epidermal genetic skin diseases, such as epidermolysis bullosa simplex, epidermolytic hyperkeratosis (EHK), ichthyosis bullosa of Siemens, palmoplantar keratoderma, pachyonchia congenita and white sponge nevus. "
3.	Type II Keratins (Type II Keratin)IBA 09/01/1994 - "Linkage analysis pointed to the involvement of a keratin type II gene (12q11-13) in ichthyosis bullosa of Siemens. " 09/01/1994 - "Genetic linkage of the keratin type II gene cluster with ichthyosis bullosa of Siemens and with autosomal dominant ichthyosis exfoliativa." 03/01/1997 - "The corresponding glutamate in keratin 2e was previously reported to be frequently mutated in ichthyosis bullosa of Siemens, suggesting that this highly conserved residue may be a potential mutational hot spot in other type II keratins or nonkeratin intermediate filament proteins."
4.	Keratin-1IBA 08/01/2001 - "New mutations in keratin 1 that cause bullous congenital ichthyosiform erythroderma and keratin 2e that cause ichthyosis bullosa of Siemens." 09/01/1994 - "These data, combined with clinical observations, strongly suggest that the genes coding for keratin 1 or keratin 2e, both expressed in the suprabasal compartment of the epidermis and located in the type II gene cluster, are candidate genes for ichthyosis bullosa of Siemens and ichthyosis exfoliativa."
5.	Glutamic Acid (Glutamate)FDA Link 11/01/1998 - "A glutamate to lysine mutation at the end of 2B rod domain of keratin 2e gene in ichthyosis bullosa of Siemens." 03/01/1997 - "The corresponding glutamate in keratin 2e was previously reported to be frequently mutated in ichthyosis bullosa of Siemens, suggesting that this highly conserved residue may be a potential mutational hot spot in other type II keratins or nonkeratin intermediate filament proteins."
6.	Codon (Codons)IBA 01/01/2000 - "Our data indicate aspartic acid substitution in codon 192 in the 1A helix initiation site is deleterious to keratin filament network integrity and leads to ichthyosis bullosa of Siemens phenotype." 01/01/2000 - "We report a novel amino acid substitution mutation (asparagine-->aspartic acid) in codon 192 at the conserved 1A helix initiation site of the rod domain of KRT2E in a Japanese family with ichthyosis bullosa of Siemens. " 07/01/1997 - "We report a novel mutation in a case of ichthyosis bullosa of Siemens that results in a threonine --> proline substitution in a novel location, codon 485 in a highly conserved residue position of the IATYRKLLEGE consensus motif at the end of the 2B rod domain segment of the keratin 2e chain. "
7.	Threonine (L-Threonine)FDA Link 07/01/1997 - "A novel threonine --> proline mutation at the end of 2B rod domain in the keratin 2e chain in ichthyosis bullosa of Siemens." 07/01/1997 - "We report a novel mutation in a case of ichthyosis bullosa of Siemens that results in a threonine --> proline substitution in a novel location, codon 485 in a highly conserved residue position of the IATYRKLLEGE consensus motif at the end of the 2B rod domain segment of the keratin 2e chain. "
8.	RetinoidsIBA 11/01/1991 - "Ichthyosis bullosa of Siemens responds well to low-dosage oral retinoids."
9.	Proline (L-Proline)FDA Link 07/01/1997 - "A novel threonine --> proline mutation at the end of 2B rod domain in the keratin 2e chain in ichthyosis bullosa of Siemens." 07/01/1997 - "We report a novel mutation in a case of ichthyosis bullosa of Siemens that results in a threonine --> proline substitution in a novel location, codon 485 in a highly conserved residue position of the IATYRKLLEGE consensus motif at the end of the 2B rod domain segment of the keratin 2e chain. "
10.	Lysine (L-Lysine)FDA Link 11/01/1998 - "A glutamate to lysine mutation at the end of 2B rod domain of keratin 2e gene in ichthyosis bullosa of Siemens."

Therapies and Procedures

1.	Therapeutics 02/01/1999 - "Ichthyosis bullosa of Siemens: a topical therapy option."