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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: 29 relevant articles (0 outcomes, 1 trials/studies) for this Disease, Comments

Disease Context: Research Results

Related Diseases

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

Experts

1. Nicolas, Marie Eleanore O: 1 article (09/2012)
2. Ang-Tiu, Charlene U: 1 article (09/2012)
3. Toyomaki, Y: 1 article (05/2007)
4. Takeuchi, S: 1 article (05/2007)
5. Takeda, H: 1 article (05/2007)
6. Nishizawa, A: 1 article (05/2007)
7. Nakano, H: 1 article (05/2007)
8. Nakano, A: 1 article (05/2007)
9. Mitsuhashi, Y: 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
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."
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. "
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. "
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3. Type II Keratins (Type II Keratin)IBA
4. Bullous erythroderma ichthyosiformis congenita of BrocqIBA
5. Keratin-1IBA
6. Glutamic Acid (Glutamate)FDA Link
7. Codon (Codons)IBA
8. Threonine (L-Threonine)FDA Link
9. RetinoidsIBA
11/01/1991 - "Ichthyosis bullosa of Siemens responds well to low-dosage oral retinoids."
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10. Proline (L-Proline)FDA Link

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