Lower leg of a 12 month infant with ichthyosis bullosa of Siemens
Specialty
Medical genetics
Ichthyosis bullosa of Siemens is a type of familial, autosomal dominant ichthyosis, a rare skin disorder.[1]: 491 It is also known as bullous congenital ichthyosiform erythroderma of Siemens or ichthyosis exfoliativa. It is a genetic disorder with no known cure which is estimated to affect about 1 in 500,000 people.[2]
^Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.
^Caputo, Ruggero and Tadini, Gianluca: Atlas of Genodermatoses, Page 19, Published by Taylor & Francis, 2005, ISBN 1-84184-251-6
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spinous layer of epidermal keratinocytes and mutations in the gene encoding this protein have been associated with ichthyosisbullosaofSiemens. GRCh38: Ensembl...
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ichthyosiform erythroderma and keratin 2e that cause ichthyosisbullosaofSiemens". The British Journal of Dermatology. 145 (2): 330–335. doi:10.1046/j.1365-2133...
telangiectasia hypochondrogenesis ichthyosisbullosaofSiemens Kniest dysplasia Kabuki syndrome maturity onset diabetes of the young type 3 methylmalonic...
disorder of one of the keratin genes.[citation needed] An example is monilethrix. The first to be identified was epidermolysis bullosa simplex. Examples of keratin...
keratin proteins in the skin can cause disease. Of note, other structural proteins in the epidermis of the skin that are closely related to keratins may...
A number of gene mutations have been linked to conditions of or affecting the human integumentary system. List of radiographic findings associated with...
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