List of cutaneous conditions caused by mutations in keratins information
See also: List of cutaneous conditions
This is a dynamic list and may never be able to satisfy particular standards for completeness. You can help by adding missing items with reliable sources.
There are many different keratin proteins normally expressed in the human integumentary system. Mutations in keratin proteins in the skin can cause disease.
Cutaneous conditions caused by mutations in keratin proteins
Pachyonychia congenita type II Steatocystoma multiplex Vellus hair cyst
81
Monilethrix
82
Alopecia areata
83
Monilethrix
85
Pure hair–nail type of ectodermal dysplasia
86
Monilethrix
Of note, other structural proteins in the epidermis of the skin that are closely related to keratins may also cause disease if mutated. Examples include:
Cutaneous conditions caused by mutations in structural proteins within the epidermis, excluding keratin proteins
syndrome may be causedbymutationsin either loricrin or GJB2. This is an example of locus heterogeneity. Listofkeratins expressed in the human integumentary...
Harlequin-type ichthyosis List of cutaneous conditions Listofcutaneousconditionscausedbymutationsinkeratins Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo...
penetrance of filaggrin mutations may be increased by household exposure to cats. Ichthyosis vulgaris Listofcutaneousconditionscausedbymutationsin keratins...
"Detection of HPV-2 and identification of novel mutationsby whole genome sequencing from biopsies of two patients with multiple cutaneous horns". Journal of Clinical...
together can also cause disease. Listofkeratins expressed in the human integumentary system Listof target antigens in pemphigus Listof immunofluorescence...
natural selection within the skin. ListofcutaneousconditionscausedbymutationsinkeratinsListofcutaneousconditions Krunic, A. L.; Palcesky, D.; Busbey...
conditions List of genes mutated in cutaneous conditionsListofcutaneousconditionscausedbymutationsinkeratins Bolognia, Jean L.; et al. (2007). Dermatology...
pigmentosa 2 protein (RP2). Allelic heterogeneity Listofcutaneousconditionscausedbymutationsinkeratins Keith BP, Robertson DL, Hentges KE (2014-12-09)...