List of cutaneous conditions caused by mutations in keratins

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 Defective keratin type Condition(s) 1 Epidermolytic hyperkeratosisIchthyosis hystrix of Curth–MacklinDiffuse nonepidermolytic palmoplantar keratoderma (Unna–Thost keratoderma)Diffuse epidermolytic palmoplantar keratoderma (Vörner keratoderma) 2 (2e) Ichthyosis bullosa of Siemens 3 Meesmann corneal dystrophy 4 White sponge nevus 5 Epidermolysis bullosa simplexDowling–Degos' diseaseOlmsted syndrome 6a Pachyonychia congenita type I 6b Pachyonychia congenita type II 7 8 9 Diffuse epidermolytic palmoplantar keratoderma (Vörner keratoderma) 10 Epidermolytic hyperkeratosisIchthyosis with confettiIchthyosis hystrix 11 12 Meesmann corneal dystrophy 13 White sponge nevus 14 Epidermolysis bullosa simplexNaegeli–Franceschetti–Jadassohn syndromeDermatopathia pigmentosa reticularisOlmsted syndrome 15 16 Pachyonychia congenita type I 17 Pachyonychia congenita type IISteatocystoma multiplexVellus 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 Defective protein Conditions(s) Loricrin Vohwinkel syndromeVohwinkel syndrome may be caused by mutations in either loricrin or GJB2. This is an example of locus heterogeneity.Progressive symmetric erythrokeratodermia Filaggrin Ichthyosis vulgarisAtopic dermatitis

Footnotes

List of cutaneous conditions caused by mutations in keratins

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