The Keratins and Their Disorders

September 2004 in “ American journal of medical genetics. Part C, Seminars in medical genetics ”

Elizabeth L. Rugg, Irene M. Leigh

keratin keratin intermediate filaments epidermal hyperkeratosis epidermolysis bullosa simplex bullous congenital ichthyosiform erythroderma pachyonychia congenital steatocystoma multiplex ichthyosis bullosa of Siemens white sponge nevus keratin EBS BCIE PC IBS WSN

TLDR Mutations in keratin genes cause cell fragility and various skin disorders.

The article discussed diseases caused by mutations in genes encoding keratin intermediate filaments (IF), which led to a loss of structural integrity in cells expressing those keratins. This resulted in cell fragility, compensatory epidermal hyperkeratosis, and keratin filament aggregation in some tissues. The disorders included a variety of phenotypes such as epidermolysis bullosa simplex (EBS), bullous congenital ichthyosiform erythroderma (BCIE), pachyonychia congenital (PC), steatocystoma multiplex, ichthyosis bullosa of Siemens (IBS), and white sponge nevus (WSN) of the orogenital mucosa.

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research The Keratins and Their Disorders

53 citations, September 2004 in “American journal of medical genetics. Part C, Seminars in medical genetics”

Mutations in keratin genes cause cell fragility and various skin disorders.