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Cutaneous conditions caused by mutations in keratin proteins Defective keratin type Condition(s) 1: Epidermolytic hyperkeratosis Ichthyosis hystrix of Curth–Macklin Diffuse nonepidermolytic palmoplantar keratoderma (Unna–Thost keratoderma) Diffuse epidermolytic palmoplantar keratoderma (Vörner keratoderma) 2 (2e) Ichthyosis bullosa of ...
Epidermolysis bullosa simplex (EBS) is a disorder resulting from mutations in the genes encoding keratin 5 or keratin 14. [ 1 ] : 598 [ 2 ] It is one of the major forms of epidermolysis bullosa , a group of genetic conditions that cause the skin to be very fragile and to blister easily.
Symptoms vary in severity and extent of skin involvement. [5] The two main types are divided into one involving palms and soles and the other without. [6] EI is caused by a genetic mutation. [6] The condition involves the clumping of keratin filaments. [5] [6] The condition is rare, affecting around 1 in 200,000 to 300,000 babies. [6]
Dystrophic epidermolysis bullosa (DEB) is an inherited variant affecting the skin and other organs. DEB is caused by genetic defects (or mutations) within the human COL7A1 gene encoding the protein type VII collagen (collagen VII). [15] DEB-causing mutations can be either autosomal dominant or autosomal recessive.
Pachyonychia congenita (often abbreviated as "PC") is a rare group of autosomal dominant skin disorders that are caused by a mutation in one of five different keratin genes. Pachyonychia congenita is often associated with thickened toenails, plantar keratoderma, and plantar pain.
A keratin disease is a genetic disorder of one of the keratin genes. [ citation needed ] An example is monilethrix . [ 1 ] The first to be identified was epidermolysis bullosa simplex .
White sponge nevus (WSN) is an extremely rare autosomal dominant [4] condition of the oral mucosa (the mucous membrane lining of the mouth). It is caused by one or more mutations in genes coding for keratin, which causes a defect in the normal process of keratinization of the mucosa.
Overall, keratin type 2 plays a crucial role in maintaining the strength and integrity of the skin, hair, and nails. Mutations in keratin genes can lead to various genetic disorders that affect these tissues, such as epidermolysis bullosa simplex, a rare condition characterized by blistering and erosion of the skin and mucous membranes. [3]
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