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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 ...
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.
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. [3]
Harlequin-type ichthyosis is caused by mutations in the ABCA12 gene. [4] This gene codes for a protein necessary for transporting lipids out of cells in the outermost layer of skin. [4] The disorder is autosomal recessive and inherited from parents who are carriers. [4] Diagnosis is often based on appearance at birth and confirmed by genetic ...
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]
Treatment of the epidermolysis bullosa by transplantation of laminin5 modified stem cells. Research has focused on changing the mixture of keratins produced in the skin. There are 54 known keratin genes—of which 28 belong to the type I intermediate filament genes and 26 to type II—which work as heterodimers. Many of these genes share ...
Ichthyosis vulgaris is the most common type within the ichthyoses, a diverse group of inherited skin disorders characterized by the way the skin produces keratin. These conditions all share the common trait of causing generalized skin scaling, which can range in its intensity.
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 .
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