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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. [3]
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]
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.
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.
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 .
Keratin 9 is a protein that in humans is encoded by the KRT9 gene. [5] [6] Keratin 9 is a type I cytokeratin. It is found only in the terminally differentiated epidermis of palms and soles. Mutations in the gene encoding this protein cause epidermolytic palmoplantar keratoderma. [7]
NFJS is caused by mutations in the keratin 14 (KRT14) gene, located on chromosome 17q12-21. [3] [5] The disorder is inherited in an autosomal dominant manner, which means that the defective gene responsible for a disorder is located on an autosome (chromosome 17 is an autosome), and only one copy of the defective gene is sufficient to cause the disorder, when inherited from a parent who has ...