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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 ...
SERCA2 protein: Darier disease Acrokeratosis verruciformis of Hopf: ATP2C1: Hailey–Hailey disease: ATP7A: Menkes kinky hair syndrome Occipital horn syndrome Cutis laxa: ATP7B: Wilson's disease: BHD: Birt–Hogg–Dubé syndrome: BLOCK153: BLOCK153: Hermansky–Pudlak syndrome type 8: BRAF: Skin melanoma: BSCL2: Berardinelli–Seip syndrome ...
Mutations of proteins that hold the cells of the skin together can cause disease. Autoantibodies against proteins that hold the cells of the skin together can also cause disease. Conditions caused by mutations in or antibodies against junctional proteins found within the epidermis of the human integumentary system.
[1] [2] Other types include atypical EV which develops due to gene mutations that cause an impaired immune system, and acquired EV which occurs due to acquired immunodeficiency. [2] [3] It is characterized by an inability to protect against HPV infection of skin. [4] [5] HPV types 5 and 8 are detected in around 90% of skin cancers in people ...
Harlequin-type ichthyosis is caused by a loss-of-function mutation in the ABCA12 gene. This gene is important in regulating protein synthesis for the development of the skin layer. Mutations in the gene cause impaired transport of lipids in the skin layer and may also lead to shrunken versions of the proteins responsible for skin development.
This deficiency occurs due to the genetic mutation(s) in the COL7A1 gene in chromosome 3. The COL7A1 gene in chromosome 3 is responsible for coding for type VII collagen, a protein that assists in helping anchor the epidermis and dermis. Thus, the skin of DEB patients is highly susceptible to severe blistering.
Noonan syndrome with multiple lentigines (NSML) which is part of a group called Ras/MAPK pathway syndromes, [2] is a rare autosomal dominant, [3] multisystem disease caused by a mutation in the protein tyrosine phosphatase, non-receptor type 11 gene . The disease is a complex of features, mostly involving the skin, skeletal and cardiovascular ...
Xeroderma pigmentosum (XP) is a genetic disorder in which there is a decreased ability to repair DNA damage such as that caused by ultraviolet (UV) light. [1] Symptoms may include a severe sunburn after only a few minutes in the sun, freckling in sun-exposed areas, dry skin and changes in skin pigmentation. [1]