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Medical condition
Epidermolytic Ichthyosis (EI)
Other names
Bullous epidermis ichthyosis
Specialty
Medical genetics
Epidermolytic ichthyosis (EI),[a] is a rare and severe form of ichthyosis that affects around 1 in 300,000 people. It is caused by a genetic mutation, and thus cannot be completely cured without some form of gene therapy.
While some research has been done into possible gene therapy treatments, the work hasn't yet been successfully developed to the stage where it can be routinely given to patients.
The condition involves the clumping of keratin filaments.[5][6]: 562
^Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.
^Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.
^synd/1036 at Who Named It?
^Cheng J, Syder AJ, Yu QC, Letai A, Paller AS, Fuchs E (September 1992). "The genetic basis of epidermolytic ichthyosis: a disorder of differentiation-specific epidermal keratin genes". Cell. 70 (5): 811–9. doi:10.1016/0092-8674(92)90314-3. PMID 1381287. S2CID 31906051.
^James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
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and 25 Related for: Epidermolytic hyperkeratosis information
filaments.: 562 It is possible to classify epidermolytichyperkeratosis based upon palm and sole hyperkeratosis. This is a dominant genetic condition caused...
assess minor degrees of hyperkeratosis. It can be caused by vitamin A deficiency or chronic exposure to arsenic. Hyperkeratosis can also be caused by B-Raf...
of epidermolytic acanthoma is unknown. Epidermolytic acanthoma is diagnosed based on clinical and histological signs. Epidermolytichyperkeratosis is...
similar to epidermolytichyperkeratosis (NPS-2 type) but there is no blistering and the hyperkeratosis is verrucous or spine-like. The hyperkeratosis is brown-grey...
in which hyperkeratosis is confined to the palms and soles. The two major types can have a similar clinical appearance: Diffuse epidermolytic palmoplantar...
epithelial cells. Mutations in this gene are associated with epidermolytichyperkeratosis. This gene is located within a cluster of keratin family members...
250 people. There are also rare types of ichthyosis, such as epidermolytichyperkeratosis, harlequin ichthyosis and so on. Michelin tyre baby syndrome...
backstory explains that he was born with a condition resembling epidermolytichyperkeratosis, a disfiguring skin disorder. However, it is actually a form...
subcorneal pustular dermatosis, transient acantholytic dermatosis and epidermolytichyperkeratosis. Epidermis Skin Corneocyte Keratin HaCaT List of human cell types...
Ichthyosis bullosa of Siemens has symptoms very similar to epidermolytichyperkeratosis but is generally milder. Ichthyosis bullosa of Siemens affects...
common ailments. He is known for his accidental treatment of epidermolytichyperkeratosis through hypnosis. He reportedly stumbled upon this treatment...
Kearns KS, Amos CI, Abangan DL, et al. (July 1992). "Linkage of epidermolytichyperkeratosis to the type II keratin gene cluster on chromosome 12q". Nature...
cosmetic improvement of symptoms of moderate to severe xerosis, epidermolytichyperkeratosis, and ichthyosis". Cutis. 61 (6): 347–50. PMID 9640557. Miltenberger...
disorders, such as epidermolytichyperkeratosis (EHK) and palmoplantar keratoderma (PPK), which are characterized by hyperkeratosis and blistering of the...
retinoid (Ro 10-9359) in children with lamellar ichthyosis, epidermolytichyperkeratosis and symmetrical progressive erythrokeratoderma". Dermatologica...
keratoacanthoma Occurs in the setting of immunosuppression or with epidermolytichyperkeratosis; May erupt in the setting of systemic lupus erythematosus Gottron's...
leading to fibrosis. Acrokeratoelastoidosis of Costa, camptodactyly, epidermolytic palmoplantar keratoderma, Dupuytren's disease, plantar fibromatosis...