Global Information Lookup Global Information

Epidermolytic hyperkeratosis information


Epidermolytic Ichthyosis (EI)
Other namesBullous epidermis ichthyosis
SpecialtyMedical genetics Edit this on Wikidata

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 

  1. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.
  2. ^ Bullous ichthyosiform erythroderma (Concept Id: C0079153) - MedGen - NCBI, retrieved 2023-08-10
  3. ^ Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.
  4. ^ synd/1036 at Who Named It?
  5. ^ 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.
  6. ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.


Cite error: There are <ref group=lower-alpha> tags or {{efn}} templates on this page, but the references will not show without a {{reflist|group=lower-alpha}} template or {{notelist}} template (see the help page).

and 25 Related for: Epidermolytic hyperkeratosis information

Request time (Page generated in 0.8049 seconds.)

Epidermolytic hyperkeratosis

Last Update:

filaments.: 562  It is possible to classify epidermolytic hyperkeratosis based upon palm and sole hyperkeratosis. This is a dominant genetic condition caused...

Word Count : 1402

Hyperkeratosis

Last Update:

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...

Word Count : 1096

Epidermolytic acanthoma

Last Update:

of epidermolytic acanthoma is unknown. Epidermolytic acanthoma is diagnosed based on clinical and histological signs. Epidermolytic hyperkeratosis is...

Word Count : 885

Ichthyosis hystrix

Last Update:

similar to epidermolytic hyperkeratosis (NPS-2 type) but there is no blistering and the hyperkeratosis is verrucous or spine-like. The hyperkeratosis is brown-grey...

Word Count : 516

Palmoplantar keratoderma

Last Update:

in which hyperkeratosis is confined to the palms and soles. The two major types can have a similar clinical appearance: Diffuse epidermolytic palmoplantar...

Word Count : 2030

Keratin 10

Last Update:

epithelial cells. Mutations in this gene are associated with epidermolytic hyperkeratosis. This gene is located within a cluster of keratin family members...

Word Count : 1082

List of skin conditions

Last Update:

pigmentation Epidermolysis bullosa simplex with muscular dystrophy Epidermolytic hyperkeratosis (bullous congenital ichthyosiform erythroderma, bullous ichthyosiform...

Word Count : 17977

Genodermatosis

Last Update:

250 people. There are also rare types of ichthyosis, such as epidermolytic hyperkeratosis, harlequin ichthyosis and so on. Michelin tyre baby syndrome...

Word Count : 2533

Killer Croc

Last Update:

backstory explains that he was born with a condition resembling epidermolytic hyperkeratosis, a disfiguring skin disorder. However, it is actually a form...

Word Count : 5733

Keratinocyte

Last Update:

subcorneal pustular dermatosis, transient acantholytic dermatosis and epidermolytic hyperkeratosis. Epidermis Skin Corneocyte Keratin HaCaT List of human cell types...

Word Count : 2752

Ichthyosis bullosa of Siemens

Last Update:

Ichthyosis bullosa of Siemens has symptoms very similar to epidermolytic hyperkeratosis but is generally milder. Ichthyosis bullosa of Siemens affects...

Word Count : 892

Albert Abraham Mason

Last Update:

common ailments. He is known for his accidental treatment of epidermolytic hyperkeratosis through hypnosis. He reportedly stumbled upon this treatment...

Word Count : 173

Keratin

Last Update:

Epidermolysis bullosa simplex Ichthyosis bullosa of Siemens Epidermolytic hyperkeratosis Steatocystoma multiplex Keratosis pharyngis Rhabdoid cell formation...

Word Count : 3016

Keratin 1

Last Update:

Kearns KS, Amos CI, Abangan DL, et al. (July 1992). "Linkage of epidermolytic hyperkeratosis to the type II keratin gene cluster on chromosome 12q". Nature...

Word Count : 1260

Keratoderma

Last Update:

subgroups:: 506  Simple keratodermas Diffuse palmoplantar keratodermas Diffuse epidermolytic palmoplantar keratoderma Diffuse nonepidermolytic palmoplantar keratoderma...

Word Count : 252

Alpha hydroxycarboxylic acid

Last Update:

cosmetic improvement of symptoms of moderate to severe xerosis, epidermolytic hyperkeratosis, and ichthyosis". Cutis. 61 (6): 347–50. PMID 9640557. Miltenberger...

Word Count : 1578

List of abbreviations for diseases and disorders

Last Update:

Excessive daytime sleepiness EEE Eastern equine encephalitis EHK Epidermolytic hyperkeratosis EMH Educable mentally handicapped EMR Educable mentally retarded...

Word Count : 112

List of OMIM disorder codes

Last Update:

pretibial; 131850; COL7A1 Epidermolytic hyperkeratosis; 113800; KRT1 Epidermolytic hyperkeratosis; 113800; KRT10 Epidermolytic palmoplantar keratoderma;...

Word Count : 18877

Keratin disease

Last Update:

Skin/hair Keratin Epidermolysis bullosa simplex skin KRT5, KRT14 Epidermolytic hyperkeratosis skin KRT1, KRT10 Ichthyosis bullosa of Siemens skin KRT2A Palmoplantar...

Word Count : 141

Type II keratin

Last Update:

disorders, such as epidermolytic hyperkeratosis (EHK) and palmoplantar keratoderma (PPK), which are characterized by hyperkeratosis and blistering of the...

Word Count : 922

Ruzicka Goerz Anton syndrome

Last Update:

retinoid (Ro 10-9359) in children with lamellar ichthyosis, epidermolytic hyperkeratosis and symmetrical progressive erythrokeratoderma". Dermatologica...

Word Count : 283

List of cutaneous conditions caused by mutations in keratins

Last Update:

mutations in keratin proteins Defective keratin type Condition(s) 1 Epidermolytic hyperkeratosis Ichthyosis hystrix of Curth–Macklin Diffuse nonepidermolytic...

Word Count : 161

List of genes mutated in cutaneous conditions

Last Update:

congenita type II KRT9 Diffuse epidermolytic palmoplantar keratoderma (Vörner keratoderma) KRT10 Epidermolytic hyperkeratosis Ichthyosis with confetti Ichthyosis...

Word Count : 108

List of verrucous carcinoma subtypes

Last Update:

keratoacanthoma Occurs in the setting of immunosuppression or with epidermolytic hyperkeratosis; May erupt in the setting of systemic lupus erythematosus Gottron's...

Word Count : 226

Knuckle pads

Last Update:

leading to fibrosis. Acrokeratoelastoidosis of Costa, camptodactyly, epidermolytic palmoplantar keratoderma, Dupuytren's disease, plantar fibromatosis...

Word Count : 1303

PDF Search Engine © AllGlobal.net