Epidermolysis bullosa simplex
- Epidermolysis bullosa simplex
Infobox_Disease
Name = PAGENAME
Caption =
DiseasesDB = 4334
ICD10 = ICD10|Q|81|0|q|80
ICD9 = ICD9|757.39
ICDO =
OMIM = 131900
OMIM_mult = OMIM2|131760 OMIM2|131800 OMIM2|131960 | MedlinePlus =
eMedicineSubj = derm
eMedicineTopic = 124
MeshID = D016110
Epidermolysis bullosa simplex (EBS) is a disorder resulting from mutations in the genes encoding keratin 5 or keratin 14.
Blister formation of EBS is within the basal keratinocyte of the epidermis. Sometimes EBS is called "epidermolytic".
ubtypes
There are four subtypes of EBS:
# EBS - Weber-Cockayne (EBS-WC)
# EBS - Koebner (EBS-K)
# EBS - Dowling-Meara (EBS-DM)
# EBS - Mottled pigmentation (EBS-MP)
=Weber-Cockayne=
Weber-Cockayne is the mildest form of EBS, leading to blistering of the hands and feet since these are most susceptible to frequent abrasion. The presence of heat and humidity, either through climate or physical activity, accelerates the formation of blisters. Typically, the blisters formed are tense and painful, and make walking difficult. Carefully lancing, draining and bandaging the blisters can provide relief and prevent them from expanding.
Koebner
Koebner results in generalized blisters.
Dowling-Meara
Dowling-Meara (EBS-DM) is the most severe form of EBS, leading to clusteres of blisters and spherical keratin aggregates. It results from a missense mutation in KRT5 (E477K) or one of two missense mutations in KRT14 (R125C and R125H)
Mottled pigmentation
Mottled pigmentation (EBS-MP) is caused by one missense mutation in KRT5 (I161S) or by missense mutations in the plectin gene.
ee also
*Epidermolysis bullosa
External links
*
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Look at other dictionaries:
epidermolysis bullosa simplex — epidermolysis bullosa sim·plex sim .pleks n any of several forms of epidermolysis bullosa that are marked by blister formation within the epidermis sometimes accompanied by thickening of the skin but usu. no scarring and that are chiefly… … Medical dictionary
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epidermolysis bullosa — epidermolysis bul·lo·sa bə lō sə n any of a group of inherited disorders of variable severity marked esp. by the formation of large fluid filled blisters which develop chiefly in response to minor mechanical trauma see dystrophic epidermolysis… … Medical dictionary
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Epidermolysis bullosa — (EB) ist eine genetisch bedingte Hautkrankheit, die je nach Subtyp autosomal dominant oder rezessiv vererbt wird. Ursache ist ein angeborene Mutation in bestimmten Genen, deren Genprodukte (Proteine) u. a. für den intakten zellulären Aufbau der… … Deutsch Wikipedia
simplex — see epidermolysis bullosa simplex, genital herpes simplex, HERPES SIMPLEX, ICHTHYOSIS SIMPLEX … Medical dictionary
epidermolysis — A condition in which the epidermis is loosely attached to the corium, readily exfoliating or forming blisters. [epidermis + G. lysis, loosening] e. bullosa [MIM*131800] a group of inherited chronic noninflammatory skin diseases in which large… … Medical dictionary
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Epidermolisis Bullosa — Saltar a navegación, búsqueda Espalda de niño que padece Epidermolisis Bullosa. La Epidermólisis Bullosa o Ampollar (E.B) es un conjunto de enfermedades o transtornos de la piel transmitidas genéticamente y se manifiesta por la aparición de… … Wikipedia Español
