Junctional epidermolysis bullosa (medicine)
Junctional epidermolysis bullosa (medicine) | |
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Specialty | Dermatology |
Junctional epidermolysis bullosa is a skin condition characterized by blister formation within the lamina lucida of the basement membrane zone.[1]: 599 [2]
Signs and symptoms
People with the condition experience very fragile skin, with blisters and skin erosion occurring in response to relatively benign trauma. Blisters may form all over the body, including the mucous membranes. Chronic scarring can lead to the formation of granulation tissue, which may bleed easily, predisposing to infection. Hands and fingers may be affected, as well as various joints.[3]
Pathophysiology
α6β4 integrin is a transmembrane protein found in
Diagnosis
Classification
OMIM
|
Name | Locus | Gene |
---|---|---|---|
226730 | Junctional epidermolysis bullosa with pyloric atresia | 17q11-qter, 2q31.1 | ITGA6
|
226700 | Junctional epidermolysis bullosa, Herlitz type | 18q11.2, 1q32, 1q25-q31 | LAMC2
|
226650 | epidermolysis bullosa, junctional, non-Herlitz types (Generalized atrophic benign epidermolysis bullosa, Mitis junctional epidermolysis bullosa) | 18q11.2, 1q32, 17q11-qter, 1q25-q31, 10q24.3 | ITGB4
|
Junctional epidermolysis bullosa with pyloric atresia
Junctional epidermolysis bullosa with pyloric atresia is a rare
This condition is rare with ~100 cases reported in the literature.[8]
Herlitz type
Junctional epidermolysis bullosa gravis (also known as "Herlitz disease", "Herlitz syndrome", and "Lethal junctional epidermolysis bullosa") is the most lethal type of epidermolysis bullosa, a skin condition in which most patients do not survive infancy, characterized by blistering at birth with severe and clinically distinctive periorificial granulation tissue.[1]: 599 [6]: 557 [9]
JEB-H is generally caused by mutations in one of the three laminin-332 coding genes: LAMA3 (18q11.2), LAMB3 (1q32) and LAMC2 (1q25-q31).
Non-Herlitz type
These include:
- Generalized atrophic benign epidermolysis bullosa is a skin condition that is characterized by onset at birth, generalized blisters and atrophy, mucosal involvement, and thickened, dystrophic, or absent nails.[1]: 600 [6]: 557
- Mitis junctional epidermolysis bullosa (also known as "Nonlethal junctional epidermolysis bullosa") is a skin condition characterized by scalp and nail lesions, also associated with periorificial nonhealing erosions.[1]: 599 Mitis junctional epidermolysis bullosa is most commonly seen in children between the ages of 4 and 10 years old.[1]: 600
- Cicatricial junctional epidermolysis bullosa is a skin condition characterized by blisters that heal with scarring.[6]: 557 It was characterized in 1985.[10]
Treatment
In 2015, an Italian team of scientists, led by Michele De Luca at the
The use of gentamicin has been shown to provide some attenuation of this disease.[13]
See also
References
- ^ ISBN 978-0-07-138076-8.
- S2CID 221861310.
- ^ "junctional epidermolysis bullosa". Genetics Home Reference. Retrieved 2017-10-04.
- ISBN 978-1-4698-8931-3.
- ISBN 978-0-7216-2921-6.
- ^ ISBN 978-0-7216-2921-6.
- ^ Online Mendelian Inheritance in Man (OMIM): Epidermolysis bullosa junctionalis with pyloric atresia - 226730
- S2CID 49408948.
- ISBN 978-1-4160-2999-1.
- PMID 4008687.
- PMID 29144448.
- ^ Devlin, Hannah (2017-11-08). "Scientists grow replacement skin for boy suffering devastating genetic disorder". The Guardian. Retrieved 2017-11-09.
- ^ Hammersen J, Neuner A, Wild F, Schneider H (2019) Attenuation of Severe Generalized Junctional epidermolysis bullosa by systemic treatment with gentamicin. Dermatology 1-8