释义 |
- Cause
- Diagnosis Classification
- Management
- See also
- References
- Further reading
- External links
{{Infobox medical condition (new) | name = Epidermolysis bullosa simplex | synonyms = | image = HandsEBS.JPG | image_size = 160px | caption = Epidermolysis bullosa simplex | pronounce = | field = | symptoms = | complications = | onset = | duration = | types = | causes = | risks = | diagnosis = | differential = | prevention = | treatment = | medication = | prognosis = | frequency = | deaths = }}Epidermolysis bullosa simplex (EBS), is a disorder resulting from mutations in the genes encoding keratin 5 or keratin 14.[1]{{rp|598}} Blister formation of EBS occurs at the dermoepidermal junction. Sometimes EBS is called epidermolytic.{{Citation needed|date=March 2009}} Cause{{Empty section|daTrauma induced blisterste=July 2017|date=July 2018}}DiagnosisClassificationEpidermolysis bullosa simplex may be divided into multiple types: Type | Locus & Gene | OMIM |
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Epidermolysis bullosa simplex with migratory circinate erythema | 12q13 (KRT5) | 609352}} | Epidermolysis bullosa simplex with mottled pigmentation.Associated with a recurrent mutation in KRT14.[2]{{rp|557}}[3][4] | 12q13 (KRT5) | 131960}} | Epidermolysis bullosa simplex, autosomal recessive | 17q12-q21 (KRT14) | 601001}} | Generalized epidermolysis bullosa simplex Also known as "Koebner variant of generalized epidermolysis bullosa simplex", presents at birth to early infancy with a predilection for the hands, feet, and extremities, and palmar-plantar hyperkeratosis and erosions may be present.[1]{{rp|598}}[2]{{rp|556}} | 17q12-q21 (KRT5), 12q13 (KRT14) | 131900}} | Localized epidermolysis bullosa simplex Also known as "Weber–Cockayne syndrome,"[4]{{rp|460}} and "Weber–Cockayne variant of generalized epidermolysis bullosa simplex", is characterized by onset in childhood or later in life, and is the most common variant of epidermolysis bullosa simplex.[1]{{rp|598}}[2]{{rp|557}} | 17q12-q21 (KRT5), 17q11-qter, 12q13 (KRT14) | 131800}} | Epidermolysis bullosa herpetiformis Also known as "Dowling-Meara epidermolysis bullosa simplex", presents at birth with a generalized distribution, often with oral mucosa involvement and variable lesions in infancy.[1]{{rp|598}}[2]{{rp|557}} | 17q12-q21 (KRT5), 12q13 (KRT14) | 131760}} | Epidermolysis bullosa simplex with muscular dystrophy A rare clinical entity, and is the only epidermolytic epidermolysis bullosa described that is not caused by a keratin mutation, presenting as a generalized intraepidermal blistering similar to the Koebner variant of generalized epidermolysis bullosa simplex, but also associated with adult onset muscular dystrophy.[1]{{rp|598}}[2]{{rp|557}}[4] | 8q24 (PLEC1) | 226670}} | Epidermolysis bullosa simplex with pyloric atresia | 8q24 (PLEC1) | 612138}} | Epidermolysis bullosa simplex of Ogna Has onset in infancy, presenting with seasonal blistering on acral areas during summer months.[1]{{rp|598}}[2]{{rp|557}}[4] | 8q24 (PLEC1) | 131950}} |
Management- no cure for EB
- treat symptomatic
- protect skin, stop blisters formation, promote healing
- prevents complications
- Necessary treatment: use oral & topical steroid for healing & prevent complication
- maintain cool environment, avoid overheating & decreases friction
See also- Epidermolysis bullosa
- List of cutaneous conditions caused by mutations in keratins
References1. ^1 2 3 4 5 Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. {{ISBN|0-07-138076-0}}. 2. ^1 2 3 4 5 James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. {{ISBN|0-7216-2921-0}}. 3. ^Harel, A, et al. "Epidermolysis Bullosa Simplex with Mottled Pigmentation Resulting from a Recurrent Mutation in KRT14." Journal of Investigative Dermatology. (2006) 126, 1654–1657. {{doi|10.1038/sj.jid.5700296}}; published online 6 April 2006. 4. ^1 2 3 {{cite book |author=Rapini, Ronald P. |author2=Bolognia, Jean L. |author3=Jorizzo, Joseph L. |title=Dermatology: 2-Volume Set |publisher=Mosby |location=St. Louis |year=2007 |pages= |isbn=978-1-4160-2999-1 |oclc= |doi= |accessdate=}}
Further reading{{Commons category}}- [https://www.ncbi.nlm.nih.gov/books/NBK1369/ GeneReviews/NCBI/UW/NIH entry on Epidermolysis Bullosa Simplex]
External links {{Medical resources | 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 | Orphanet = 304 }}{{Diseases of the skin and appendages by morphology}}{{Congenital malformations and deformations of integument}}{{Cytoskeletal defects}} 3 : Genodermatoses|Rare diseases|Cytoskeletal defects |