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词条 Epidermolysis bullosa simplex
释义

  1. Cause

  2. Diagnosis

     Classification 

  3. Management

  4. See also

  5. References

  6. Further reading

  7. External links

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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}}

Diagnosis

Classification

Epidermolysis bullosa simplex may be divided into multiple types:

Type Locus & Gene OMIM
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

References

1. ^Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. {{ISBN|0-07-138076-0}}.
2. ^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. ^{{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

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