HistoryThis section has been translated automatically.
DefinitionThis section has been translated automatically.
Hereditary, generalized, non-lethal, blistering dermatosis with spontaneous and post-traumatic blistering (formation of a cleft along the basement membrane) Low esophageal involvement. There is an increased tendency to develop epithelial malignancies (squamous cell carcinomas).
You might also be interested in
Occurrence/EpidemiologyThis section has been translated automatically.
Incidence at 1:50,000
EtiopathogenesisThis section has been translated automatically.
ManifestationThis section has been translated automatically.
LocalizationThis section has been translated automatically.
Clinical featuresThis section has been translated automatically.
- Mostly generalized clinical picture (see fig.) with the development of recurrent, large-area, flaccid, also bulging blisters of different sizes with serous or hemorrhagic content as well as erosions, which usually heal without further mutations with bizarrely configured reddish-brown pigmentation or whitish atrophy. Bubble formation occurs after banal trauma, but also spontaneously and intermittently (Fine JD et al. 2008).
- Less frequently, milia are observed to heal.
- In head infections mostly follicular atrophy leading to extensive alopecia, especially in the parietal capillitium. Frequently onychoatrophy or onychodystrophy.
- In 40-50% of patients there is an involvement of the eyes (blisters, scarred ectropias, corneal or conjunctival erosions). Compared to EBJ-H only minor involvement of oral mucosa and oesophagus.
- Occasional formation of melanocytic nevi
- Growth retardation
- Hypoplasia of the tooth enamel or tooth growth with increased susceptibility to caries.
HistologyThis section has been translated automatically.
- Subepidermal blistering: Bullous lifted epidermis with well preserved basal cell row in the bladder roof. Clear lymphohistiocytic infiltrates in the upper corium.
- Electron microscopy: Junctiolytic blistering.
Direct ImmunofluorescenceThis section has been translated automatically.
Decreased fluorescence of laminin-5 and collagen XVII at the bladder roof.
Differential diagnosisThis section has been translated automatically.
General therapyThis section has been translated automatically.
- Avoid mechanical trauma, bedding on special air or water-cushioned beds, soft clothing, if necessary wearing clothes from the left to avoid chafing at the seams.
- Careful personal hygiene with disinfectant baths and sterile covering of blisters and erosions.
External therapyThis section has been translated automatically.
Internal therapyThis section has been translated automatically.
Note(s)This section has been translated automatically.
Diagnostics: Clinical, histology, immunofluorescence, electron microscopy, molecular genetic examination, prenatal diagnostics if necessary. There is an increased risk of malignant development of the skin(squamous cell carcinoma of the skin, rarely malignant melanoma)
LiteratureThis section has been translated automatically.
- Bauer JW et al (2003) Type XVII collagen gene mutations in junctional epidermolysis bullosa and prospects for gene therapy. Clin Exp Dermatol 28: 53-60
- Bichel J et al (2001) Large melanocytic nevi in generalized atrophic benign epidermolysis bullosa (epidermolysis bullosa nevi). dermatologist 52: 812-816
- Castiglia D et al (2001) Novel mutations in the LAMC2 gene in non-Herlitz junctional epidermolysis bullosa: effects on laminin-5 assembly, secretion, and deposition. J Invest Dermatol 117: 731-739
- Fine JD et al (2000) Revised classification system for inherited epidermolysis bullosa: Report of the Second International Consensus Meeting on diagnosis and classification of epidermolysis bullosa. J Am Acad Dermatol 42:1051-1066
- Fine JD et al (2008) The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB. J Am Acad Dermatol 58:931-950
- Fivenson DP et al (2003) Graftskin therapy in epidermolysis bullosa. J Am Acad Dermatol 48: 886-892
- Guerriero C et al (2001) Non-Herlitz junctional epidermolysis bullosa without hair involvement associated with BP180 deficiency. Dermatology 202: 58-62
- Hashimoto I, Schnyder UW, Anton-Lamprecht I (1976) Epidermolysis bullosa hereditaria with junctional blistering in an adult. Dermatologica 152: 72-86
- Herlitz O (1935) Congenital non-syphilitic pemphigus: An overview and description of a new form of the disease. Acta Paediat 17: 315-371
- Höger P (2005) Child dermatology. Schattauer Publisher Stuttgart S 225-226
- Huber A et al (2002) Comprehensive analysis of gene expression profiles in keratinocytes from patients with generalized atrophic benign epidermolysis bullosa. Exp Dermatol 11: 75-81
- Jonkman M et al (1996) Generalized atrophic benign epidermolysis bullosa: either 180 kD bullous pemphigoid antigen or laminin 5 deficiency. Arch Dermatol 132: 145-150
- Nakano A et al (2002) Junctional epidermolysis bullosa in the Middle East: clinical and genetic studies in a series of consanguineous families. J Am Acad Dermatol 46: 510-516
- Yancey KB et al (2010) Non-herlitz junctional epidermolysis bullosa.
Dermatol Clin 28: 67-77.
Incoming links (4)Epidermolysis bullosa junctionalis generalized severe (herlitz); Generalized intermediate epidermolysis bullosa junctionalis; Laminin; Sepsis skin changes;
Outgoing links (9)Antibiotics; Carcinoma of the skin (overview); Epidermolysis bullosa hereditaria (overview); Epidermolysis bullosa junctionalis generalized severe (herlitz); Glucocorticosteroids systemic; Milia (overview); Onychoatrophy; Onychodystrophy (overview); Prednisolone;
Please ask your physician for a reliable diagnosis. This website is only meant as a reference.