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Epidermolysis bullosa simplex generalized severe (dowling-meara)Q81.8
Synonym(s)
HistoryThis section has been translated automatically.
DefinitionThis section has been translated automatically.
Most severe form of the Epidermolysis bullosa group. Generalized blistering, with involvement of the oral mucosa and also the larynx (hoarse voice).
EtiopathogenesisThis section has been translated automatically.
Autosomal-dominant inheritance of mutations on the KRT 5 gene (HKRT5 gene also KRT5 gene) or KRT14 gene, which lead to missing or reduced expression of the proteins keratin 5 or keratin 14.
ManifestationThis section has been translated automatically.
Usually during the first 3 months of life or in the course of the 1st year of life.
LocalizationThis section has been translated automatically.
Mostly palmar, plantar, fingernails, perioral, trunk and neck.
Clinical featuresThis section has been translated automatically.
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Integument:
- herpetiform grouped, bulging, serous or haemorrhagic blisters or blisters that usually heal without scarring.
- milia or focal atrophy with hyper- or hypopigmentation
- rather discrete palmar or plantar hyperkeratoses
- Nail dystrophies in the form of nail thickening already occur in infancy. Also Anonychia.
- telogenic effluvium
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Extracutaneous manifestations:
- Blistering of the oral mucosa and larynx (hoarseness), danger of laryngeal stenosis
- Oesophageal involvement
- Dental anomalies
HistologyThis section has been translated automatically.
- Intraepidermal blistering.
- Electron microscopy: agglutination of the tonofilaments in the stratum basale.
TherapyThis section has been translated automatically.
Progression/forecastThis section has been translated automatically.
Phytotherapy externalThis section has been translated automatically.
The diacerein extracted from the drug Rhei radix, the hard barber root, was successfully tested as a 1% application form in a clinical study. In this smaller study (n= 17) 60% of the participants achieved an improvement in blister formation.
LiteratureThis section has been translated automatically.
- Chan YM et al (1996) Genetic analysis of a severe case of Dowling-Meara epidermolysis bullosa simplex. J Invest Dermatol 106: 327-334
- Dowling GB; Meara RH (1954) Epidermolysis bullosa dermatitis herpetiformis. Brit J Derm 66: 139-143
- 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
- Höger P (2005) Child dermatology. Schattauer Publisher Stuttgart S 225-226
- Laimer M et al (2015) Hereditary epidermolysis JDDG 13: 1125-1134
- Shemanko CS (2000) Laryngeal involvement in the Dowling-Meara variant of epidermolysis bullosa simplex with keratin mutations of severely disruptive potential. Br J Dermatol 142: 315-320
Wally V et al (2013) Topical diacerein for epidermolysis bullosa: a randomized controlled pilot study. Orphanet J Rare Dis 8:69.