Epidermolysis bullosa simplex generalized severe (dowling-meara) Q81.8

Most severe form of the Epidermolysis bullosa group. Generalized blistering, with involvement of the oral mucosa and also the larynx (hoarse voice).

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.

Usually during the first 3 months of life or in the course of the 1st year of life.

Mostly palmar, plantar, fingernails, perioral, trunk and neck.

• 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
• Extracutaneous manifestations:
  • Blistering of the oral mucosa and larynx (hoarseness), danger of laryngeal stenosis
  • Oesophageal involvement
  • Dental anomalies

• Intraepidermal blistering.
• Electron microscopy: agglutination of the tonofilaments in the stratum basale.

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.

1. Chan YM et al (1996) Genetic analysis of a severe case of Dowling-Meara epidermolysis bullosa simplex. J Invest Dermatol 106: 327-334
2. Dowling GB; Meara RH (1954) Epidermolysis bullosa dermatitis herpetiformis. Brit J Derm 66: 139-143
3. 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
4. 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
5. Fivenson DP et al (2003) Graftskin therapy in epidermolysis bullosa. J Am Acad Dermatol 48: 886-892
6. Höger P (2005) Child dermatology. Schattauer Publisher Stuttgart S 225-226
7. Laimer M et al (2015) Hereditary epidermolysis JDDG 13: 1125-1134
8. 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

9. Wally V et al (2013) Topical diacerein for epidermolysis bullosa: a randomized controlled pilot study. Orphanet J Rare Dis 8:69.