Epidermolysis bullosa junctionalis, generalized severe (historical: Herlitz type)Q81.1

Author:Prof. Dr. med. Peter Altmeyer

All authors of this article

Last updated on: 31.10.2022

Dieser Artikel auf Deutsch

Synonym(s)

congenital nonsyphilitic pemphigus; EBJ gravis Herlitz; epidermolysis bullosa gravis; Epidermolysis bullosa hereditaria letalis; Epidermolysis bullosa junctionalis Herlitz; epidermolysis bullosa lethalis; Epidermolysis bullosa type Herlitz; Herlitz Syndrome; Junctional bullous epidermatosis; Pemphigus congenital non-syphilitic

Requires free registration (medical professionals only)

Please login to access all articles, images, and functions.

Our content is available exclusively to medical professionals. If you have already registered, please login. If you haven't, you can register for free (medical professionals only).


Requires free registration (medical professionals only)

Please complete your registration to access all articles and images.

To gain access, you must complete your registration. You either haven't confirmed your e-mail address or we still need proof that you are a member of the medical profession.

Finish your registration now

HistoryThis section has been translated automatically.

Herlitz, 1935

DefinitionThis section has been translated automatically.

Hereditary, infantile, lethal, blistering dermatosis with cleft formation along the basement membrane. Most severe form of congenital junctional epidermolysis. No oesophageal involvement.

Occurrence/EpidemiologyThis section has been translated automatically.

Incidence at 0.5/100,000 per year

EtiopathogenesisThis section has been translated automatically.

Autosomal recessive inheritance. Mutation in the genes for laminin-5(LAMA3, LAMB3, LAMC2) mapped on chromosomes 1q25/1q31. Absence of the protein in the skin results in extreme skin fragility.

ManifestationThis section has been translated automatically.

Congenital or during the first year of life.

LocalizationThis section has been translated automatically.

Especially on mechanically stressed skin areas.

Clinical featuresThis section has been translated automatically.

Integument: Large, flaccid blisters of varying size with serous or hemorrhagic contents throughout the integument.

There is an increased risk of malignant development of the skin (squamous cell carcinoma of the skin, rarely formation of malignant melanoma).

Blistering is followed by poorly healing erosions and granulation tissue, especially on the acras. Formation of strictures.

Furthermore:

  • Blister formation on the oral mucosa (50-75%).
  • Onychoatrophy or onychodystrophy (75-100%) due to subungual blistering.
  • Involvement of the eyes (blisters, scarring ectropia, corneal or conjunctival erosions) is found in more than 50% of patients.
  • Involvement of larynx, trachea/ bronchi (25-50%): this results in permanent hoarseness, stridor
  • pharynx (25-50%) eating difficulties
  • Hypoplasia of enamel or tooth growth with increased susceptibility to caries (75-100%).
  • Anemia (75-100%)
  • Pseudosyndactyly (1-10%)

HistologyThis section has been translated automatically.

Subepidermal blistering: Bullous detached epidermis with well preserved basal cell row in the blister roof. Clear lymphohistiocytic infiltrates in the upper corium.

Electron microscopy: junktiolytic blistering, reduction in number or appearance of morphologically altered hemidesmosomes.

Direct ImmunofluorescenceThis section has been translated automatically.

Decreased fluorescence of laminin-5 at the bladder roof.

Differential diagnosisThis section has been translated automatically.

Complication(s)This section has been translated automatically.

secondary infection, sepsis.

General therapyThis section has been translated automatically.

Avoidance of mechanical trauma, positioning on special air or water padded beds, soft clothing, wearing clothes from the left side if necessary to avoid chafing effects at the seams.

Careful personal hygiene with disinfecting baths and sterile covering of blisters and erosions.

External therapyThis section has been translated automatically.

Symptomatic (see below epidermolysis bullosa group). Dressing with hydrogels (e.g. Intrasite) or hydrocolloid foils (e.g. Varihesive E).

Experimental: Transplantation of autologous transgenic keratinocyte cultures. Contact:Bergmannsheil/Bochum (Hirsch T et al. 2017)

Internal therapyThis section has been translated automatically.

  • Glucocorticoids such as prednisolone, medium to high doses 60-120 mg/day (e.g. Decortin H), later minimal maintenance therapy can be life-saving. In case of superinfection or even sepsis, antibiotics should be administered in time.
  • Experimental:
    • In a study in 6 children with EB a significant improvement of symptoms was achieved by stem cell transplantation. Long-term results of this high-risk therapeutic approach are not yet available.

Progression/forecastThis section has been translated automatically.

In severe cases: Exitus lethalis (mainly due to sepsis) shortly after birth. In mild cases: persistent tendency to blistering.

LiteratureThis section has been translated automatically.

  1. Aberdam D et al (1994) Herlitz`s junctional epidermolysis bullosa is linked to mutations in the gene LAMC2 for the gamma 2 subunit of nicein/kalinin (laminin 5). Nature Genet 6: 299-304
  2. Cserhalmi-Friedman PB et al (2002) Paternal germline mosaicism in Herlitz junctional epidermolysis bullosa. Exp Dermatol 11: 468-470
  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. Herlitz O (1935) Congenital nonsyphilitic pemphigus: a review along with a description of a new form of the disease. Acta Paediat 17: 315-371
  7. Hirsch T et al (2017) Regeneration of the entire human epidermis using transgenic stem cells.
  8. Nature 551:327-332.
  9. Höger P (2005) Pediatric dermatology. Schattauer Verlag Stuttgart p 225-226.
  10. Laimer M et al (2015) Hereditary epidermolyses JDDG 13: 1125-1134.
  11. Jiang QJ et al (2002) Treatment of two patients with Herlitz junctional epidermolysis bullosa with artificial skin bioequivalents. J Pediatr 141: 553-559.
  12. Klausegger A et al. (2001) Is screening of the candidate gene necessary in unrelated partners of members of families with Herlitz junctional epidermolysis bullosa? J Invest Dermatol 116: 474-475
  13. Nakano A et al (2000) Herlitz junctional epidermolysis bullosa: novel and recurrent mutations in the LAMB3 gene and the population carrier frequency. J Invest Dermatol 115: 493-498.
  14. Parsapour K et al (2001) Herlitz junctional epidermolysis bullosa presenting at birth with anonychia: a case report and review of H-JEB. Pediatr Dermatol 18: 217-222
  15. Schmidt E, Zillikens D (2000) Autoimmune and inherited subepidermal blistering diseases: advances in the clinic and the laboratory. Adv Dermatol 16: 113-157
  16. Takizawa Y et al (2000) Mutation report: complete paternal uniparental isodisomy of chromosome 1: a novel mechanism for Herlitz junctional epidermolysis bullosa. J Invest Dermatol 115: 307-311.
  17. Tolar J et al (2012) Management of severe epidermolysis bullosa by haematopoietic transplant principles, perspectives and pitfalls. Exp Dermatol. 2012 21:896-900.

Authors

Last updated on: 31.10.2022