Epidermolysis bullosa junctionalis generalized intermediaries (non-herlitz) Q81.1

Author: Prof. Dr. med. Peter Altmeyer

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Last updated on: 29.10.2020

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Synonym(s)

EBJ atrophicans mitis; EBJ-nH; Epidermolysis bullosa atrophicans generalisata mitis; Epidermolysis bullosa atrophicans generalisata mitis disentis; epidermolysis bullosa hereditaria; Epidermolysis bullosa hereditaria dystrophica; Epidermolysis bullosa junctionalis atrophicans mitis; Generalized intermediate epidermolysis bullosa junctionalis; type Disentis; Type Disentis

History
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Hashimoto, Anton-Lamprecht and Schnyder, 1976

Definition
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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).

Occurrence/Epidemiology
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Incidence at 1:50,000

Etiopathogenesis
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Autosomal recessive inheritance mode. Homozygous or "compound" heterozygous mutations in the gene for collagen XVII (COL17A1, BPAG2) are discussed, which are mapped on chromosome 10q24.3 (most gene defects are zero mutations leading to the absence of the gene product collagen type XVII in the skin) as well as the heterotrimeric laminin-5 gene (especially LAMB3).

Manifestation
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Usually from birth; after mechanical trauma.

Localization
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Especially on hands, feet, head, knees or elbows.

Clinical features
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  • Integument:
    • 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.
  • Extracutaneous manifestations:
    • 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.

Histology
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  • 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 Immunofluorescence
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Decreased fluorescence of laminin-5 and collagen XVII at the bladder roof.

Differential diagnosis
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General therapy
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  • 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 therapy
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Symptomatic, see below. Epidermolysis bullosa group. Dressing with hydrogels (e.g. Intrasite) or hydrocolloid foils (e.g. Varihesive E).

Internal therapy
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Therapy with systemic glucocorticoids can be life-saving. Prednisolone (e.g. Decortin H), medium to high doses, initially 60-120 mg/day p.o., later dose reduction and minimal maintenance therapy. In case of superinfection or even sepsis, antibiotics should be administered in time.

Note(s)
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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)

Literature
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  1. 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
  2. Bichel J et al (2001) Large melanocytic nevi in generalized atrophic benign epidermolysis bullosa (epidermolysis bullosa nevi). dermatologist 52: 812-816
  3. 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
  4. 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
  5. 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
  6. Fivenson DP et al (2003) Graftskin therapy in epidermolysis bullosa. J Am Acad Dermatol 48: 886-892
  7. Guerriero C et al (2001) Non-Herlitz junctional epidermolysis bullosa without hair involvement associated with BP180 deficiency. Dermatology 202: 58-62
  8. Hashimoto I, Schnyder UW, Anton-Lamprecht I (1976) Epidermolysis bullosa hereditaria with junctional blistering in an adult. Dermatologica 152: 72-86
  9. Herlitz O (1935) Congenital non-syphilitic pemphigus: An overview and description of a new form of the disease. Acta Paediat 17: 315-371
  10. Höger P (2005) Child dermatology. Schattauer Publisher Stuttgart S 225-226
  11. 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
  12. 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
  13. 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
  14. Yancey KB et al (2010) Non-herlitz junctional epidermolysis bullosa.
    Dermatol Clin 28: 67-77.

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Last updated on: 29.10.2020