Epidermolysis bullosa dystrophica dominans, generalized Q81.2

Author: Prof. Dr. med. Peter Altmeyer

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Last updated on: 01.07.2022

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Cockayne-Touraine syndrome; Epidermolysis bullosa dystrophica dominans; Epidermolysis bullosa dystrophica localisata; Epidermolysis bullosa hereditaria dystrophica dominans; epidermolysis bullosa hyperplastica; generalised dominant EMCDDA

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Elliot, 1895; Cockayne, 1938; Touraine, 1943

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Autosomal dominant inherited blistering disease manifested at birth with scarring blistering below the lamina lucida of the basement membrane of the epidermis (subepidermal - dermolytic blistering). The blistering genodermatosis (like all dystrophic epidermolyses) is due to a mutation in the COL7A1 gene, which codes for collagen VII, a structural protein essential for the stability of the anchoring fibrils in the dermoepidermal basement membrane.

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Autosomal-dominant inheritance of a mutation of the COL7A1 gene mapped on the gene locus 3p21.3 Gene product is collagen type VII.

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Clinical symptoms already detectable at birth

Clinical features
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  • Generalized, disseminated skin involvement with localized or confluent blisters of various sizes and extensive erosions, but without mutilations, healing is very delayed, with flat, white atrophic scars. Frequent formation of milia. Subungual blistering is typical, leading to partial or total nail loss; scarring alopecia (blistering at the capillitium with scarring healing) is less common.
  • In dominant dystrophic epidermolysis, there is an increased risk of malignancy , which is reported up to the age of 30 (!) for basal cell carcinoma with a probability of occurrence of 0.9% and for malignant melanoma with a probability of occurrence of 0.8%.

Extracutaneous involvement:

  • Iron deficiency anemia(10-25%).
  • Involvement of oral mucosa with residual leukoplakia (50-75%).
  • Enamel defects (10-25%), note: mutant structural proteins interfere with odontomorphogenesis!
  • Involvement of the digestive tract (10-25%)

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Subepidermal blistering. Electron microscopic: Dermolytic blistering below the lamina densa. Anchoring fibrils rudimentary or reduced in number.

Differential diagnosis
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Symptomatic, see below. Epidermolysis bullosa group.

If necessary, topical glucocorticoids or intralesional injection with triamcinolone acetonide (Volon A-10 crystal suspension diluted 1:3 to 1:5 with physiological NaCl solution).

Surgical removal of individual affected areas with coverage is recommended.

In infancy, trial with high-dose vitamin E (tocopherol acetate) 25 mg/day/kg bw.

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  2. Cockayne EA (1933) Inherited Abnormalities of the Skin and Appendages. (London) Oxford University Press
  3. Elliot GT (1895) Two cases of epidermolysis bullosa. Journal of Cutaneous and Genitourinary Diseases (Chicago) 13: 10-18
  4. 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. Herlitz O (1935) Congenital non-syphilitic pemphigus: An overview and description of a new form of the disease. Acta Paediat 17: 315-371
  8. Höger P (2005) Child dermatology. Schattauer Publisher Stuttgart S 235-236
  9. Kon A (1997) Novel glycine substitution mutations in COL7A1 reveal that the Pasini and Cockayne-Touraine variants of dominant dystrophic epidermolysis bullosa are allelic. J Invest Dermatol 109: 684-687
  10. Laimer M et al (2015) Hereditary epidermolysis JDDG 13: 1125-1134
  11. Shirakata Y et al (1993) High-dose tocopherol acetate therapy in epidermolysis bullosa siblings of the Cockayne-Touraine type. J Dermatol 20: 723-725
  12. Touraine A (1955) in: L'hérédité en medicine. Masson (Paris) 448-449
  13. Unger K (1992) Epidermolysis bullosa dystrophica Cockayne-Touraine. Z Hautkr 67: 74


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Last updated on: 01.07.2022