Dominant EBD

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Classification according to ICD-10
Q81.2 Epidermolysis bullosa dystrophica
ICD-10 online (WHO version 2019)

The dominant EBD (DDEB) or generalized dominant EBD (DDEB-gene) is a very rare form of epidermolysis bullosa dystrophica (EBD) with the main features of generalized blistering, milia , atrophic scars and dystrophy of the nails .

Synonyms are: Epidermolysis bullosa dystrophica albopapuloidea; EB dystrophica albopapuloidea Pasini; EB hereditaria dystrophica Pasini; Epidermolysis bullosa, dystrophic, autosomal dominant, Pasini type; Latin Dystrophia cutis spinalis congenita

The previous division into

  • Epidermolysis bullosa, dystrophic, autosomal dominant, Pasini type
  • Epidermolysis bullosa, dystrophic, autosomal dominant, Cockayne-Touraine type

Is no longer in use.

The names refer to the author of the first description from 1928 by the Italian dermatologist Agostino Pasini . and reports from 1933 by the English doctor Edward Alfred Cockayne and from 1942 by the French dermatologist Albert Touraine .

distribution

It is inherited in an autosomal dominant manner ; the frequency of this most common form of autosomal dominant EBD is not known.

root cause

Of the disease are mutations in the COL7A1 - gene on chromosome 3 locus p21.31 based encoding which VII for the type of collagen.

Clinical manifestations

Clinical criteria are:

  • Manifestation at birth with blistering of the extremities
  • Healing with scarring
  • Always nail dystrophy , possibly with nail loss
  • ivory-colored papules and plaques (albopapuloid lesions) mostly on the trunk
  • Possibly aplasia cutis congenita on the lower legs
  • Less often blisters in the mucous membrane

diagnosis

The diagnosis results from the clinical examination and is confirmed by immunofluorescence antigen mapping and / or transmission electron microscopy . Prenatal evidence can be provided by human genetic testing .

Differential diagnosis

Other forms of the epidermolysis bullosa group are also to be distinguished

therapy

Treatment is symptomatic.

Individual evidence

  1. ↑ a b c d e Epidermolysis bullosa, dystrophic, autosomal dominant, generalized. In: Orphanet (Rare Disease Database).
  2. ↑ Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .
  3. ↑ A. Pasini: distrofia cutanea Bullosa atrofizzante ed albo-papuloide. In: Giornale italiano di dermatologia e sifilologia , Vol. 69, 1928, pp. 558-564.
  4. ^ EA Cockayne: Inherited Abnormalities of the Skin and its Appendages. London: Oxford University Press, 1933.
  5. ^ MA Touraine: Classification des epidermolyses bulleuses. In: Annales de Dermatologie et de Syphiligraphie. (Paris) Vol. 8, 1942, pp. 138-144.
  6. ↑ Epidermolysis bullosa dystrophica, AD.  In: Online Mendelian Inheritance in Man . (English)
  7. ↑ Encyclopedia Dermatology

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