Epidermolysis bullosa dystrophica

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

The dystrophic epidermolysis bullosa (EBD) is a very rare congenital skin disease ( genodermatosis ), a form of epidermolysis bullosa with fragility of the skin and mucous membranes with blistering leading to scarring lead.

Synonyms are: EB dystrophica; DEB; Dermolytic epidermolysis bullosa

Classification

The classification is currently in the following three main groups:

  • EBD Hallopeau-Siemens , (RDEB, RDEB-HS), synonyms: EBD type Hallopeau-Siemens; Latin EB dystrophica mutilans Hallopeau-Siemens
  • EBD non-Hallopeau-Siemens , (RDEB-nHS), synonym: Recessive EBD
  • Dominant EBD (DDEB, DEBD), synonyms: Cockayne-Touraine; Latin EB dystrophica Cockayne-Touraine; EB hereditaria dystrophica dominans; EB dystrophica hereditaria hyperplastica

There are also rare forms:

  • Dominant EBD with pruritus (DEBD-Pr), synonym: Epidermolysis bullosa pruriginosa
  • EB beard type , synonym: beard syndrome; Epidermolysis bullosa with congenital localized absence of skin and deformity of nails
  • Transient bullous dermolysis of the newborn (TBDN-EBD), synonym: Transient bullous dermolysis of the newborn (TBDN)
  • Generalized dominant EBD (DDEB-gene), synonyms: Epidermolysis bullosa dystrophica albopapuloidea; EB dystrophica albopapuloidea Pasini; EB hereditaria dystrophica Pasini; Epidermolysis bullosa, dystrophic, autosomal dominant, Pasini type

distribution

The frequency is given as 1 to 9 in 1,000,000. After epidermolysis bullosa simplex, the disease is the most common form of epidermolysis bullosa.

root cause

All forms are mutations in the COL7A1 - gene on chromosome 3 locus p21.31 based coding for collagen encoding type VII (main component of the anchoring fibrils that anchor the basement membrane in the dermis.)

Clinical manifestations

Clinical criteria are:

  • There are mild to severe courses, beginning at birth or later until adulthood
  • Skin lesions occurring spontaneously or as a result of slight irritation, mostly in exposed areas.
  • Healing with scars, possibly secondary deformity
  • The mucous membranes are also often affected, mostly in the mouth and esophagus
  • increased risk of squamous cell carcinoma (SCC)

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

The following are to be distinguished:

forecast

The prognosis is reduced due to the frequent development of aggressive squamous cell carcinomas (between the ages of 30 and 50).

literature

  • 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 .

Individual evidence

  1. ↑ a b c d e f Epidermolysis bullosa, dystrophic. In: Orphanet (Rare Disease Database).
  2. ↑ Encyclopedia Dermatology EBD
  3. ^ Genetics Home Reference
  4. ^ Epidermolysis bullosa dystrophica Epidermolysis bullosa dystrophica.  In: Online Mendelian Inheritance in Man . (English)
  5. ↑ Epidermolysis bullosa, dystrophic, autosomal recessive (non-Hallopeau-Siemens type). In: Orphanet (Rare Disease Database).
  6. ^ Encyclopedia Dermatology non-Hallopeau-Siemens
  7. ↑ Epidermolysis bullosa dystrophica dominans Epidermolysis bullosa dystrophica.  In: Online Mendelian Inheritance in Man . (English)
  8. ↑ Epidermolysis bullosa pruriginosa.  In: Online Mendelian Inheritance in Man . (English)
  9. ^ Epidermolysis bullosa with congenital localized absence of skin and deformity of nails.  In: Online Mendelian Inheritance in Man . (English)
  10. ↑ Transient bullous dermolysis of the newborn.  In: Online Mendelian Inheritance in Man . (English)
  11. ↑ Epidermolysis bullosa, dystrophic, autosomal dominant, generalized. In: Orphanet (Rare Disease Database).
  12. ↑ Epidermolysis bullosa dystrophica, AR.  In: Online Mendelian Inheritance in Man . (English)

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