Epidermolysis bullosa dystrophica inversa Q81.2

Author: Prof. Dr. med. Peter Altmeyer

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Last updated on: 29.10.2020

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Synonym(s)

Epidermolysis bullosa dystrophica inverse type; Inverse epidermolysis bullosa dystrophica; REBD-I

History
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Gedde-Dahl, 1971

Definition
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Autosomal recessive inherited scarring epidermolysis.

Etiopathogenesis
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Homozygous or "compound" heterozygous COL7A1 mutation mapped on gene locus 3p21.3 The mutation leads to reduction or lack of synthesis of collagen type VII.

Clinical features
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  • Integument: Blistering mainly in the area of the axillae and groin, flanks, neck, upper arms and thighs and in the anogenital region. Formation of extensive, poorly healing erosions. Frequent nail dystrophies, dental enamel hypoplasia and mucous membrane infestation, if necessary with scarred stenosis.
  • Extracutaneous manifestations: dysphagia with esophageal involvement.

Histology
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  • Bubble formation below the lamina densa.
  • Electron microscopy: Abnormal structure of the anchoring fibrils in the electron microscope.

Differential diagnosis
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Other forms of the Epidermolysis bullosa group.

Therapy
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Avoidance of mechanical irritation and pressure points on the skin as well as regular restoration of the teeth or treatment of the oral mucosa by dentists.

External therapy
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Mild antiseptic soaps, sitz baths with antiseptic and astringent additives such as quinosol sulphate (e.g. Chinosol 1:1000) for wounds in the perianal and inguinal area. Wounds and granulation-promoting external preparations (e.g. Iruxol N ointment), see below Wound treatment. In case of pronounced inflammation, creams or pastes containing glucocorticoids for a short time.

Internal therapy
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Therapy trial with collagenase inhibitors such as phenytoin (e.g. Zentropil, Epanutin) Initial dosage: 2-3 mg/kg bw/day in 2 ED over 10-14 days, followed by a gradual dose increase up to a blood level of at least 8 μg/ml. Effectiveness can only be assessed after 6 months. Trial with vitamin E therapy (e.g. Evit Kps.) 25 mg/kg bw/day in infants and 600-1200 mg/kg bw/day in adults.

Progression/forecast
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Intermittent course with possible longer remissions.

Diet/life habits
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Diet rich in vitamins and minerals.

Literature
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  1. Abeck D et al (1991) Epidermolysis bullosa dystrophica inversa Gedde-Dahl. Act Dermatol 17: 35-38
  2. Gardella R et al (2002) Genotype-phenotype correlation in italian patients with dystrophic epidermolysis bullosa. J Invest Dermatol 119: 1456-1462
  3. Gedde-Dahl T Jr (1971) Epidermolysis Bullosa: A Clinical, Genetic and Epidemiological Study. Johns Hopkins Press (Baltimore): 117-119
  4. Kahofer P et al (2003) Dystrophic epidermolysis bullosa inversa with COL7A1 mutations and absence of GDA-J/F3 protein. Pediatric dermatol 20: 243-248

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Last updated on: 29.10.2020