Epidermolysis bullosa dystrophica dominans, generalizedQ81.2

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.

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

Clinical symptoms already detectable at birth

Integumentary:

• 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%)

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

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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