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Generalized dominant dystrophic epidermolysis bullosa
Generalized dominant dystrophic epidermolysis bullosa (DDEB-gen) is a subtype of dystrophic epidermolysis bullosa (DEB, see this term), formerly known as DDEB, Pasini and Cockayne-Touraine types, characterized by generalized blistering, milia formation, atrophic scarring, and dystrophic nails.
ORPHA:231568Classification level: Disorder
- Autosomal dominant dystrophic epidermolysis bullosa, Pasini and Cockayne-Touraine types
- DDEB, Pasini and Cockayne-Touraine types
- DDEB, generalized
- Prevalence: Unknown
- Inheritance: Autosomal dominant
- Age of onset: Infancy, Neonatal
- ICD-10: Q81.2
- OMIM: 131750
- UMLS: C0432322
- MeSH: -
- GARD: 2139
- MedDRA: -
The differential diagnosis includes other forms of EB. In the neonatal period, aplasia cutis congenita, herpes simplex infection, congenital erosive and vesicular dermatosis, epidermolytic ichthyosis, linear IgA bullous dermatosis, bullous pemphigoid, neonatal pemphigus and pemphigoid gestationis, bullous impetigo, and staphylococcal scalded skin syndrome (see these terms) may need to be considered.
The clinical picture is milder than that of the autosomal recessive generalized EB forms. DDEB-gen manifests usually at birth with the development of blisters, primarily affecting the limbs. Aplasia cutis congenita (congenital absence of the skin) can also be observed, more frequently on the lower part of the legs. Blisters heal by developing numerous milia and atrophic scars, particularly evident on the elbows, knees, and backs of hands. Multiple ivory-white colored papules and plaques, known as albopapuloid lesions, may occur, more frequently on the trunk. Nail dystrophy, always present, can lead to loss of nail plates. Blisters develop in the mucosa, mainly in the oral cavity and, less commonly, the esophagus, where they can cause strictures. Dental caries are relatively frequent. Corneal and genitourinary tract involvement, anemia, and growth delay are rare.
DDEB-gen is caused by mutations within the type VII collagen gene (COL7A1) that lead to an alteration of function or a reduction in the amount of collagen VII. This impairs collagen VII assembly into anchoring fibrils which anchor the basement membrane to the underlying dermis. This in turn causes reduced skin resistance to minor trauma.
Diagnosis is suspected at clinical examination and is confirmed by immunofluorescence antigen mapping and/or transmission electron microscopy on skin samples showing a cleavage plane located below the lamina densa of the cutaneous basement membrane zone. Genetic testing confirms the diagnosis.
The differential diagnosis includes other forms of EB. In the neonatal period aplasia cutis congenita, herpes simplex infection, bullous impetigo, incontinentia pigmenti, linear IgA bullous dermatosis, bullous pemphigoid (see these terms) may need to be considered.
DNA-based prenatal diagnosis is possible for at risk pregnancies.
DDEB-gen follows an autosomal dominant pattern of inheritance.
Management and treatment
Management is preventive: protective padding of the skin and appropriate lifestyle measures reduce blistering, and careful wound care prevents secondary infection and reduces scarring. Oral hygiene is important for the management of caries. When present, esophageal strictures can be treated by balloon dilatation with fluoroscopic guidance. In a minority of patients, a follow-up by a dietitian can be required to evaluate nutritional requirements.
Life expectancy is normal.
- Summary information
- Polski (2013, pdf)
- Emergency guidelines
- Français (2012, pdf)
- Clinical genetics review
- English (2018)