Article
Transient bullous dermolysis of the newborn associated with compound heterozygosity for recessive and dominant COL7A1 mutations.
The Journal of investigative dermatology - 1 Dec 1998
Hammami-Hauasli N, Raghunath M, Küster W, Bruckner-Tuderman L
Abstract excerpt
The neonatal skin blistering disorder transient bullous dermolysis of the newborn (TBDN) heals spontaneously or improves dramatically within the first months and years of life. TBDN is characterized by subepidermal blisters, reduced or abnormal anchoring fibrils at the dermo-epidermal junction, a...
Topics
- Biopsy
- Cells, Cultured
- Collagen
- Epidermolysis Bullosa Dystrophica
- Female
- Genes, Dominant
- Genes, Recessive
- Heterozygote
- Humans
- Immunoblotting
- Infant, Newborn
- Keratinocytes
- Male
- Microscopy, Electron
- Mutation
- Postpartum Period
- Skin