Conflicts of interest: None declared.
Transient bullous dermolysis of the newborn in three generations
Article first published online: 11 SEP 2005
British Journal of Dermatology
Volume 153, Issue 5, pages 1058–1063, November 2005
How to Cite
Fassihi, H., Diba, V.C., Wessagowit, V., Dopping-Hepenstal, P.J.C., Jones, C.A., Burrows, N.P. and McGrath, J.A. (2005), Transient bullous dermolysis of the newborn in three generations. British Journal of Dermatology, 153: 1058–1063. doi: 10.1111/j.1365-2133.2005.06873.x
- Issue published online: 11 SEP 2005
- Article first published online: 11 SEP 2005
- Accepted for publication 22 April 2005
- dystrophic epidermolysis bullosa;
- transient bullous dermolysis of the newborn;
- type VII collagen
Transient bullous dermolysis of the newborn (TBDN) is a rare form of dystrophic epidermolysis bullosa (DEB) that presents with neonatal skin blistering but which usually improves markedly during early life or even remits completely. Skin biopsies reveal abnormal intraepidermal accumulation of type VII collagen which results in poorly constructed anchoring fibrils and a sublamina densa plane of blister formation. The reason for the spontaneous clinical improvement is not known, but there is a gradual recovery in type VII collagen secretion from basal keratinocytes to the dermal–epidermal junction, with subsequent improvement or correction of anchoring fibril morphology. In this report, we describe TBDN occurring in three generations of the same family. Blistering occurred only during the first few months after birth, and all affected individuals were found to have a heterozygous glycine substitution mutation in exon 45 of the type VII collagen gene, COL7A1, designated G1522E. This mutation represents the third report of a pathogenic COL7A1 mutation in TBDN. Despite limited understanding of the disease mechanism in TBDN, this distinct form of DEB is important to recognize as it typically has a benign and self-limiting course. However, not all cases of DEB associated with intraepidermal type VII collagen are ‘transient’. Genetic counselling in such patients therefore should be guarded until the pathophysiology of TBDN is better understood.