DeCure for Transient bullous dermolysis of the newborn

Transient bullous dermolysis of the newborn is a rare subtype of dystrophic epidermolysis bullosa that presents with neonatal skin blistering and usually improves markedly during early life or remits completely. Fewer than 30 cases had been reported in the literature as of 2010. Skin biopsies show abnormal intraepidermal accumulation of type VII collagen, resulting in poorly constructed anchoring fibrils and a sublamina densa plane of blister formation. The reason for 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. One 2005 report described TBDN occurring in three generations of the same family, with blistering only during the first few months after birth; all affected individuals had a heterozygous glycine substitution mutation in exon 45 of COL7A1, designated G1522E. A 2015 report described two preterm siblings with a novel recessive mutation, p.Pro2259Leu, in the triple helix domain of type VII collagen. A 2010 case reported a heterozygous missense mutation p.G1673R in exon 54, previously reported as one mutant allele in a case of recessive dystrophic epidermolysis bullosa (generalized other). A 2020 case reported a novel pathogenic mutation in COL7A1 resulting in a mild autosomal dominant phenotype.

One 1992 case report described transient bullous dermolysis of the newborn associated with Wilms' tumour; the authors stated that the skin condition did not represent an obstacle to administering appropriate chemotherapy when simple precautions were taken. A 2019 clinical observation of a newborn with congenital bullous epidermolysis and intrauterine growth retardation reported a significant improvement in the baby’s clinical status, but noted that there is no aetiopathogenetic treatment and all existing methods are palliative. Not all cases of dystrophic epidermolysis bullosa associated with intraepidermal type VII collagen are transient, and genetic counselling should be guarded until the pathophysiology is better understood.

What is still missing is a clear understanding of why some cases resolve and others do not, and whether the specific COL7A1 mutation or other genetic or environmental factors determine the course. No targeted therapy exists; all current treatment is palliative. No clinical trials have been conducted for this rare, self-limiting condition, and patient stratification by genotype and prematurity status has not been systematically studied. Funding for natural history studies and mutation-specific registries would be needed to move beyond case reports.