Transient Bullous Dermolysis Of The Newborn
Transient bullous dermolysis of the newborn is a rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by generalized blistering at birth that usually regresses within the first 6 to 24 months of life.
Epidemiology
Prevalence is unknown. Less than 30 cases have been reported to date.
Clinical description
The disease usually manifests at birth. Skin blisters generally affect the whole body. Blisters can also affect the oral cavity. Healing of blisters is associated with mild, mostly atrophic, scarring and milia formation. Disease activity usually ceases within the first 6 to 24 months of life. However, nail dystrophy and some degree of skin fragility can persist in adulthood. Ultrastructurally, the presence in basal keratinocytes of peculiar cytoplasmic inclusions, known as stellate bodies, filled with unsecreted procollagen VII, is typical of the disease.
Etiology
Transient bullous dermolysis of the newborn is caused by mutations within the type VII collagen gene (COL7A1). Mutations in this gene lead to reduced amounts or an alteration in function of collagen VII. This impairs its assembly into anchoring fibrils that anchor the basement membrane to the underlying dermis.
Genetic counseling
The condition is usually inherited in an autosomal dominant manner, but can also rarely be transmitted as an autosomal recessive trait.