Transient bullous dermolysis of the newborn

Alternate names

TBDN; Epidermolysis bullosa dystrophica, dominant neonatal form

Definition

Transient bullous dermolysis of the newborn is a rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by generalized blistering at birth that usually regresses within the first 6 to 24 months of life.

Summary

Transient bullous dermolysis of the newborn (TBDN) is a skin condition that presents in newborns. It is characterized by blister formation secondary to even mild trauma.

A subtype of dystrophic epidermolysis bullosa, it is rare, usually inherited condition that presents with characteristic blisters at birth which resolve between six months and one year of age.

Blisters may cover the entire body including the mouth, and as they heal, they may leave some mild scarring. In addition, nail changes may occur which can persist to adulthood.

It is associated with COL7A1.

The condition was described by Ken Hashimoto in 1985.

Epidemiology

Prevalence is unknown. Less than 30 cases have been reported to date.

Cause

• 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.

Inheritance

The condition is usually inherited in an autosomal dominant manner, but can also rarely be transmitted as an autosomal recessive trait.

Signs and symptoms

• 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.

Clinical presentation

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed.

30%-79% of people have these symptoms

• Abnormality of the subungual region
• Anonychia(Absent nails)
• Atrophic scars(Sunken or indented skin due to damage)
• Fragile skin(Skin fragility)
• Milia(Milk spot)
• Nail dystrophy(Poor nail formation)
• Oral mucosal blisters(Blisters of mouth)

5%-29% of people have these symptoms

• Aplasia cutis congenita(Absence of part of skin at birth)
• Carious teeth(Dental cavities)
• Skin erosion

1%-4% of people have these symptoms

• Abnormality of skin pigmentation(Abnormal pigmentation)

See also

• Skin lesion

External links

• Rare diseases-NIH

Classification	OMIM: 131705