Transient bullous dermolysis of the newborn
Alternate names[edit | edit source]
TBDN; Epidermolysis bullosa dystrophica, dominant neonatal form
Definition[edit | edit source]
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[edit | edit source]
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.[1]:558
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.[2]
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.[2]
It is associated with COL7A1.[3]
The condition was described by Ken Hashimoto in 1985.[4][5]
Epidemiology[edit | edit source]
Prevalence is unknown. Less than 30 cases have been reported to date.
Cause[edit | edit source]
- 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[edit | edit source]
The condition is usually inherited in an autosomal dominant manner, but can also rarely be transmitted as an autosomal recessive trait.
Signs and symptoms[edit | edit source]
- 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[edit | edit source]
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[edit | edit source]
- 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[edit | edit source]
References[edit | edit source]
- ↑ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
- ↑ 2.0 2.1 "Transient bullous dermolysis of the newborn | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 11 August 2018.
- ↑
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External links[edit | edit source]
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