Bart syndrome

Bart syndrome
Synonyms	Aplasia cutis congenita with epidermolysis bullosa
Pronounce	N/A
Specialty	N/A
Symptoms	Skin blistering, nail abnormalities, absence of skin at birth
Complications	Infection, scarring
Onset	Congenital
Duration	Chronic
Types	N/A
Causes	Genetic mutation
Risks	Family history of epidermolysis bullosa
Diagnosis	Clinical diagnosis, genetic testing
Differential diagnosis	Epidermolysis bullosa, other forms of aplasia cutis congenita
Prevention	Genetic counseling
Treatment	Wound care, antibiotics for infections, protective clothing
Medication	Topical antibiotics, pain management
Prognosis	Variable, depends on severity
Frequency	Rare
Deaths	N/A

Bart syndrome is a rare genetic disorder characterized by the combination of congenital localized absence of skin, and mucosal membrane abnormalities. It is named after the British dermatologist R.J. Bart who first described the condition in 1966.

Symptoms and Signs

The primary symptom of Bart syndrome is the presence of blistering on the skin, particularly on the hands and feet. These blisters can be present at birth or develop shortly thereafter. Other symptoms can include nail dystrophy, mucosal inflammation, and anemia.

Causes

Bart syndrome is caused by mutations in the COL7A1 gene. This gene provides instructions for making a protein that is used to assemble larger molecules called type VII collagen fibers. These fibers play a crucial role in anchoring the top layer of skin, the epidermis, to underlying layers. Mutations in the COL7A1 gene interfere with the assembly of type VII collagen fibers, which weakens the connection between skin layers and leads to the blistering seen in Bart syndrome.

Diagnosis

Diagnosis of Bart syndrome is based on the clinical features, including the presence of skin blisters and other symptoms. Genetic testing can confirm the diagnosis by identifying a mutation in the COL7A1 gene.

Treatment

There is currently no cure for Bart syndrome. Treatment is focused on managing the symptoms and preventing complications. This can include wound care for the skin blisters, and treatment for anemia if it is present.

Prognosis

The prognosis for individuals with Bart syndrome varies. Some individuals may have a relatively mild form of the disease with few complications, while others may experience severe symptoms and complications.

See also

• Epidermolysis bullosa
• Genetic disorder
• Skin disease

References

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