Bart syndrome

Overview

Bart syndrome is a rare genetic disorder characterized by the triad of epidermolysis bullosa (EB),congenital absence of skin (aplasia cutis congenita), and nail abnormalities. It was first described by Dr. Bruce J. Bart in 1966. The syndrome is considered a variant of dominantly inherited dystrophic epidermolysis bullosa, where blistering of the skin occurs due to fragility at the dermal-epidermal junction. Bart syndrome usually presents at birth and can vary in severity depending on the extent of skin and mucosal involvement.

Causes

Bart syndrome is caused by mutations in genes responsible for producing proteins that maintain the structural integrity of the skin, particularly those involved in anchoring fibrils at the dermal-epidermal junction.

• Mutations in the COL7A1 gene – which encodes type VII collagen, essential for skin cohesion

• Autosomal dominant inheritance – most commonly observed, though sporadic cases may occur

• Genetic overlap with dystrophic epidermolysis bullosa (DEB)

Symptoms

Bart syndrome presents at birth with a distinctive set of symptoms involving the skin and nails:

• Localized absence of skin (aplasia cutis congenita), most commonly on the lower legs

• Blistering of the skin and mucous membranes following minor trauma or friction

• Nail abnormalities – such as hypoplastic or absent nails

• Oral or gastrointestinal blistering in severe cases

• Scarring and skin fragility with repeated blistering

The severity can vary widely. Some patients may only have mild skin findings, while others may suffer from extensive blistering and secondary infections.

Diagnosis

Diagnosis of Bart syndrome is based on clinical findings and confirmed with genetic or histological studies:

• Clinical examination – noting the presence of congenital skin absence, blistering, and nail defects

• Skin biopsy with immunofluorescence mapping – to determine the level of skin separation

• Genetic testing – to identify mutations in the COL7A1 gene or other EB-related genes

• Family history – to evaluate inheritance patterns

Treatment

There is no cure for Bart syndrome. Management is primarily supportive, focusing on wound care, infection prevention, and symptom relief:

• Gentle wound care and dressing for areas of skin loss and blistering

• Topical and systemic antibiotics for secondary skin infections

• Moisturizers and barrier creams to protect fragile skin

• Pain control with appropriate analgesics

• Genetic counseling for affected families

Multidisciplinary care involving dermatologists, pediatricians, and geneticists is recommended.

Prognosis

The prognosis for Bart syndrome depends on the severity of the skin and systemic involvement:

• Mild cases may have minimal complications and a good quality of life

• Severe forms may be associated with recurrent infections, scarring, and feeding difficulties (if mucosal surfaces are involved)

• Life expectancy is typically normal in milder cases, but may be affected in extensive or syndromic forms

• Early intervention and wound management can significantly improve outcomes