Cutis Aplasia of Bilateral Lower Extremities with Epidermolysis Bullosa, Bart`s Syndrome; Treatment Using Negative Pressure Wound Therapy to Improve Neonatal Outcome, Decrease Closure Time, Decrease Pain, and Decrease Morbidity.

Bart’s Syndrome is a constellation of processes occurring in conjunction with Epidermolysis Bullosa (EB). We describe the cases of two newborn infants presenting with congenital loss of skin and cutis aplasia of the bilateral lower limbs associated with Bart’s Syndrome which were benefited by the use of Negative Pressure Wound Therapy (NPWT) to quickly close the wounds of the legs. It is very important in EB to minimally handle tissue, as any friction will cause blistering as a consequence of de-epithelialization. Holding an infant for wound dressings that are painful can cause much more damage, therefore it was important to develop a technique that allowed for decreased pain, decreased manipulation, and increased speed of closure.

Bart’s Syndrome, a rare mechanobullous disorder, was originally termed in 1966 by Bart and his colleagues as a subtype of EB. It was described as an inherited disorder with any combination of the following three features: congenital localized absence of skin, absence or deformities of nails, and blistering of mucous membranes. As Bart’s Syndrome remains an uncommon finding, there is no standardized treatment. Multiple approaches to wound care have been utilized with varying degrees of success on a case by case basis. A limited number of cases have revealed successful management with an assortment of dressings. Most consist of applying antibiotic and dressing the cutis aplasia wounds with a non-adhesive bandage, hydrogel, petroleum gauze, or vaseline gauze. Recently successful wound closure of EB has also been obtained with Apligraf, Alloderm grafting, and cultured keratinocytes. All of these treatments have an average noted closure time of three months, requiring the patient to have a significant number of dressing changes. This gives rise to morbidity and mortality from delay in closure of open wounds and/or hospitalization secondary to fluid loss and wound exudate, pain with need for opioid treatment (in the neonate), and generates new wounds in patients with EB. Here we describe the use of negative pressure wound therapy to accelerate wound closure of the lower extremities in two patients with Bart’s Syndrome.

: Two patients with Bart’s Syndrome with Cutis Aplasia of the anterior lower extremity were treated with NPWT.
 
Patient One:
At birth, the patient was noted to have skin changes consistent with EB and loss of skin of the bilateral lower extremities from the knees to the toes. Significant exposure of underlying vessels and musculature with lack of dermis and epidermis were noted. Within twelve hours of birth, a negative pressure wound dressing was placed at 75mmHg with a contact layer of Mepitel. Dressings were changed three times a week: Mondays, Wednesdays, and Fridays. At two weeks, significant epithelization was noted, and the contact layer was slowly changed to Adaptic dressing. Full epithelization was noted at three weeks (At three weeks full epithelization was noted and patient progressed with dressings were epidermolysis bullosa  of Mepitel, Mepitel transfer and kling)
 
Patient Two:
Patient was born at an outside hospital with EB and cutis aplasia of the bilateral lower extremities in a pattern very similar to patient one. The patient was transferred to a tertiary care center for treatment of lesions. At one day of life, a negative pressure dressing was placed with Mepitel as the contact layer and black foam at 125 mmHg. Significant epithelization was noted at 2.5 weeks, so the contact layer was subsequently changed to Adaptic and negative pressure was continued for an additional week until full closure was noted.
 
In both patients the legs were wrapped proximally with Duoderm which was left in place until it fell off on average 1 week. The foam was cut out and new dressings were retaped to the prior tape. Tape was only removed when it fell off or after a programmed bath.
 

Discussion
Bart’s Syndrome represents a pattern of clinical manifestations appearing simultaneously with congenital localized absence of skin affecting the lower limbs and may be accompanied by nail deformities and blistering of skin and/or mucous membranes. It is recognized as an autosomal dominant disorder linked to chromosome 3. Diagnosis is often made solely on clinical presentation but may require skin biopsy for ultrastructual microscopy to determine the type of EB.
Noting Cutis Aplasia of the bilateral lower extremities in the newborn is extremely distressing and in combination with EB is overwhelming. In our smallest patients, care must be delivered in specialized ways. With de-epithelialization occurring at many touch times, daily dressing changes when battling with a day old infant in pain is suboptimal. Opioid issues with newborns in the NICU are becoming well publicized. Our goal of improving outcomes for patients with Bart’s syndrome had to tick many boxes: limiting manipulation of normal tissue, limiting use of opioids, being cost effective, and decreasing morbidity associated with large open wounds in the newborn were just some of the points that concerned us. This method of NPWT allows all of those issues to be dealt with in an optimal fashion by allowing the wounds to re-epithelialize quickly, decreasing wound exudate, and reducing the need for aggressive local wound care. 
 
Conclusion
With the use of NPWT, closure time was drastically decreased from three months to three weeks, with full epithelization observed. Both patients with Bart’s Syndrome experienced accelerated wound closure with a lowered risk of complications, and their treatment was accompanied by less aggravation of the underlying EB with a concomitant decrease in opioid consumption. This method of wound treatment is highly effective and improves upon the common method of treatment of lower extremity cutis aplasia in newborns and infants.

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