The mature epidermis is a stratified epithelial tissue composed predominantly of keratinocytes(4). A syndrome, as related to genetics, is a group of traits or Conditions that tend to occur together and Characterize a recognizable disease. Some syndromes have a genetic Cause.
Bart syndrome is an unusual condition that combines features from two distinct disorders, namely aplasia cutis congenita (ACC) and epidermolysis bullosa (EB)(5). ACC, a rare congenital anomaly characterized by the absence of skin, was initially documented in 1767 by Cordon(5). Frieden’s classification system categorizes ACC into nine groups based on location and associated abnormalities(5).
Inherited EB is a group of genetically transmitted Skin disorders. Ep can be part of other syndromes(6). It can be marked by skin and mucous membrane fragility, resulting in blisters with minimal trauma(7). The clinical diagnosis of aplasia cutis congenital, specifically Bart syndrome, hinges primarily on identifying classical cutaneous manifestations, with the extent of involvement contingent upon the mode of inheritance(8).
In alignment with Omran et al. and Sharif, our case also exhibited skin lesions and ear malformation(3). In this case, we have seen standard Apgar scores like Sharif et al. (3). It could be better to have a skin biopsy and Brain MRI. To achieve a precise postnatal classification of inherited Epidermolysis Bullosa (EB), it is imperative to employ skin biopsy as a fundamental diagnostic tool(8). This biopsy specimen should undergo comprehensive examination, incorporating a blend of ultrastructural and antigenic assessments through transmission electron microscopy, immunofluorescence antigenic mapping, and investigations utilizing EB-specific monoclonal antibodies(8). In the treatment of this child, due to a skin disorder, the use of CPAP was not possible. Additionally, vascular access was not performed, and an umbilical catheter was placed. Antibiotics were administered due to suspicion of a skin infection with Staphylococcus aureus, and the treatment was carried out with ampicillin and amikacin.
Management of Bart syndrome involves a comprehensive approach, including conservative measures, secondary intention healing, and surgical interventions when warranted. Traditional care primarily focuses on localized wound treatment and infection control using systemic antibiotics(5). The routine administration of systemic antibiotics is not a standard practice, but they may be considered if there are concerns about infection. While conservative methods suffice for most patients, those with substantial or deep wounds may require surgical interventions such as skin grafting or local flap procedures(5).
Conclusion:
Bart syndrome, an infrequent congenital skin disorder characterized by its distinct clinical features, emphasizes prompt and conservative management’s importance in optimizing outcomes. Vigilant patient monitoring is advised for tracking progress. The first examination of newborns Can guide us to critical Situations. Some Signs are straight to the diagnosis, but others are conflicting, and one Should. Search for another disorder already in Syndromes, so physicians Should be aware of Many syndromes and associations so as not to miss the exact diagnosis.
Keywords: Pediatric, Bart, Syndrome, Anomaly