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Medicentro Electrónica
On-line version ISSN 1029-3043
Abstract
NIETO JIMENEZ, Adrian Isacc and MONTEAGUDO DE LA GUARDIA, Luis Alberto. Bart’s syndrome: aplasia cutis congenita and epidermolysis bullosa. Medicentro Electrónica [online]. 2023, vol.27, n.1, e3881. Epub Jan 01, 2023. ISSN 1029-3043.
Aplasia cutis congenita, also known as Bart’s syndrome, has been associated with all the major epidermolysis bullosa subtypes. This disease affects 1 in 10, 000 live births; only 500 cases have been described in medical literature. It is characterized by affecting a lower limb with an S-shaped pattern and presenting epidermolysis bullosa lesions in any other part of the body. We present a female neonate with the aforementioned clinical features, who was hospitalized in the Neonatology service at "José Luis Miranda" Pediatric University Hospital. This diagnosis is mainly clinical and is based on evidence of areas of skin loss predominantly on the lower limbs, bullous lesions on the skin and mucous membranes and nail deformities. Its prognosis can be fatal. This case is of great interest due to its low incidence; its early diagnosis helped to avoid complications.
Keywords : aplasia cutis congenita; epidermolysis bullosa.