A Case of Aplasia Cutis Congenita Type VI: Bart Syndrome

Abstract

Aplasia cutis congenita type VI, also known as Bart syndrome, is a rare genetic mechanobullous disorder characterized by congenital localized absence of skin, mucocutaneous blistering lesions, and nail abnormalities. We present the case of a 4-h-old male newborn who presented with complete absence of skin over the anteromedial aspect of both lower legs associated with nail dystrophy since birth. After a few days, he developed blisters that were consistent with epidermolysis bullosa in histopathological examination. There was no systemic involvement such as pyloric atresia, ureteral stenosis, renal abnormalities, or arthrogryposis. All laboratory work and imaging studies were normal. A diagnosis of Bart syndrome was made based on previous presentation. We managed the patient with conservative methods. Complete epithelialization occurred after several weeks.

Epidermolysis bullosa with congenital absence of skin: Review of the literature

“…We reviewed the full text and references of 47 articles, and included 8 additional articles, for a total of 55 articles included in this review (Figure 1). 3,4,6‐58 Most were single or small case series of up to 6 patients, with an additional article by Chiaverini et al 39 reporting on 21 patients in whom gene testing was performed.…”

Bart syndrome associated with skeletal deformities: An uncommon case report

“…The management of Bart syndrome is mostly conservative including wound care modalities; however, future reconstructive interventions may be needed (Alfayez et al, ; Browning, ).…”

“…One possible hypothesis raised to explain the skeletal abnormalities in Bart syndrome is the limb contracture and skeletal deformity in consequence of scar formation at the site of skin defects (Duran‐McKinster, Rivera‐Franco, Tamayo, De La Luz Orozco‐Covarrubias, & Ruiz‐Maldonado, ; Smith & Cram, ). Although Bart syndrome is usually diagnosed based on the clinical manifestations, skin biopsy and genetic study are performed to determine the type of epidermolysis bullosa (Alfayez, Alsharif, & Santli, ). In our case, the diagnosis was based on the characteristic clinical, histopathological, and IHC staining manifestations.…”

Untitled

“…In this condition, the infant has congenital localized absence of skin, mucocutaneous blistering and abnormalities of the nail. 22,23 In utero physical trauma is the postulated mechanism for skin abnormality on limb. 22 It is important to differentiate such cases from those with birth injuries.…”