Aplasia cutis congenita with dystrophic epidermolysis bullosa: Bart syndrome
A 9-h-old newborn boy was admitted in our care-unit with localized absence of skin. On dermatological examination, we detected congenital and localized absence of skin extending from the right knee to dorsum of ipsilateral foot in strip-shapes. The entire left foot was also involved. Additionally, we observed several flaccid and tense bullous lesions on the face, oral mucosa, upper limbs and back containing translucent fluid. [Figure 1]. Nail involvement was also noted, and they appeared rudimentary. Histopathological examination of a bulla revealed sub-epidermal cleft, consistent with the diagnosis of epidermolysis bullosa. Direct immunofluorescence failed to demonstrate IgA, IgG, IgM or C3 depositions at the dermal-epidermal junction, thus ruling out epidermolysis bullosa acquisita. We performed whole-exome sequencing to confirm our diagnosis and detected the mutation c.6801delA chr3:48610325 p.K2267fs with exon 86 and c.3625_3635del chr3:48623595 p.S1209fs with exon 27 of COL7A1. Based on clinical presentation, corroborative histopathology and genetic analysis, we made a provisional diagnosis of Bart syndrome. We advised symptomatic measures including skin-care and tips for preventing infection, and regular follow-up.