A Case Report of Aplasia Cutis Congenita Type VI: Bart Syndrome

• Main Authors: Florica SANDRU, Catalina IORDAN, Dana ZACIU, Aida PETCA, Mihai DUMITRASCU, Adelina POPA
• Format: Article
• Language: English
• Published: Media Med Publicis 2019-12-01
• Series: Modern Medicine
• Subjects: aplasia cutis; epidermolysis bullosa; bart syndrome; genetic skin disorder; newborn
• Online Access: https://medicinamoderna.ro/wp-content/uploads/2019/12/RMM_art-7-A-Case-Report-of-Aplasia-Cutis-Congenita-Type-VI-Bart-Syndrome.pdf

Bart syndrome is a genetic disorder that is characterized by the association of congenital localized absence of the skin (aplasia cutis), blister formation (epidermolysis bullosa), dystrophic nails and lesions of the mouth mucosa. The association of this diseases is considered a variant of aplasia cutis congenita (ACC) with epidermolysis bullosa (EB). The inheritance pattern of Bart’s syndrome seems to be autosomal dominant. Aplasia cutis congenita (ACC) is a group of heterogeneous diseases representing failure of the skin to fully develop. Frieden created a classification system for ACC consisting of nine groups based on the number and location of the lesions and the presence or absence of associated malformations. In this report, we present a rare case of Bart syndrome in a newborn female baby with aplasia cutis in the lower extremities associated with lesions of epidermolysis bullosa on the face and on the hand fingers first, then located also on the thighs, and dystrophic nails.