Membranous aplasia cutis congenita in trisomy 18

• Published in: Italian journal of pediatrics 2020-08, Vol.46 (1), p.1-120, Article 120
• Main Authors: Cammarata-Scalisi, Francisco, Diociaiuti, Andrea, de Guerrero, Blanca, Willoughby, Colin Eric, Callea, Michele
• Format: Article
• Language: English
• Subjects: Aplasia; Aplasia cutis congenita; Case Report; Defective closure of the neural tube; Defects; Hair; Karyotypes; Membranous aplasia cutis congenita; Mutation; Neural tube; Pathogenesis; Peripheral blood; Scalp; Trisomy; Trisomy 18; Ultrasonic imaging
• ISSN: 1824-7288; 1720-8424; 1824-7288
• DOI: 10.1186/s13052-020-00885-6

Background Aplasia cutis congenita (ACC) is a rare congenital condition characterized by the absence of skin layers and sometimes other underlying structures, in a localized or widespread area. The exact etiopathogenesis is not yet completely understood. Membranous ACC (MACC) also described as bullous or cystic ACC is a clinical subtype of ACC, covered with a membranous or glistening surface, and appears as a flat scar. There are less than 20 cases reported in the literature. It has been proposed an abortive form of a defective closure of the neural tube. On the other hand, the trisomy 18 is a chromosomal abnormality characterized by a broad clinical spectrum and the presence of defective closure of the neural tube. Case presentation We report on an 18-months-old Venezuelan boy, who presented on the parietal scalp a distinctive localized MACC appearing as an oval lesion covered with a membranous surface, characterized by the absence of hairs and the presence of a sharp hair collar. The karyotype in peripheral blood was 47,XY,+ 18. Conclusions This is the second case report of ACC in trisomy 18 and reinforces the interpretation of a non-fortuitous association as well as of a defective closure of the neural tube as pathogenetic mechanism. The case highlights the importance of examining for dermatological alterations such as ACC in cases of chromosomopathy.