{Reference Type}: Case Reports
{Title}: Membranous aplasia cutis congenita in trisomy 18.
{Author}: Cammarata-Scalisi F;Diociaiuti A;de Guerrero B;Willoughby CE;Callea M;
{Journal}: Ital J Pediatr
{Volume}: 46
{Issue}: 1
{Year}: Aug 2020 27
{Factor}: 3.288
{DOI}: 10.1186/s13052-020-00885-6
{Abstract}: <B>BACKGROUND: </B>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.<BR><B>METHODS: </B>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.<BR><B>CONCLUSIONS: </B>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.