Membranous aplasia cutis congenita in trisomy 18

Francisco Cammarata-Scalisi, Andrea Diociaiuti, Blanca De Guerrero, Colin Eric Willoughby, Michele Callea

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    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.

    Original languageEnglish
    Article number120
    JournalItalian Journal of Pediatrics
    Issue number1
    Publication statusPublished (in print/issue) - 27 Aug 2020

    Bibliographical note

    Publisher Copyright:
    © 2020 The Author(s).

    Copyright 2020 Elsevier B.V., All rights reserved.


    • Aplasia cutis congenita
    • Defective closure of the neural tube
    • Membranous aplasia cutis congenita
    • Trisomy 18


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