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- Title
Membranous aplasia cutis congenita in trisomy 18.
- Authors
Cammarata-Scalisi, Francisco; Diociaiuti, Andrea; de Guerrero, Blanca; Willoughby, Colin Eric; Callea, Michele
- Abstract
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.
- Subjects
CHROMOSOME abnormalities; ECTODERMAL dysplasia; NEURAL tube defects; SCALP; TRISOMY 18 syndrome
- Publication
Italian Journal of Pediatrics, 2020, Vol 46, Issue 1, pN.PAG
- ISSN
1720-8424
- Publication type
Article
- DOI
10.1186/s13052-020-00885-6