Membranous aplasia cutis congenita in trisomy 18
- PDF / 560,248 Bytes
- 3 Pages / 595.276 x 790.866 pts Page_size
- 32 Downloads / 188 Views
(2020) 46:120
CASE REPORT
Open Access
Membranous aplasia cutis congenita in trisomy 18 Francisco Cammarata-Scalisi1* , Andrea Diociaiuti2, Blanca de Guerrero3, Colin Eric Willoughby4 and Michele Callea5*
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 nonfortuitous 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. Keywords: Aplasia cutis congenita, Membranous aplasia cutis congenita, Trisomy 18, Defective closure of the neural tube
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 [1–3]. The exact etiology of ACC is not completely understood. Several factors have been proposed as possible causes, e.g., vascular disruption, thrombotic events, trauma, amniotic defects, chromosomal abnormalities or gene mutations, ectodermal dysplasia, defective closure of the neural tube, and
* Correspondence: [email protected]; [email protected] 1 Pediatrics Service, Regional Hospital of Antofagasta, Antofagasta, Chile 5 Unit of Dentistry, Bambino Gesù Children Hospital and Research Institute, Rome, Italy Full list of author information is available at the end of the article
teratogenic events such as intrauterine infections, or drugs and medications during pregnancy [4–6]. The most common lesion location of ACC is the scalp in 70% [7, 8]; however, any skin site can be affected [7]. The estimated incidence of ACC is approximately 0.5–3 in 10,000 newborns [2, 5], regardless of gender or ethnicity [5]. The clinical appearance of ACC is heterogeneous and it can be associated with various systemic congenital anomalies. However, in most cases, it is just a sporadic defect and the cause is unknown [2, 3]. Membranous ACC (MACC) als
Data Loading...
