Browse > Article
http://dx.doi.org/10.5385/nm.2021.28.1.48

Case of Mental Retardation Associated with Aplasia Cutis Congenita and Skull Defect  

Cho, Hyun Chul (Department of Pediatrics, Inje University Ilsan Paik Hospital, Inje University College of Medicine)
Hwang, Jong Hee (Department of Pediatrics, Inje University Ilsan Paik Hospital, Inje University College of Medicine)
Publication Information
Neonatal Medicine / v.28, no.1, 2021 , pp. 48-52 More about this Journal
Abstract
Aplasia cutis congenita (ACC) is a rare congenital disorder characterized by skin defects involving the epidermis, dermis, subcutaneous tissue, bone, and sometimes dura. It commonly affects the scalp in approximately 70% of cases, but the neck, trunk, and the extremities can also be affected. ACC can occur either as an isolated condition or associated with other anomalies and congenital syndromes, and it can be acquired either genetically or sporadically. Morbidity and mortality are associated with the defects of skull bone, dura, and other multiple anomalies. We herein report the case of a female infant, with a large scalp defect accompanied by a skull defect noted at birth, who developed mental retardation in the preschool years.
Keywords
Ectodermal dysplasia; Scalp dermatoses; Parietal bone; Infants;
Citations & Related Records
연도 인용수 순위
  • Reference
1 Silberstein E, Pagkalos VA, Landau D, Berezovsky AB, Krieger Y, Shoham Y, et al. Aplasia cutis congenita: clinical management and a new classification system. Plast Reconstr Surg 2014;134:766e-74e.   DOI
2 Canter HI, Vargel I, Nasir S, Kayikcioglu A. Use of a water-vapour permeable polyurethane film (omiderm) in the non-surgical treatment of aplasia cutis congenita. Scand J Plast Reconstr Surg Hand Surg 2004;38:232-5.   DOI
3 Browning JC. Aplasia cutis congenita: approach to evaluation and management. Dermatol Ther 2013;26:439-44.   DOI
4 Frieden IJ. Aplasia cutis congenita: a clinical review and proposal for classification. J Am Acad Dermatol 1986;14:646-60.   DOI
5 Demmel U. Clinical aspects of congenital skin defects. I. Congenital skin defects on the head of the newborn. Eur J Pediatr 1975;121:21-50.   DOI
6 Humphrey SR, Hu X, Adamson K, Schaus A, Jensen JN, Drolet B. A practical approach to the evaluation and treatment of an infant with aplasia cutis congenita. J Perinatol 2018;38:110-7.   DOI
7 Stephan MJ, Smith DW, Ponzi JW, Alden ER. Origin of scalp vertex aplasia cutis. J Pediatr 1982;101:850-3.   DOI
8 Bharti G, Groves L, David LR, Sanger C, Argenta LC. Aplasia cutis congenita: clinical management of a rare congenital anomaly. J Craniofac Surg 2011;22:159-65.   DOI
9 Schneider BM, Berg RA, Kaplan AM. Aplasia cutis congenita complicated by sagittal sinus hemorrhage. Pediatrics 1980;66:948-50.   DOI
10 Ruiz-Maldonado R, Tamayo L. Aplasia cutis congenita, spastic paralysis, and mental retardation. Am J Dis Child 1974;128:699-701.
11 Lassman LP, Sims DG. Congenital midline scalp and skull defect. Arch Dis Child 1975;50:958-60.   DOI
12 Smartt JM Jr, Kim EM, Tobias AM, Yan AC, Kirschner RE. Aplasia cutis congenita with calvarial defects: a simplified management strategy using acellular dermal matrix. Plast Reconstr Surg 2008;121:1224-9.   DOI
13 Chitnis MR, Carachi R, Galea P. Familial aplasia cutis congenita. Eur J Pediatr Surg 1996;6:100-1.   DOI
14 Santos de Oliveira R, Barros Juca CE, Lopes Lins-Neto A, Aparecida do Carmo Rego M, Farina J, Machado HR. Aplasia cutis congenita of the scalp: is there a better treatment strategy? Childs Nerv Syst 2006;22:1072-9.   DOI
15 Azad S, Falder S, Harrison J, Graham K. An adherent dressing for aplasia cutis congenita. Br J Plast Surg 2005;58:1159-61.   DOI
16 Maillet-Declerck M, Vinchon M, Guerreschi P, Pasquesoone L, Dhellemmes P, Duquennoy-Martinot V, et al. Aplasia cutis congenita: review of 29 cases and proposal of a therapeutic strategy. Eur J Pediatr Surg 2013;23:89-93.
17 Rhee ST, Colville C, Buchman SR, Muraszko K. Complete osseous regeneration of a large skull defect in a patient with cutis aplasia: a conservative approach. J Craniofac Surg 2002;13:497-500.   DOI
18 Basterzi Y, Bagdatoglu C, Sari A, Demirkan F. Aplasia cutis congenita of the scalp and calvarium: conservative wound management with novel wound dressing materials. J Craniofac Surg 2007;18:427-9.   DOI
19 Harvey G, Solanki NS, Anderson PJ, Carney B, Snell BJ. Management of aplasia cutis congenita of the scalp. J Craniofac Surg 2012;23:1662-4.   DOI