Epidemiology of aplasia cutis congenita: A population-based study in Europe.
Journal
Journal of the European Academy of Dermatology and Venereology : JEADV
ISSN: 1468-3083
Titre abrégé: J Eur Acad Dermatol Venereol
Pays: England
ID NLM: 9216037
Informations de publication
Date de publication:
Mar 2023
Mar 2023
Historique:
received:
20
07
2022
accepted:
06
10
2022
pubmed:
28
10
2022
medline:
16
2
2023
entrez:
27
10
2022
Statut:
ppublish
Résumé
Aplasia cutis congenita (ACC) is a rare congenital anomaly characterized by localized or widespread absence of skin at birth, mainly affecting the scalp. Most information about ACC exists as individual case reports and medium-sized studies. This study aimed to investigate the epidemiology of ACC, using data from a large European network of population-based registries for congenital anomalies (EUROCAT). Twenty-eight EUROCAT population-based registries in 16 European countries were involved. Poisson regression models were exploited to estimate the overall and live birth prevalence, to test time trends in prevalence between four 5-year periods and to evaluate the impact of the change of coding for ACC from the unspecific ICD9-BPA code to the specific ICD10 code. Proportions of ACC cases associated with other anomalies were reported. Five hundred cases were identified in the period 1998-2017 (prevalence: 5.10 per 100,000 births). Prevalence across 5-year periods did not differ significantly and no significant differences were evident due to the change from ICD9 to ICD10 in ACC coding. Heterogeneity in prevalence was observed across registries. The scalp was the most common site for ACC (96.4%) and associated congenital anomalies were present in 33.8% of cases. Patau and Adams-Oliver syndromes were the most frequent among the associated chromosomal anomalies (88.3%) and the associated genetic syndromes (57.7%), respectively. 16% of cases were associated with limb anomalies and 15.4% with congenital heart defects. A family history of ACC was found in 2% of cases. To our knowledge, this is the only population-based study on ACC. The EUROCAT methodologies provide reliable prevalence estimates and proportions of associated anomalies.
Sections du résumé
BACKGROUND
BACKGROUND
Aplasia cutis congenita (ACC) is a rare congenital anomaly characterized by localized or widespread absence of skin at birth, mainly affecting the scalp. Most information about ACC exists as individual case reports and medium-sized studies.
OBJECTIVES
OBJECTIVE
This study aimed to investigate the epidemiology of ACC, using data from a large European network of population-based registries for congenital anomalies (EUROCAT).
METHODS
METHODS
Twenty-eight EUROCAT population-based registries in 16 European countries were involved. Poisson regression models were exploited to estimate the overall and live birth prevalence, to test time trends in prevalence between four 5-year periods and to evaluate the impact of the change of coding for ACC from the unspecific ICD9-BPA code to the specific ICD10 code. Proportions of ACC cases associated with other anomalies were reported.
RESULTS
RESULTS
Five hundred cases were identified in the period 1998-2017 (prevalence: 5.10 per 100,000 births). Prevalence across 5-year periods did not differ significantly and no significant differences were evident due to the change from ICD9 to ICD10 in ACC coding. Heterogeneity in prevalence was observed across registries. The scalp was the most common site for ACC (96.4%) and associated congenital anomalies were present in 33.8% of cases. Patau and Adams-Oliver syndromes were the most frequent among the associated chromosomal anomalies (88.3%) and the associated genetic syndromes (57.7%), respectively. 16% of cases were associated with limb anomalies and 15.4% with congenital heart defects. A family history of ACC was found in 2% of cases.
CONCLUSION
CONCLUSIONS
To our knowledge, this is the only population-based study on ACC. The EUROCAT methodologies provide reliable prevalence estimates and proportions of associated anomalies.
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
581-589Subventions
Organisme : Medical Research Council
ID : MR/K02325X/1
Pays : United Kingdom
Informations de copyright
© 2022 European Academy of Dermatology and Venereology.
Références
Bajpai M, Pal K. Aplasia cutis cerebri with partial acrania-total reconstruction in a severe case and review of the literature. J Pediatr Surg. 2003;38:E4.
Orphanet. Aplasia cutis congenita. https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=3198&Disease_Disease_Search_diseaseGroup=1114&Disease_Disease_Search_diseaseType=ORPHA&Disease(s)/group%20of%20diseases=Aplasia-cutis-congenita&title=Aplasia%20cutis%20congenita&search=Disease_Search_Simple; (2019). Accessed 14 March 2022.
Frieden IJ. Aplasia cutis congenita: a clinical review and proposal for classification. J Am Acad Dermatol. 1986;14:646-60.
Mesrati H, Amouri M, Chaaben H, Masmoudi A, Boudaya S, Turki H. Aplasia cutis congenita: report of 22 cases. Int J Dermatol. 2015;54:1370-5.
Sathishkumar D, Ogboli M, Moss C. Classification of aplasia cutis congenita: a 25-year review of cases presenting to a tertiary paediatric dermatology department. Clin Exp Dermatol. 2020;45:994-1002.
Brackenrich J, Brown A. Aplasia Cutis Congenita. In: StatPearls [Internet]. Treasure Island, FL: StatPearls Publishing; 2022.
Chiaverini C, Charlesworth A, Fernandez A, Barbarot S, Bessis D, Bodemer C, et al. Aplasia cutis congenita with dystrophic epidermolysis bullosa: clinical and mutational study. Br J Dermatol. 2014;170(4):901-6.
Hsu CH, Tu WT, Chen PC, Yu-Yun Lee J, Hsu CK, Chiu TM. Novel compound heterozygous ITGB4 mutations underlie lethal junctional epidermolysis bullosa with pyloric atresia and aplasia cutis congenita. J Dermatol. 2022;49(5):e154-6.
Marneros AG. BMS1 is mutated in aplasia cutis congenita. PLoS Genet. 2013;9(6):e1003573.
Drolet B, Prendiville J, Golden J, Enjolras O, Esterly NB. 'Membranous Aplasia Cutis' with hair collars: congenital absence of skin or neuroectodermal defect? Arch Dermatol. 1995;131:1427-31.
Üstüner P, Dilek N, Saral Y, Üstüner I. Coexistence of aplasia cutis congenita, faun tail nevus and fetus papyraceus. J Dermatol Case Rep. 2013;7(3):93-6.
Li H, Zheng J, Luo J, Zeng R, Feng N, Zhu N, et al. Congenital anomalies in children exposed to antithyroid drugs in-utero: a meta-analysis of cohort studies. PLoS ONE. 2015;10(5):e0126610.
Romeo AN, Običan SG. Teratogen update: antithyroid medications. Birth Defects Res. 2020;112:1150-60.
Martínez-Lage JF, Almagro MJ, López Hernández F, Poza M. Aplasia cutis congenita of the scalp. Childs Nerv Syst. 2002;18(11):634-7.
Sharif S, Hay CR, Clayton-Smith J. Aplasia cutis congenita and low molecular weight heparin. BJOG. 2005;112(2):256-8.
Mihçi E, Erişir S, Taçoy S, Lüleci G, Alpsoy E, Oygür N. Aplasia cutis congenita: three cases with three different underlying etiologies. Turk J Pediatr. 2009;51(5):510-4.
Pajaziti L, Rexhepi S, Shatri-Muça Y, Ferizi M. The role of diclofenac on inducing of aplasia cutis congenita: a case report. Cases J. 2009;2:150.
Zhou J, Zheng L, Tao W. Systemic aplasia cutis congenita: a case report and review of the literature. Pathol Res Pract. 2010;206:504-7.
Duan X, Yang G, Yu D, Yu C, Wang B, Guo Y. Aplasia cutis congenita: a case report and literature review. Exp Ther Med. 2015;10:1893-5.
Perry BM, Maughan CB, Crosby MS, Hadenfeld SD. Aplasia cutis congenita type V: a case report and review of the literature. Int J Dermatol. 2017;56:e118-21.
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.
Chessa MA, Filippi F, Patrizi A, Vollono L, Sechi A, D'Ercole M, et al. Aplasia cutis: clinical, dermoscopic findings and management in 45 children. J Eur Acad Dermatol Venereol. 2020;34:e724-6.
Kuemmet TJ, Miller JJ, Michalik D, Lew SM, Maheshwari M, Humphrey SR. Low risk of clinically important central nervous system dysraphism in a cohort study of 69 patients with isolated aplasia cutis congenita of the head. Pediatr Dermatol. 2020;37:455-60.
Schierz IAM, Giuffrè M, Del Vecchio A, Antona V, Corsello G, Piro E. Recognizable neonatal clinical features of aplasia cutis congenita. Ital J Pediatr. 2020;46:25.
Yang M-Y, Ha D-L, Kim H-S, Ko H-C, Kim B-S, Kim M-B. Aplasia cutis congenita in Korea: single center experience and literature review. Pediatr Int. 2020;62:804-9.
EUROCAT Guide 1.4: Instruction for the registration of congenital anomalies. EUROCAT Central Registry. University of Ulster; 2021. https://eu-rd-platform.jrc.ec.europa.eu/eurocat/data-collection/guidelines-for-data-registration_en. Accessed 14 March 2022.
Boyd PA, Haeusler M, Barisic I, Loane M, Garne E, Dolk H. Paper 1: The EUROCAT network-organization and processes. Birth Defects Res A Clin Mol Teratol. 2011;91(Suppl 1):S2-15.
EUROCAT. Members Registries. https://eu-rd-platform.jrc.ec.europa.eu/eurocat/eurocat-members/registries_en. Accessed 14 March 2022.
Kinsner-Ovaskainen A, Lanzoni M, Garne E, Loane M, Morris J, Neville A, et al. A sustainable solution for the activities of the European network for surveillance of congenital anomalies: EUROCAT as part of the EU Platform on Rare Diseases Registration. Eur J Med Genet. 2018;61(9):513-7.
Tucker FD, Morris JK, JRC Management Committee, Neville A, Garne E, Kinsner-Ovaskainen A, et al. EUROCAT: an update on its functions and activities. J Community Genet. 2018;9(4):407-10.
StataCorp. Stata Statistical Software: Release 16. College Station, TX: StataCorp LLC; 2019.
Orphanet Report Series. Prevalence, incidence or reported number of published cases listed in alphabetical order of disease January 2022. https://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf.
Browning JC. Aplasia cutis congenita: approach to evaluation and management. Dermatol Ther. 2013;26:439-44.