Skip to main content

Advertisement

SpringerLink
Log in

Large aplasia cutis congenita of the vertex conservative management

  • Case-based Review
  • Published:
Child's Nervous System Aims and scope Submit manuscript

Abstract

Background

Aplasia cutis congenita (ACC) of the vertex with bone defect is a rare and begnin anomaly that can involve the epidermis, dermis, and subcutaneous tissues of the scalp with significant bone defect Bajpai and Pal (J Pediatr Surg 38(2):e4, 2003). When associated with skull defect, this rare malformation carries the risk of severe complications such as rupture of the superior sagittal sinus or infections.

Methods and results

We report a case of aplasia cutis congenita of the scalp with skull defect measuring 9 × 10 cm and an exposed sagittal sinus in a newborn. Both conservative and surgical methods have been proposed to treat this condition. In our case, conservative treatment was planned led to complete epithelization and the patient was healing well at 5 years of follow-up.

Conclusions

ACC of the vertex with a large scalp defects present a management dilemma Rocha et al. (Clin Case Rep 3(10):841–4, 2015). Based on a review of the literature, we report this case to demonstrate that even for the largest skin and bone defects, an initial conservative approach may allow for complete wound closure without the need for early surgical intervention.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1
Fig. 2
Fig. 3
Fig. 4
Fig. 5

Similar content being viewed by others

References

  1. Caksen H, Kurtoglu S (2002) Our experience with aplasia cutis congenita. J Dermatol 29(6):376–379

    Article  PubMed  Google Scholar 

  2. AlShehri W, AlFadil S, AlOthri A, Alabdulkarim AO, Wani SA, Rabah SM (2016) Aplasia cutis congenita of the scalp with a familial pattern a case report. World J Plast Surg 5(3):298–302. PMID: 27853695; PMCID: PMC5109393. https://doi.org/10.1155/2016/4264721

  3. Komuro Y, Yanai A, Seno H et al (2002) Surgical treatment of aplasia cutis congenita of the scalp associated with bilateral coronal synostosis. J Craniofac Surg 13:513–519

    Article  PubMed  Google Scholar 

  4. Martinez-Large JF, Almagro MJ, Hernandez FL et al (2002) Aplasia cutis congenita of the scalp. Childs Nerv Syst 18:634Y637

  5. Kantor J, Yan AC, Hivnor MC et al (2005) Extensive aplasia cutis congenita and the risk of sagittal sinus thrombosis. Arch Dermatol 141:554Y556

  6. Bajpai M, Pal K (2003) Aplasia cutis cerebri with partial acrania total reconstruction in a severe case and review of the literature. J Pediatr Surg 38(2):e4. https://doi.org/10.1053/jpsu.2003.50064. PMID: 12596124

    Article  PubMed  Google Scholar 

  7. Marneros AG (2013) BMS1 is mutated in aplasia cutis congenita. PLoS Genet 9(6):e1003573

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  8. Orgun D, Horiguchi M, Hayashi A, Shimoji K, Arai H, Mizuno H (2017) Conservative treatment of large aplasia cutis congenita of the scalp with bone defect with basic fibroblast growth factor application. J Craniofac Surg 28(2):e154–e158. https://doi.org/10.1097/SCS.0000000000003347. PMID: 28045831

    Article  PubMed  Google Scholar 

  9. Ingall NW (1933) Congenital defects of the scalp; studies in pathology of development. Am J Obstet Gynecol 25:861–873

    Article  Google Scholar 

  10. Rudolph RI, SchwartzW LII (1974) Bitemporal aplasia cutis congenita. Occurrence with other cutaneous abnormalities. Arch Dermatol 110:615–618

    Article  CAS  PubMed  Google Scholar 

  11. Frieden IJ (1986) Aplasia cutis congenita: a clinical review and proposal for classification. J Am Acad Dermatol 14:646–660

    Article  CAS  PubMed  Google Scholar 

  12. Winston KR, Ketch LL (2016) Aplasia cutis congenita of the scalp, composite type: The criticality and inseparability of neurosurgical and plastic surgical management. KARGER 51:111-120. https://doi.org/10.1159/000442989

  13. Johnson R, Offiah A, Cohen MC (2015) Fatal superior sagittal sinus hemorrhage as a complication of aplasia cutis congenita a case report and literature review. Forensic Sci Med Pathol 11:243–248

    Article  PubMed  Google Scholar 

  14. Alexondros B, Dimitrios G, Elias A, Evangelis D, Andreas M, Sotirios P et al (2017) Aplasia cutis congenita two case reports and discussion of the literature. Surg Neurol Int 8(1):273–278. https://doi.org/10.4103/sni.sni_188_17

    Article  Google Scholar 

  15. Sohrabi H, Yousefi-Sharmi SR, Sohrabi R (2020) Extensive aplasia cutis congenita a case report. J Obstet Gynecol Cancer Res 5(4):172–174

    Article  Google Scholar 

  16. Wu Y, Liu J, Luo Q (2021) Isolated aplasia cutis congenita: a report of two cases. Clin Case Rep 9:e04671. https://doi.org/10.1002/ccr3.4671

    Article  PubMed  PubMed Central  Google Scholar 

  17. Kuang F, Zhang Z, Chen B, Zhao Y, Li XJ (2014) Combined conservative and surgical management for aplasia cutis congenita a case report and review of the literature. Wounds 26(9):273–279 PMID: 25860783

    PubMed  Google Scholar 

  18. Rocha D, Rodrigues J, Marques JS, Pinto R, Gomes A (2015) Aplasia cutis congenita a conservative approach of a case with large, extensive skin and underlying skull defect. Clin Case Rep 3(10):841–4. https://doi.org/10.1002/ccr3.361. Epub 2015 Sep 2. PMID: 26509020; PMCID: PMC4614653

  19. Starcevic M, SepecMP ZahV (2010) A case of extensive aplasia cutis congenita: a conservative approach. Pediatr Dermatol 27:540–542

    Article  PubMed  Google Scholar 

  20. Yang JY et al (2000) Large scalp and skull defect in aplasia cutis congenita. Br J Plast Surg 53(7):619–622. https://doi.org/10.1054/bjps.2000.3406

    Article  CAS  PubMed  Google Scholar 

  21. Saraiya HA (2002) Management of aplasia cutis congenita of the scalp: a continuing enigma. Br J Plast Surg 55(8):707–708. https://doi.org/10.1054/bjps.2002.3963. PMID: 12550142

    Article  PubMed  Google Scholar 

  22. Rhee ST, Colville C, Buchman SR, Muraszko K (2002) Complete osseous regeneration of a large skull defect in a patient with cutis aplasia a conservative approach. J Craniofac Surg 13:497–500

    Article  PubMed  Google Scholar 

  23. Bang RL, Ghoneim IE, Gang RK, Al Najjadah I (2003) Treatment dilemma conservative versus surgery in cutis aplasia congenita. Eur J Pediatr Surg 13(2):125–129. https://doi.org/10.1055/s-2003-39562

    Article  CAS  PubMed  Google Scholar 

  24. Basterzi Y, Bagdatoglu C, Sari A et al (2007) Aplasia cutis congenita of the scalp and calvarium: conservative wound management with novel wound dressing materials. J Craniofac Surg 18:427–429

    Article  PubMed  Google Scholar 

  25. Burkhead A, Poindexter G, Morrell DS (2009) A case of extensive aplasia cutis congenitawithunderlyingskull defect and central nervous system malformation: discussion of large skin defects, complications, treatment and outcome. J Perinatol 29:582–584. https://doi.org/10.1038/jp.2008.250

    Article  CAS  PubMed  Google Scholar 

  26. Frojd V, Maltese G, Kolby L et al (2014) Conservative healing of an 11 _ 9-cm aplasia cutis congenita of the scalp with bone defect. J Neurol Surg Rep 75:220–223

    Article  Google Scholar 

  27. Maeda T, Oyama A, Funayama E et al (2015) Successful conservative management of a large congenital scalp and skull defect. J Craniofac Surg 26:275–277

    Article  Google Scholar 

  28. Betancourth-Alvarenga JE, Vázquez-Rueda F, Vargas-Cruz V, Paredes-Esteban RM, Ayala-Montoro J (2015) Manejoquirúrgico de la aplasia cutis congénita. An Pediatr (Barc) 83:341–345. https://doi.org/10.1016/j.anpede.2015.09.010

    Article  CAS  PubMed  Google Scholar 

  29. Puvabanditsin S, February M, Garrow E et al (2016) Our experience with a severe case of aplasia cutis congenita with a large skull defect. Int J Dermatol 55:1151–1153. https://doi.org/10.1111/ijd.13008

    Article  PubMed  Google Scholar 

  30. Lonie S, Phua Y, Burge J (2016) Technique for management of aplasia cutis congenita of the scalp with a skin allograft. J Craniofac Surg Jun 27(4):1049–50. https://doi.org/10.1097/SCS.0000000000002610. PMID: 27171959

  31. de Oliveira RS, Pinho VF, Viana DC, Santos MV, Ballestero MFM (2022) Acutis dermal dysplasia: a review. Archives of Pediatric Neurosurgery. 4(1 (January-April)):e1092022. https://doi.org/10.46900/apn.v4i1(January-April).109

Download references

Author information

Authors and Affiliations

  1. Department of Neurosurgery, National Institute of Neurology”Mongi Ben Hmida”, Tunis Faculty of Medicine, University of Tunis El Manar, Tunis, Tunisia

    Sofiene Bouali, Khalil Ghedira, Haifa Mechergui, Khansa Abderrahmen & Jalel Kallel

  2. Reconstructive & Aesthetic Surgery Department, Trauma & Burns Center, Ben Arous, Tunisia

    Sarah Houimli Charfeddine

Authors
  1. Sofiene Bouali
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Sarah Houimli Charfeddine
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Khalil Ghedira
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Haifa Mechergui
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Khansa Abderrahmen
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Jalel Kallel
    View author publications

    You can also search for this author in PubMed Google Scholar

Contributions

A.B. wrote the main manuscript text A. prepared figures and tables

Corresponding author

Correspondence to Sofiene Bouali.

Ethics declarations

Consent for publication

The parents of the patient have signed informed consent regarding the publication of their data in this case report and the photographs in Figs. 1, 2, and 5. A copy of the written consent is available for review by the Editor-in-Chief of this journal on request.

Conflict of interest

The authors declare no competing interests.

Additional information

Publisher's Note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Rights and permissions

Springer Nature or its licensor (e.g. a society or other partner) holds exclusive rights to this article under a publishing agreement with the author(s) or other rightsholder(s); author self-archiving of the accepted manuscript version of this article is solely governed by the terms of such publishing agreement and applicable law.

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Bouali, S., Charfeddine, S.H., Ghedira, K. et al. Large aplasia cutis congenita of the vertex conservative management. Childs Nerv Syst 40, 285–292 (2024). https://doi.org/10.1007/s00381-023-06190-x

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00381-023-06190-x

Keywords

Search

Navigation