EC Gynaecology

Case Report Volume 12 Issue 1 - 2023

Prenatal Diagnosis of Aplasia Cutis Congenita on the Superior and Inferior Limbs with 2D Ultrasound: Case Report

Kariman Ghazal MD1,2,3*, Mira Hdeib MD2,3, Imad Abou Jaoude MD4 and Jihad El Hassan1,3,5

1Assistant Professor, Obstetrics and Gynaecology Department, Lebanese University, Beirut, Lebanon

2Obstetrics and Gynaecology Department, Al Zahraa Hospital University Medical Centre, Beirut, Lebanon

3Obstetrics and Gynecology Department, Rafik Hariri Hospital University Medical Center, Beirut, Lebanon

4Medical Director, Head of Obstetrics and Gynaecology Department, Director IVF Center Abou Jaoude Hospital, Jal El Dib, Lebanon

5Head of Obstetrics and Gynaecology Department, Al Zahraa Hospital University Medical Centre, Beirut, Lebanon

*Corresponding Author: Kariman Ghazal, Assistant Professor, Obstetrics and Gynaecology Department, Lebanese University, Beirut, Lebanon.
Received: November 21, 2022; Published: December 26, 2022



Background: A section of the skin is absent at birth in Aplasia Cutis Congenital (ACC), a condition that can be localized or generalized. This illness affects 0.1 out of every 100,000 newborns. In 60% of instances, it mostly affects the scalp. Statistics show that of all ACC instances, 12% include the trunk and flanks and 25% entail impairment of the lower limbs. Although the exact reasons are unknown, the wounds are linked to genetic factors, teratogens (including alcohol, cocaine, marijuana, heroin, misoprostol, methimazole, and carbimazole), decreased blood flow to the skin, trauma, amniotic bands, and chromosomal problems (trisomy 13).

Case Description: We discuss a case of a female fetus with Aplasia cutis congenital (ACC) on the superior and inferior limbs, which was discovered by a basic fetal abnormality scan at 23 weeks. Small diverse instances have so far been documented globally. This case is the first comprehensive 2D prenatal diagnosis by using ultrasound, the lesions are identified and believed due to familiarity history.

A female patient was delivered vaginally at term. On both her superior and inferior extremities, she is showing a complete loss of skin integument, affecting about 17% of her body surface. Treatment with regional flaps and cream is appropriate given the size and location of the wound.

Conclusion: Because ACC is so uncommon and there were so few patients in each published series in the literature, standardization of treatment is still in its early stages. Additional research is required to diagnose this condition during pregnancy, particularly with ultrasound to assess therapy options.

Keywords: Aplasia Cutis Congenital; Lower Limbs; Malformation; Treatment; Prenatal Ultrasound

  1. Chessa MA., et al. “Aplasia cutis: clinical, dermoscopic findings and management in 45 children”. The Journal of the European Academy of Dermatology and Venereology 34 (2020): e724.
  2. AKC Leung., et al. “Aplasia cutis congenita as a sole manifestation of congenital varicella syndrome”. Case Reports in Pediatrics (2020): 4.
  3. M Cordon. “Extrait d’une letter au sujet de trois enfants de la meme mere nes avec partie des extremities denee de peau”. Journal of Medical and Pharmaceutical Innovation 26 (1767): 556-557.
  4. X Duan., et al. “Aplasia cutis congenita: a case report and literature review”. Experimental and Terapeutic Medicine 5 (2015): 1893-1895.
  5. Saeidi M and Ehsanipoor F. “A Case of Adams-Oliver Syndrome”. Advanced Biomedical Research (2017).
  6. J Frieden. “Aplasia cutis congenita: a clinical review and proposal for classification”. Journal of the American Academy of Dermatology4 (1986): 646-660.
  7. Alfayez Y., et al. “A Case of Aplasia Cutis Congenita Type VI: Bart Syndrome”. Case Reports in Dermatology (2017).
  8. Graul-Neumann LM., et al. “Autosomal dominant inheritance in a large family with focal facial dermal dysplasia (Brauer-Setleis syndrome)”. American Journal of Medical Genetics. Part A (2009).
  9. Humphrey SR., et al. “A practical approach to the evaluation and treatment of an infant with aplasia cutis congenita”. Journal of Perinatology: Official Journal of the California Perinatal Association (2018).
  10. Sachs C., et al. “[Aplasia cutis congenita and antithyroid drugs during pregnancy: Case series and literature review]”. Annales de Dermatologie et de Venereologie (2016).
  11. Vargo JD., et al. “Prenatal Diagnosis of Fetal Cranial Anomalies”. In: Meyer U. (editions) Fundamentals of Craniofacial Malformations. Springer, Cham (2021).
  12. Karakawa Ryo., et al. “Use of Ultra-high-frequency Ultrasound for Aplasia Cutis Congenita of the Scalp”. Plastic and Reconstructive Surgery - Global Open10 (2021): e3876.
  13. Atik B., et al. “Asymmetrical nonscalp aplasia cutis congenita: a case report”. Journal of Dermatology 11 (2004): 923-926.
  14. Tsur H., et al. “Impending Volkmann’s contracture in a newborn”. Annals of Plastic Surgery4 (1980): 317-320.
  15. Léauté-Labrèze C., et al. “Congenital cutaneous defects as complications in surviving co-twins: aplasia cutis congenita and neonatal Volkmann ischemic contracture of the forearm”. Archives of Dermatological 9 (1998): 1121-1124.
  16. Mesrati H., et al. “Aplasia cutis congenita: report of 22 cases”. International Journal of Dermatology (2015).
  17. Patel DP., et al. “Aplasia cutis congenita: Evaluation of signs suggesting extracutaneous involvement”. Pediatric Dermatology (2018).
  18. Belkhou A., et al. “[Aplasia cutis congenita: Update and management]”. Annales de Chirurgie Plastique et Esthetique (2016).
  19. Bessis D., et al. “The scalp hair collar and tuft signs: A retrospective multicenter study of 78 patients with a systematic review of the literature”. Journal of the American Academy of Dermatology (2017).
  20. Betancourth-Alvarenga JE., et al. “[Surgical management of aplasia cutis congenita]”. Anales de Pediatria (2015).

Kariman Ghazal., et al. Prenatal Diagnosis of Aplasia Cutis Congenita on the Superior and Inferior Limbs with 2D Ultrasound: Case Report. EC Gynaecology 12.1 (2023): 90-96.