Aplasia Cutis Congenita

Reference work entry

Aplasia cutis congenita (ACC) is a clinical description of the absence of the skin at birth, first described by Cordon in 1767. It is a heterogeneous group of disorders characterized by absence of epidermis, dermis, and, sometimes, subcutaneous tissue, muscle, or bone on one or more parts of the body. The incidence is estimated to be 1 in 10,000 births.

Synonyms and Related Disorders

Aplasia cutis congenita associated with epidermolysis bullosa (simplex, junctional, dystrophic); Congenital scalp defect; Congenital skull and scalp defect

Genetics/Basic Defects

  1. 1.
    Etiological theories
    1. a.
      Amniogenic theory (Frieden 1986)
      1. i.

        Adhesion of the amniotic membrane to the fetal skin might tear off, leaving absent areas of skin

      2. ii.

        Not supported by the study of placentas because most placentas are normal

    2. b.

      Vascular theory: assumes thromboplastic material from a fetus papyraceus (mummified dead fetus) as the causes of skin damage

    3. c.

      Placental abnormalities

    4. d.

      Biomechanical forces on the...


Biliary Atresia Epidermolysis Bullosa Gonadal Dysgenesis Ectodermal Dysplasia Pyloric Atresia 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


  1. Achiron, R., Hamel-Pinchas, O., Engelberg, S., et al. (1992). Aplasia cutis congenita associated with Epidermolysis bullosa and pyloric atresia: The diagnostic role of prenatal ultrasonography. Prenatal Diagnosis, 12, 765–771.PubMedCrossRefGoogle Scholar
  2. Al-Sawan, R. M. Z., Soni, A. L., Al-Kobrosly, A. M., et al. (1999). Truncal aplasia cutis congenita associated with ileal atresia and mesenteric defect. Pediatric Dermatology, 16, 408–409.PubMedGoogle Scholar
  3. Argenta, L. C., & Dingman, R. O. (1986). Total reconstruction of aplasia cutis congenita involving scalp, skull, and dura. Plastic and Reconstructive Surgery, 77, 650–653.PubMedCrossRefGoogle Scholar
  4. Aygun, A. D., Kurt, A. N. C., Elkiran, O., et al. (2010). Aplasia cutis congenita and epidermolysis bullosa: Bart syndrome. International Journal of Dermatology, 49, 334–548.CrossRefGoogle Scholar
  5. Boente, M. C., Frontini, M. V., Acosta, M. I., et al. (1995). Extensive symmetric truncal aplasia cutis congenita without fetus papyraceous or macroscopic evidence of placental abnormalities. Prenatal Diagnosis, 12, 228–230.Google Scholar
  6. Burkhead, A., Poindexter, G., & Morrell, D. S. (2009). A case of extensive Aplasia Cutis Congenita with underlying skull defect and central nervous system malformation: Discussion of large skin defects, complications, treatment. Journal of Perinatology, 29, 582–584.PubMedCrossRefGoogle Scholar
  7. Cambiaghi, S., Gelmetti, C., & Nicolini, U. (1998). Prenatal findings in membranous aplasia cutis. Journal of the American Academy of Dermatology, 39, 638–640.PubMedCrossRefGoogle Scholar
  8. Cambiaghi, S., Schiera, A., Tasin, L., et al. (2001). Aplasia cutis congenita in surviving co-twins: Four unrelated cases. Pediatric Dermatology, 18, 511–515.PubMedCrossRefGoogle Scholar
  9. Carmi, R., Sfer, S., Karplus, M., et al. (1982). Aplasia cutis congenita in two sibs discordant for pyloric atresia. American Journal of Medical Genetics, 11, 319–329.PubMedCrossRefGoogle Scholar
  10. Chitnis, M. R., Carachi, R., & Galea, P. (1996). Familial aplasia cutis congenita. European Journal of Pediatric Surgery, 35, 100–101.CrossRefGoogle Scholar
  11. Classen, D. A. (1999). Aplasia cutis congenita associated with fetus papyraceous. Cutis, 64, 104–106.PubMedGoogle Scholar
  12. Cordon, M. (1767). Extrait d’une lettre au sujet de trois enfants de la même mère né avec partie des extrémités denuée de peau. Journal of Medicine Chiropractic Pharmacy, 26, 556–557.Google Scholar
  13. Cowton, J. A. L., Beattie, T. J., Gibson, A. A. M., et al. (1982). Epidermolysis bullosa in association with aplasia cutis congenita and pyloric atresia. Acta Paediatrica Scandinavica, 71, 155–160.PubMedCrossRefGoogle Scholar
  14. De Groot, W. G., Postuma, R., & Hunter, A. G. W. (1978). Familial pyloric atresia associated with epidermolysis bullosa. Journal of Pediatrics, 92, 429–431.PubMedCrossRefGoogle Scholar
  15. Demmel, U. (1975). Clinical aspects of congenital skin defects. I. Congenital skin defects on the head of the newborn. II. Congenital skin defects on the trunk and extremities of the newborn. III. Causal and formal genesis of congenital skin defects of the newborn. European Journal of Pediatrics, 121, 21–50.PubMedCrossRefGoogle Scholar
  16. Dror, Y., Gelman-Kohan, Z., Hagai, Z., et al. (1994). Aplasia cutis congenita, elevated alpha-fetoprotein, and a distinct amniotic fluid acetylcholinesterase electrophoretic band. American Journal of Perinatology, 11, 149–152.PubMedCrossRefGoogle Scholar
  17. Evers, M. E. J. W., Steijlen, P. M., & Hamel, B. C. J. (1995). Aplasia cutis congenita and associated disorders: An update. Clinical Genetics, 47, 295–301.PubMedCrossRefGoogle Scholar
  18. Farine, D., Maidman, J., Rubin, S., et al. (1988). Elevated α-fetoprotein in pregnancy complicated by aplasia cutis after exposure to methimazole. Obstetrics and Gynecology, 35, 996–997.Google Scholar
  19. Fisher, M., & Schneider, R. (1973). Aplasia cutis congenita in three successive generations. Archives of Dermatology, 108, 252–253.PubMedCrossRefGoogle Scholar
  20. Fonseca, W., Alencar, A. J. C., Pereira, R. M. M., et al. (1993). Congenital malformation of the scalp and cranium after failed first trimester abortion attempt with Misoprostol. Clinical Dysmorphology, 2, 76–80.PubMedCrossRefGoogle Scholar
  21. Frieden, U. (1986). Aplasia cutis congenita: A clinical review and proposal for classification. Journal of the American Academy of Dermatology, 14, 646–660.PubMedCrossRefGoogle Scholar
  22. Gerber, M., de Veciana, M., Towers, C. V., et al. (1995). Aplasia cutis congenita: A rare cause of elevated alpha-fetoprotein levels. American Journal of Obstetrics and Gynecology, 172, 1040–1041.PubMedCrossRefGoogle Scholar
  23. Irons, G. B., & Olson, R. M. (1980). Aplasia cutis congenita. Plastic and Reconstructive Surgery, 66, 199–203.PubMedCrossRefGoogle Scholar
  24. Joshi, R. K., Majeed-Saidan, M. A., Abanmi, A., et al. (1991). Aplasia cutis congenita with fetus papyraceous. Journal of the American Academy of Dermatology, 25, 1083–1085.PubMedCrossRefGoogle Scholar
  25. Kelly, B. J., Samolitis, N. J., Xie, D. L., et al. (2002). Aplasia cutis congenita of the trunk with fetus papyraceus. Pediatric Dermatology, 19, 326–329.PubMedCrossRefGoogle Scholar
  26. Kosnik, E. J., & Sayers, M. P. (1975). Congenital scalp defects: Aplasia cutis congenita. Journal of Neurosurgery, 42, 32–36.PubMedCrossRefGoogle Scholar
  27. Lane, W., & Zanol, K. (2000). Duodenal atresia, biliary atresia, and intestinal infarct in truncal aplasia cutis congenita. Pediatric Dermatology, 17, 290–292.PubMedCrossRefGoogle Scholar
  28. Mannino, F. L., Lyons Jones, K., & Benirschke, K. (1977). Congenital skin defects and fetus papyraceous. Journal of Pediatrics, 91, 559–564.PubMedCrossRefGoogle Scholar
  29. McCray, M. K., & Roenigk, H. H. (1981). Scalp reduction for correction of cutis aplasia congenita. Journal of Dermatologic Surgery and Oncology, 7, 655–658.PubMedGoogle Scholar
  30. Snape, K. M. G., Ruddy, D., Zenker, M., et al. (2009). The spectra of clinical phenotypes in aplasia cutis congenita and terminal transverse limb defects. American Journal of Medical Genetics. Part A, 149A, 1860–1881.PubMedCrossRefGoogle Scholar
  31. Sybert, V. P. (1985). Aplasia cutis congenita: A report of 12 new families and review of the literature. Pediatric Dermatology, 3, 1–4.PubMedCrossRefGoogle Scholar
  32. Vogt, T., Stolz, W., & Landthaler, M. (1995). Aplasia cutis congenita after exposure to methimazole: A causal relationship? British Journal of Dermatology, 133, 994–996.PubMedCrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media, LLC 2012

Personalised recommendations