Skip to main content

Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

  • State of the Art
  • Published:

State-of-the-Art

A practical approach to the evaluation and treatment of an infant with aplasia cutis congenita

Abstract

Aplasia cutis congenita (ACC) is a term describing absence of skin at birth. ACC is a rare cutaneous finding, often noted with no other physical abnormalities. The etiology of ACC varies, and there are likely several causes for its development. ACC can be located anywhere on the body. Its clinical appearance and location can alert the clinician to other potential abnormalities and associations. This discussion covers the diagnosis of ACC and its subtypes and associations in order to provide a pragmatic, clinically relevant and patient-centered approach to evaluation and treatment.

This is a preview of subscription content, access via your institution

Access options

Rent or buy this article

Prices vary by article type

from$1.95

to$39.95

Prices may be subject to local taxes which are calculated during checkout

References

  1. Cordon M . Extrait dune lettre au sujet de trois enfants de la meme mere nes avec partie des extremites denuee de peau. J Méd Chir Pharmacie 1767; 26: 556–557.

    Google Scholar 

  2. Browning JC . Aplasia cutis congenita: approach to evaluation and management. Dermatol Ther 2013; 26 (6): 439–444.

    Article  PubMed  Google Scholar 

  3. Demmel U . Clinical aspects of congenital skin defects. I. Congenital skin defects on the head of the newborn. Eur J Pediatr 1975; 121 (1): 21–50.

    Article  CAS  PubMed  Google Scholar 

  4. Baselga E, Torrelo A, Drolet BA, Zambrano A, Alomar A, Esterly NB . Familial nonmembranous aplasia cutis of the scalp. Pediatr Dermatol 2005; 22 (3): 213–217.

    Article  PubMed  Google Scholar 

  5. Balasubramanian M, Collins AL . Aplasia cutis congenita, terminal limb defects and periventricular leukomalacia in one sibling with minor findings in the other-probable autosomal recessive Adams-Oliver Syndrome. Eur J Med Genet 2009; 52 (4): 234–238.

    Article  PubMed  Google Scholar 

  6. Benjamin LT, Trowers AB, Schachner LA . Giant aplasia cutis congenita without associated anomalies. Pediatr Dermatol 2004; 21 (2): 150–153.

    Article  PubMed  Google Scholar 

  7. Frieden IJ . Aplasia cutis congenita: a clinical review and proposal for classification. J Am Acad Dermatol 1986; 14 (4): 646–660.

    Article  CAS  PubMed  Google Scholar 

  8. Evers ME, Steijlen PM, Hamel BC . Aplasia cutis congenita and associated disorders: an update. Clin Genet 1995; 47 (6): 295–301.

    Article  CAS  PubMed  Google Scholar 

  9. Droubi D, Rothman IL . Aplasia cutis congenita of the arm with associated radial dysplasia: case report, review of the literature, and proposed classification. Pediatr Dermatol 2014; 31 (3): 356–359.

    Article  PubMed  Google Scholar 

  10. Sybert VP . Aplasia cutis congenita: a report of 12 new families and review of the literature. Pediatr Dermatol 1985; 3 (1): 1–14.

    Article  CAS  PubMed  Google Scholar 

  11. Kruk-Jeromin J, Janik J, Rykała J . Aplasia cutis congenita of the scalp. Report of 16 cases. Dermatol Surg 1998; 24 (5): 549–553.

    Article  CAS  PubMed  Google Scholar 

  12. Lam J, Dohil MA, Eichenfield LF, Cunningham BB . SCALP syndrome: sebaceous nevus syndrome, CNS malformations, aplasia cutis congenita, limbal dermoid, and pigmented nevus (giant congenital melanocytic nevus) with neurocutaneous melanosis: a distinct syndromic entity. J Am Acad Dermatol 2008; 58 (5): 884–888.

    Article  PubMed  Google Scholar 

  13. Stephan MJ, Smith DW, Ponzi JW, Alden ER . Origin of scalp vertex aplasia cutis. J Pediatr 1982; 101 (5): 850–853.

    Article  CAS  PubMed  Google Scholar 

  14. Cambiaghi S, Maffeis L, Restano L, Gelmetti C . Hypertrophic scarring is the usual outcome of non-membranous aplasia cutis of the scalp. Pediatr Dermatol 2009; 26 (3): 362–363.

    Article  PubMed  Google Scholar 

  15. 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 (12): 1427–1431.

    Article  CAS  PubMed  Google Scholar 

  16. Drolet BA, Baselga E, Gosain AK, Levy ML, Esterly NB . Preauricular skin defects. A consequence of a persistent ectodermal groove. Arch Dermatol 1997; 133 (12): 1551–1554.

    Article  CAS  PubMed  Google Scholar 

  17. Drolet BA, Clowry L, McTigue MK, Esterly NB . The hair collar sign: marker for cranial dysraphism. Pediatrics 1995; 96 (2 Pt 1): 309–313.

    CAS  PubMed  Google Scholar 

  18. Swartz EN, Sanatani S, Sandor GG, Schreiber RA . Vascular abnormalities in Adams-Oliver syndrome: cause or effect? Am J Med Genet 1999; 82 (1): 49–52.

    Article  CAS  PubMed  Google Scholar 

  19. Muakkassa KF, King RB, Stark DB . Nonsurgical approach to congenital scalp and skull defects. J Neurosurg 1982; 56 (5): 711–715.

    Article  CAS  PubMed  Google Scholar 

  20. Kim CS, Tatum SA, Rodziewicz G . Scalp aplasia cutis congenita presenting with sagittal sinus hemorrhage. Arch Otolaryngol Head Neck Surg 2001; 127 (1): 71–74.

    Article  CAS  PubMed  Google Scholar 

  21. Seo JK, Kang JH, Lee HJ, Lee D, Sung HS, Hwang SW . A case of Adams-Oliver syndrome. Ann Dermatol 2010; 22 (1): 96–98.

    Article  PubMed  PubMed Central  Google Scholar 

  22. Mempel M, Abeck D, Lange I, Strom K, Caliebe A, Beham A et al. The wide spectrum of clinical expression in Adams-Oliver syndrome: a report of two cases. Br J Dermatol 1999; 140 (6): 1157–1160.

    Article  CAS  PubMed  Google Scholar 

  23. Baskar S, Kulkarni ML, Kulkarni AM, Vittalrao S, Kulkarni PM . Adams-Oliver syndrome: additions to the clinical features and possible role of BMP pathway. Am J Med Genet A 2009; 149A (8): 1678–1684.

    Article  CAS  PubMed  Google Scholar 

  24. Lin AE, Westgate MN, van der Velde ME, Lacro RV, Holmes LB . Adams-Oliver syndrome associated with cardiovascular malformations. Clin Dysmorphol 1998; 7 (4): 235–241.

    Article  CAS  PubMed  Google Scholar 

  25. Zapata HH, Sletten LJ, Pierpont ME . Congenital cardiac malformations in Adams-Oliver syndrome. Clin Genet 1995; 47 (2): 80–84.

    Article  CAS  PubMed  Google Scholar 

  26. Piazza AJ, Blackston D, Sola A . A case of Adams-Oliver syndrome with associated brain and pulmonary involvement: further evidence of vascular pathology? Am J Med Genet A 2004; 130A (2): 172–175.

    Article  PubMed  Google Scholar 

  27. Toriello HV, Lacassie Y, Droste P, Higgins JV . Provisionally unique syndrome of ocular and ectodermal defects in two unrelated boys. Am J Med Genet 1993; 45 (6): 764–766.

    Article  CAS  PubMed  Google Scholar 

  28. Peacock JD, Dykema KJ, Toriello HV, Mooney MR, Scholten DJ, Winn ME et al. Oculoectodermal syndrome is a mosaic RASopathy associated with KRAS alterations. Am J Med Genet A 2015; 167 (7): 1429–1435.

    Article  CAS  PubMed  Google Scholar 

  29. Fickie MR, Stoler JM . Oculo-ectodermal syndrome: report of a case with mosaicism for a deletion on Xq12. Am J Med Genet A 2011; 155A (12): 3122–3124.

    Article  PubMed  Google Scholar 

  30. Habib F, Elsaid MF, Salem KY, Ibrahim KO, Mohamed K . Oculo-ectodermal syndrome: a case report and further delineation of the syndrome. Qatar Med J 2014; 2014 (2): 114–122.

    Article  PubMed  PubMed Central  Google Scholar 

  31. Ardinger HH, Horii KA, Begleiter ML . Expanding the phenotype of oculoectodermal syndrome: possible relationship to encephalocraniocutaneous lipomatosis. Am J Med Genet A 2007; 143A (24): 2959–2962.

    Article  PubMed  Google Scholar 

  32. Bart BJ, Gorlin RJ, Anderson VE, Lynch FW . Congenital localized absence of skin and associated abnormalities resembling epidermolysis bullosa. A new syndrome. Arch Dermatol 1966; 93 (3): 296–304.

    Article  CAS  PubMed  Google Scholar 

  33. Kulalı F, Bas AY, Kale Y, Celik IH, Demirel N, Apaydın S et al. Aplasia cutis congenita: Bart's syndrome. Case Rep Dermatol Med 2015; 2015: 549825.

    PubMed  PubMed Central  Google Scholar 

  34. Rajpal A, Mishra R, Hajirnis K, Shah M, Nagpur N . Bart's syndrome. Indian J Dermatol 2008; 53 (2): 88–90.

    Article  PubMed  PubMed Central  Google Scholar 

  35. Bart BJ, Lussky RC . Bart syndrome with associated anomalies. Am J Perinatol 2005; 22 (7): 365–369.

    Article  PubMed  Google Scholar 

  36. Christiano AM, Bart BJ, Epstein EH, Uitto J . Genetic basis of Bart's syndrome: a glycine substitution mutation in the type VII collagen gene. J Invest Dermatol 1996; 106 (6): 1340–1342.

    Article  CAS  PubMed  Google Scholar 

  37. 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): 901–906.

    Article  CAS  PubMed  Google Scholar 

  38. al-Gazali LI, Mueller RF, Caine A, Antoniou A, McCartney A, Fitchett M et al. Two 46,XX,t(X;Y) females with linear skin defects and congenital microphthalmia: a new syndrome at Xp22.3. J Med Genet 1990; 27 (1): 59–63.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  39. Almeida HL, Rossi G, Abreu LB, Bergamaschi C, Silva AB, Kutsche K . Dermatoscopic aspects of the microphthalmia with linear skin defects (MLS) syndrome. An Bras Dermatol 2014; 89 (1): 180–181.

    Article  PubMed  Google Scholar 

  40. Enright F, Campbell P, Stallings RL, Hall K, Green AJ, Sweeney E et al. Xp22.3 microdeletion in a 19-year-old girl with clinical features of MLS syndrome. Pediatr Dermatol 2003; 20 (2): 153–157.

    Article  CAS  PubMed  Google Scholar 

  41. Mannino FL, Jones KL, Benirschke K . Congenital skin defects and fetus papyraceus. J Pediatr 1977; 91 (4): 559–564.

    Article  CAS  PubMed  Google Scholar 

  42. Cambiaghi S, Schiera A, Tasin L, Gelmetti C . Aplasia cutis congenita in surviving co-twins: four unrelated cases. Pediatr Dermatol 2001; 18 (6): 511–515.

    Article  CAS  PubMed  Google Scholar 

  43. Gembruch U, Viski S, Bagamery K, Berg C, Germer U . Twin reversed arterial perfusion sequence in twin-to-twin transfusion syndrome after the death of the donor co-twin in the second trimester. Ultrasound Obstet Gynecol 2001; 17 (2): 153–156.

    Article  CAS  PubMed  Google Scholar 

  44. Schaffer JV, Popiolek DA, Orlow SJ . Symmetric truncal aplasia cutis congenita following multifetal reduction of a sextuplet pregnancy. J Pediatr 2008; 153 (6): 860–863.

    Article  PubMed  Google Scholar 

  45. Okamura K, Murotsuki J, Tanigawara S, Uehara S, Yajima A . Funipuncture for evaluation of hematologic and coagulation indices in the surviving twin following co-twin's death. Obstet Gynecol 1994; 83 (6): 975–978.

    Article  CAS  PubMed  Google Scholar 

  46. Wagner DS, Klein RL, Robinson HB, Novak RW . Placental emboli from a fetus papyraceous. J Pediatr Surg 1990; 25 (5): 538–542.

    Article  CAS  PubMed  Google Scholar 

  47. Lewi L, Van Schoubroeck D, Gratacós E, Witters I, Timmerman D, Deprest J . Monochorionic diamniotic twins: complications and management options. Curr Opin Obstet Gynecol 2003; 15 (2): 177–194.

    Article  PubMed  Google Scholar 

  48. Louise L, Annabel M, Hubert L, Isabelle G, Gerard L . Fetus papyraceus: congenital pulmonary anomalies associated with congenital aplasia cutis on the surviving twin. Pediatr Dermatol 2013; 30 (6): e143–e145.

    Article  PubMed  Google Scholar 

  49. Kelly BJ, Samolitis NJ, Xie DL, Skidmore RA . Aplasia cutis congenita of the trunk with fetus papyraceus. Pediatr Dermatol 2002; 19 (4): 326–329.

    Article  PubMed  Google Scholar 

  50. Mazza JM, Klein JF, Christopher K, Silverberg NB . Aplasia cutis congenita in a setting of fetus papyraceus associated with small fetal abdominal circumference and high alpha-fetoprotein and amniotic acetylcholinesterase. Pediatr Dermatol 2015; 32 (1): 138–140.

    Article  PubMed  Google Scholar 

  51. Léauté-Labrèze C, Depaire-Duclos F, Sarlangue J, Fontan D, Sandler B, Maleville J et al. Congenital cutaneous defects as complications in surviving co-twins. Aplasia cutis congenita and neonatal volkmann ischemic contracture of the forearm. Arch Dermatol 1998; 134 (9): 1121–1124.

    Article  PubMed  Google Scholar 

  52. Taub PJ, Bradley JP, Setoguchi Y, Schimmenti L, Kawamoto HK . Typical facial clefting and constriction band anomalies: an unusual association in three unrelated patients. Am J Med Genet A 2003; 120A (2): 256–260.

    Article  PubMed  Google Scholar 

  53. Light TR, Ogden JA . Congenital constriction band syndrome. Pathophysiology and treatment. Yale J Biol Med 1993; 66 (3): 143–155.

    CAS  PubMed  PubMed Central  Google Scholar 

  54. Nagore E, Sánchez-Motilla JM, Febrer MI, Cremades B, Aleu M, Aliaga A . Radius hypoplasia, radial palsy, and aplasia cutis due to amniotic band syndrome. Pediatr Dermatol 1999; 16 (3): 217–219.

    Article  CAS  PubMed  Google Scholar 

  55. Cham PM, Drolet BA, Segura AD, Esterly NB . Congenital Volkmann ischaemic contracture: a case report and review. Br J Dermatol 2004; 150 (2): 357–363.

    Article  CAS  PubMed  Google Scholar 

  56. Agrawal H, Dokania G, Wu SY . Neonatal volkmann ischemic contracture: case report and review of literature. AJP Rep 2014; 4 (2): e77–e80.

    Article  PubMed  PubMed Central  Google Scholar 

  57. Tsur H, Yaffe B, Engel Y . Impending Volkmann's contracture in a newborn. Ann Plast Surg 1980; 5 (4): 317–320.

    Article  CAS  PubMed  Google Scholar 

  58. Neri I, Magnano M, Pini A, Ricci L, Patrizi A, Balestri R . Congenital Volkmann syndrome and aplasia cutis of the forearm: a challenging differential diagnosis. JAMA Dermatol 2014; 150 (9): 978–980.

    Article  PubMed  Google Scholar 

  59. Tempark T, Shwayder TA . Aplasia cutis congenita with fetus papyraceus: report and review of the literature. Int J Dermatol 2012; 51 (12): 1419–1426.

    Article  PubMed  Google Scholar 

  60. Tomer A, Harel A . Congenital absence of scalp skin and herpes simplex virus. A case report. Isr J Med Sci 1983; 19 (10): 950–951.

    CAS  PubMed  Google Scholar 

  61. Bailie FB . Aplasia cutis congenita of neck and shoulder requiring a skin graft: a case report. Br J Plast Surg 1983; 36 (1): 72–74.

    Article  CAS  PubMed  Google Scholar 

  62. Burkhead A, Poindexter G, Morrell DS . A case of extensive aplasia cutis congenita with underlying skull defect and central nervous system malformation: discussion of large skin defects, complications, treatment and outcome. J Perinatol 2009; 29 (8): 582–584.

    Article  CAS  PubMed  Google Scholar 

  63. O'Brien BM, Drake JE . Congenital defects of the skull and scalp. Br J Plast Surg 1960; 13: 102–109.

    Article  CAS  PubMed  Google Scholar 

  64. Fine JD, Johnson LB, Weiner M, Suchindran C . Cause-specific risks of childhood death in inherited epidermolysis bullosa. J Pediatr 2008; 152 (2): 276–280.

    Article  PubMed  Google Scholar 

  65. Sawamura D, Nakano H, Matsuzaki Y . Overview of epidermolysis bullosa. J Dermatol 2010; 37 (3): 214–219.

    Article  PubMed  Google Scholar 

  66. Fine JD, Eady RA, Bauer EA, Bauer JW, Bruckner-Tuderman L, Heagerty A et al. The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB. J Am Acad Dermatol 2008; 58 (6): 931–950.

    Article  PubMed  Google Scholar 

  67. Intong LR, Murrell DF . Inherited epidermolysis bullosa: new diagnostic criteria and classification. Clin Dermatol 2012; 30 (1): 70–77.

    Article  PubMed  Google Scholar 

  68. Lai-Cheong JE, Tanaka A, Hawche G, Emanuel P, Maari C, Taskesen M et al. Kindler syndrome: a focal adhesion genodermatosis. Br J Dermatol 2009; 160 (2): 233–242.

    Article  CAS  PubMed  Google Scholar 

  69. Yiasemides E, Walton J, Marr P, Villanueva EV, Murrell DF . A comparative study between transmission electron microscopy and immunofluorescence mapping in the diagnosis of epidermolysis bullosa. Am J Dermatopathol 2006; 28 (5): 387–394.

    Article  PubMed  Google Scholar 

  70. Mellerio JE . Molecular pathology of the cutaneous basement membrane zone. Clin Exp Dermatol 1999; 24 (1): 25–32v.

    Article  CAS  PubMed  Google Scholar 

  71. 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 (1): 159–165.

    Article  PubMed  Google Scholar 

  72. Mesrati H, Amouri M, Chaaben H, Masmoudi A, Boudaya S, Turki H . Aplasia cutis congenita: report of 22 cases. Int J Dermatol 2015; 54 (12): 1370–1375v.

    Article  PubMed  Google Scholar 

  73. Bui D, Ikeda C . Reconstruction of aplasia cutis congenita (group V) of the trunk in a newborn. Plast Reconstr Surg 2003; 111 (6): 2119–2120.

    PubMed  Google Scholar 

  74. Morrow D, Schelonka R, Krol A, Davies M, Kuang A . Type V aplasia cutis congenita: case report, review of the literature, and proposed treatment algorithm. Pediatr Dermatol 2013; 30 (6): e208–213v.

    Article  PubMed  Google Scholar 

  75. Santos de Oliveira R, Barros Jucá 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 (9): 1072–1079.

    Article  PubMed  Google Scholar 

  76. Starcevic M, Sepec MP, Zah V . A case of extensive aplasia cutis congenita: a conservative approach. Pediatr Dermatol 2010; 27 (5): 540–542.

    Article  PubMed  Google Scholar 

  77. 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 (2): 89–93v.

    PubMed  Google Scholar 

  78. 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 (5): 766e–774ev.

    Article  CAS  PubMed  Google Scholar 

  79. Liu Y, Qiu L, Fu Y, Tian X, Yuan X, Xiao J et al. Large defects in aplasia cutis congenita treated by large-sized thin split-thickness skin grafting: long-term follow-up of 18 patients. Int J Dermatol 2015; 54 (6): 710–714v.

    Article  PubMed  Google Scholar 

  80. Gencel E, Eser C, Tabakan I, Kesiktas E, Yavuz M . Outcomes of tissue expander application for scalp reconstruction in extensive aplasia cutis congenita. Aesthetic Plast Surg 2016; 40 (1): 114–119.

    Article  PubMed  Google Scholar 

  81. Harvey G, Solanki NS, Anderson PJ, Carney B, Snell BJ . Management of aplasia cutis congenita of the scalp. J Craniofac Surg 2012; 23 (6): 1662–1664.

    Article  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to S R Humphrey.

Ethics declarations

Competing interests

The authors declare no conflict of interest.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Humphrey, S., Hu, X., Adamson, K. et al. A practical approach to the evaluation and treatment of an infant with aplasia cutis congenita. J Perinatol 38, 110–117 (2018). https://doi.org/10.1038/jp.2017.142

Download citation

  • Received:

  • Revised:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1038/jp.2017.142

This article is cited by

Search

Quick links