Medscape is available in 5 Language Editions – Choose your Edition here.


Aplasia Cutis Congenita Treatment & Management

  • Author: Joy Wan, MD; Chief Editor: William D James, MD  more...
Updated: Mar 02, 2016

Medical Care

The decision to use medical, surgical, or both forms of therapy in aplasia cutis congenita (ACC) depends primarily on the size, depth, and location of the cutaneous defect and any therapy indicated for associated defects.[61, 62, 63, 64, 65, 66, 67, 68, 69, 70, 71]

Local therapy includes gentle cleansing and application of a bland ointment or topical antibiotic ointment to prevent desiccation of the defect.

Antibiotics are only indicated if overt signs of infection are noted.

Other treatment is rarely necessary because the erosions and ulcerations almost always heal spontaneously.

A variety of specialized dressing materials have been used.[72, 73]


Surgical Care

Surgical repair is not usually indicated in aplasia cutis congenita (ACC) if the defect is small. Recovery is uneventful, with gradual epithelialization and formation of a hairless, atrophic scar over several weeks. Small underlying bony defects usually close spontaneously during the first year of life.

Surgical repair of large or multiple scalp defects may require excision with primary closure, if feasible, or the use of tissue expanders and rotation of a flap to fill the defect. Occasionally, skin or bone grafting may be required.

Patients with large, full-thickness scalp defects may face a treatment dilemma: conservative versus surgical therapy of the defect. Complete osseous regeneration of a large skull defect associated with aplasia cutis congenita has been obtained with a conservative approach of skin care and topical antibiotics. No surgical treatment of bone or soft tissue reconstruction was necessary. On the other hand, aplasia cutis congenita of the scalp may be complicated by sagittal sinus hemorrhage or thrombosis, and primary closure with scalp flaps may prevent a potentially fatal outcome.

Truncal and limb defects, despite their large size, usually epithelialize and form atrophic scars, which can later be revised if necessary.

Patients should be evaluated for evidence of epidermolysis bullosa before a surgical endeavor is undertaken.



Genetic counseling should be considered if associated anomalies are noted. Consultations based on other findings are appropriate to evaluate these conditions.

Contributor Information and Disclosures

Joy Wan, MD Resident Physician, Department of Dermatology, Hospital of the University of Pennsylvania

Joy Wan, MD is a member of the following medical societies: Society for Pediatric Dermatology

Disclosure: Nothing to disclose.

Specialty Editor Board

Michael J Wells, MD, FAAD Associate Professor, Department of Dermatology, Texas Tech University Health Sciences Center, Paul L Foster School of Medicine

Michael J Wells, MD, FAAD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Medical Association, Texas Medical Association

Disclosure: Nothing to disclose.

Van Perry, MD Assistant Professor, Department of Medicine, Division of Dermatology, University of Texas School of Medicine at San Antonio

Van Perry, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

Chief Editor

William D James, MD Paul R Gross Professor of Dermatology, Vice-Chairman, Residency Program Director, Department of Dermatology, University of Pennsylvania School of Medicine

William D James, MD is a member of the following medical societies: American Academy of Dermatology, Society for Investigative Dermatology

Disclosure: Nothing to disclose.


Mark A Crowe, MD Assistant Clinical Instructor, Department of Medicine, Division of Dermatology, University of Washington School of Medicine

Mark A Crowe, MD is a member of the following medical societies: American Academy of Dermatology and North American Clinical Dermatologic Society

Disclosure: Nothing to disclose.

  1. Frieden IJ. Aplasia cutis congenita: a clinical review and proposal for classification. J Am Acad Dermatol. 1986 Apr. 14(4):646-60. [Medline].

  2. Caksen H, Kurtoglu S. Our experience with aplasia cutis congenita. J Dermatol. 2002 Jun. 29(6):376-9. [Medline].

  3. Moros Pena M, Labay Matias M, Valle Sanchez F, et al. [Aplasia cutis congenita in a newborn: etiopathogenic review and diagnostic approach]. An Esp Pediatr. 2000 May. 52(5):453-6. [Medline].

  4. Vinay K, Yadav S, Parsad D, Abhijit C. Aplasia cutis congenita in a Blaschkoid distribution: a lesser known variant. Int J Dermatol. 2016 Jan 11. [Medline].

  5. Hennekam RC. Aplasia cutis congenita reminiscent of the lines of Blaschko. Hum Genet. 1992 Dec. 90 (4):469-71. [Medline].

  6. Rokunohe D, Akasaka E, Rokunohe A, Kaneko T, Matsuzaki Y, Takiyoshi N, et al. Multiple aplasia cutis congenita lesions located along Blaschko's lines in a patient with tetralogy of Fallot-A. J Dermatol Case Rep. 2012 Jun 30. 6 (2):40-2. [Medline].

  7. 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 Dec. 131(12):1427-31. [Medline].

  8. Colon-Fontanez F, Fallon Friedlander S, Newbury R, Eichenfield LF. Bullous aplasia cutis congenita. J Am Acad Dermatol. 2003 May. 48(5 Suppl):S95-8. [Medline].

  9. Benjamin LT, Trowers AB, Schachner LA. Giant aplasia cutis congenita without associated anomalies. Pediatr Dermatol. 2004 Mar-Apr. 21(2):150-3. [Medline].

  10. Chitnis MR, Carachi R, Galea P. Familial aplasia cutis congenita. Eur J Pediatr Surg. 1996 Apr. 6(2):100-1. [Medline].

  11. Fagan LL, Harris PA, Coran AG, Cywes R. Sporadic aplasia cutis congenita. Pediatr Surg Int. 2002 Sep. 18(5-6):545-7. [Medline].

  12. Davidson AW, Hosalkar HS, Hill RA, Monsell F. Radial dysplasia with localized cutis aplasia congenita. J Pediatr Orthop B. 2003 Nov. 12(6):398-401. [Medline].

  13. 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 Jul-Aug. 52(4):234-8. [Medline].

  14. Bilginer B, Onal MB, Bahadir S, Akalan N. Aplasia cutis congenita of the scalp, skull and dura associated with Adams-Oliver syndrome. Turk Neurosurg. 2008 Apr. 18(2):191-3. [Medline].

  15. Dyall-Smith D, Ramsden A, Laurie S. Adams-Oliver syndrome: aplasia cutis congenita, terminal transverse limb defects and cutis marmorata telangiectatica congenita. Australas J Dermatol. 1994. 35(1):19-22. [Medline].

  16. Orstavik KH, Stromme P, Spetalen S, et al. Aplasia cutis congenita associated with limb, eye, and brain anomalies in sibs: a variant of the Adams-Oliver syndrome?. Am J Med Genet. 1995 Oct 23. 59(1):92-5. [Medline].

  17. Temtamy SA, Aglan MS, Ashour AM, Zaki MS. Adams-Oliver syndrome: further evidence of an autosomal recessive variant. Clin Dysmorphol. 2007 Jul. 16(3):141-9. [Medline].

  18. Meester JA, Southgate L, Stittrich AB, Venselaar H, Beekmans SJ, den Hollander N, et al. Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome. Am J Hum Genet. 2015 Sep 3. 97 (3):475-82. [Medline].

  19. Hassed SJ, Wiley GB, Wang S, Lee JY, Li S, Xu W, et al. RBPJ mutations identified in two families affected by Adams-Oliver syndrome. Am J Hum Genet. 2012 Aug 10. 91 (2):391-5. [Medline].

  20. Shaheen R, Aglan M, Keppler-Noreuil K, Faqeih E, Ansari S, Horton K, et al. Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome. Am J Hum Genet. 2013 Apr 4. 92 (4):598-604. [Medline].

  21. Shaheen R, Faqeih E, Sunker A, Morsy H, Al-Sheddi T, Shamseldin HE, et al. Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndrome. Am J Hum Genet. 2011 Aug 12. 89 (2):328-33. [Medline].

  22. Southgate L, Machado RD, Snape KM, Primeau M, Dafou D, Ruddy DM, et al. Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies. Am J Hum Genet. 2011 May 13. 88 (5):574-85. [Medline].

  23. Stittrich AB, Lehman A, Bodian DL, Ashworth J, Zong Z, Li H, et al. Mutations in NOTCH1 cause Adams-Oliver syndrome. Am J Hum Genet. 2014 Sep 4. 95 (3):275-84. [Medline].

  24. Narang T, Kanwar AJ, Dogra S. Adams-Oliver syndrome: a sporadic occurrence with minimal disease expression. Pediatr Dermatol. 2008 Jan-Feb. 25(1):115-6. [Medline].

  25. 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 May. 58(5):884-8. [Medline].

  26. Neri I, Savoia F, Giacomini F, Raone B, Aprile S, Patrizi A. Usefulness of dermatoscopy for the early diagnosis of sebaceous naevus and differentiation from aplasia cutis congenita. Clin Exp Dermatol. 2009 Jul. 34(5):e50-2. [Medline].

  27. Kantor J, Yan AC, Hivnor CM, Honig PJ, Kirschner R. Extensive aplasia cutis congenita and the risk of sagittal sinus thrombosis. Arch Dermatol. 2005 May. 141(5):554-6. [Medline].

  28. Kim CS, Tatum SA, Rodziewicz G. Scalp aplasia cutis congenita presenting with sagittal sinus hemorrhage. Arch Otolaryngol Head Neck Surg. 2001 Jan. 127(1):71-4. [Medline].

  29. Lane W, Zanol K. Duodenal atresia, biliary atresia, and intestinal infarct in truncal aplasia cutis congenita. Pediatr Dermatol. 2000 Jul-Aug. 17(4):290-2. [Medline].

  30. Ribuffo D, Costantini M, Gullo P, Houseman ND, Taylor GI. Aplasia cutis congenita of the scalp, the skull, and the dura. Scand J Plast Reconstr Surg Hand Surg. 2003. 37(3):176-80. [Medline].

  31. Gómez M, Chiesura V, Noguera-Morel L, Hernández-Martín A, García-Peñas JJ, Torrelo A. Extensive Intracranial Arteriovenous Malformation in a Child with Aplasia Cutis Congenita. Pediatr Dermatol. 2015 Jul-Aug. 32 (4):e163-4. [Medline].

  32. Kelly BJ, Samolitis NJ, Xie DL, Skidmore RA. Aplasia cutis congenita of the trunk with fetus papyraceus. Pediatr Dermatol. 2002 Jul-Aug. 19(4):326-9. [Medline].

  33. Maccario S, Fasolato V, Brunelli A, Martinelli S. Aplasia cutis congenita: an association with vanishing twin syndrome. Eur J Dermatol. 2009 Jul-Aug. 19(4):372-4. [Medline].

  34. Schaffer JV, Popiolek DA, Orlow SJ. Symmetric truncal aplasia cutis congenita following multifetal reduction of a sextuplet pregnancy. J Pediatr. 2008 Dec. 153(6):860-3. [Medline].

  35. Simman R. Reconstruction aplasia cutis congenita (group V) of the trunk in a newborn. Plast Reconstr Surg. 2004 Mar. 113(3):1103. [Medline].

  36. Visva-Lingam S, Jana A, Murray H, John E. Preterm premature rupture of membranes associated with aplasia cutis congenita and fetus papyraceous. Aust N Z J Obstet Gynaecol. 1996 Feb. 36(1):90-1. [Medline].

  37. Pieretti ML, Alcalá R, Boggio P, Noguera-Morel L, Porriño ML, Luna PC, et al. Aplasia Cutis Congenita Associated with Fetus Papyraceus. Pediatr Dermatol. 2015 Nov-Dec. 32 (6):858-61. [Medline].

  38. Chan RK, Liu AS, Rogers GF. Aplasia cutis congenita of the trunk associated with fetus papyraceous. J Craniofac Surg. 2012 Jul. 23(4):995-7. [Medline].

  39. McCarthy MA, Clarke T, Powell FC. Epidermolysis bullosa and aplasia cutis. Int J Dermatol. 1991 Jul. 30(7):481-4. [Medline].

  40. Bigliardi PL, Braschler C, Kuhn P, Sigrist J, Buechner S, Rufli T. Unilateral aplasia cutis congenita on the leg. Pediatr Dermatol. 2004 Jul-Aug. 21(4):454-7. [Medline].

  41. Benvenuto C, Kraemer CK, Kruse RL, Cestari TF. Familial epidermolysis bullosa with aplasia cutis congenita: Bart's syndrome?. Skinmed. 2003 Sep-Oct. 2(5):319-21. [Medline].

  42. Atik B, Tan O, Bayram I, Tuncer O, Kirimi E. Asymmetrical nonscalp aplasia cutis congenita: a case report. J Dermatol. 2004 Nov. 31(11):923-6. [Medline].

  43. Boente Mdel C, Frontini Mdel V, Acosta MI, Saleme C, Barrionuevo S, Asial R. Extensive symmetric truncal aplasia cutis congenita without fetus papyraceus or macroscopic evidence of placental abnormalities. Pediatr Dermatol. 1995 Sep. 12(3):228-30. [Medline].

  44. Morrell DS, Rubenstein DS, Briggaman RA, Fine JD, Pulkkinen L, Uitto J. Congenital pyloric atresia in a newborn with extensive aplasia cutis congenita and epidermolysis bullosa simplex. Br J Dermatol. 2000 Dec. 143(6):1342-3. [Medline].

  45. Izhar R, Ghani T. Aplasia cutis congenita and antithyroid drugs. J Pak Med Assoc. 2002 Nov. 52(11):526-8. [Medline].

  46. Karg E, Bereg E, Gaspar L, Katona M, Turi S. Aplasia cutis congenita after methimazole exposure in utero. Pediatr Dermatol. 2004 Jul-Aug. 21(4):491-4. [Medline].

  47. Mandel SJ, Brent GA, Larsen PR. Review of antithyroid drug use during pregnancy and report of a case of aplasia cutis. Thyroid. 1994 Spring. 4(1):129-33. [Medline].

  48. Nakamura S, Nishikawa T, Isaji M, et al. Aplasia cutis congenita and skull defects after exposure to methimazole in utero. Intern Med. 2005 Nov. 44(11):1202-3. [Medline].

  49. Evers ME, Steijlen PM, Hamel BC. Aplasia cutis congenita and associated disorders: an update. Clin Genet. 1995 Jun. 47(6):295-301. [Medline].

  50. Khan JY, Moss C, Roper HP. Aplasia cutis congenita with chromosome 12q abnormality. Arch Dis Child Fetal Neonatal Ed. 1995 May. 72(3):F205-6. [Medline]. [Full Text].

  51. Casanova D, Amar E, Bardot J, Magalon G. Aplasia cutis congenita. Report on 5 family cases involving the scalp. Eur J Pediatr Surg. 2001 Aug. 11(4):280-4. [Medline].

  52. Rodrigues RG. Aplasia cutis congenita, congenital heart lesions, and frontonasal cysts in four successive generations. Clin Genet. 2007 Jun. 71(6):558-60. [Medline].

  53. Teebi AS, Druker HA. Brachycephaly, cutis aplasia congenita, blue sclerae, hypertelorism, polydactyly, hypoplastic nipples, failure to thrive, and developmental delay: a distinct autosomal recessive syndrome?. Clin Dysmorphol. 2001 Jan. 10(1):69-70. [Medline].

  54. Sugiura T, Kouwaki M, Kiyosawa S, et al. A case of systemic aplasia cutis congenita: a newly recognized syndrome?. Eur J Pediatr. 2008 Apr. 167(4):409-13. [Medline].

  55. Marneros AG, Beck AE, Turner EH, McMillin MJ, Edwards MJ, Field M, et al. Mutations in KCTD1 cause scalp-ear-nipple syndrome. Am J Hum Genet. 2013 Apr 4. 92 (4):621-6. [Medline].

  56. Canham NL. Cutis aplasia as a feature of Kabuki syndrome. Clin Dysmorphol. 2006 Jul. 15(3):179-80. [Medline].

  57. Marneros AG. BMS1 is mutated in aplasia cutis congenita. PLoS Genet. 2013 Jun. 9(6):e1003573. [Medline]. [Full Text].

  58. Baselga E, Torrelo A, Drolet BA, Zambrano A, Alomar A, Esterly NB. Familial nonmembranous aplasia cutis of the scalp. Pediatr Dermatol. 2005 May-Jun. 22(3):213-7. [Medline].

  59. Gerber M, de Veciana M, Towers CV, Devore GR. Aplasia cutis congenita: a rare cause of elevated alpha-fetoprotein levels. Am J Obstet Gynecol. 1995 Mar. 172(3):1040-1. [Medline].

  60. Drolet BA, Clowry L Jr, McTigue MK, Esterly NB. The hair collar sign: marker for cranial dysraphism. Pediatrics. 1995 Aug. 96(2 Pt 1):309-13. [Medline].

  61. Browning JC. Aplasia cutis congenita: approach to evaluation and management. Dermatol Ther. 2013 Nov. 26(6):439-44. [Medline].

  62. Santos de Oliveira R, Barros Juca 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 Sep. 22(9):1072-9. [Medline].

  63. Gan YC, Steinbok P. Aplasia cutis congenita of the scalp: is there a better treatment strategy?. Childs Nerv Syst. 2006 Oct. 22(10):1216-7; author reply 1218-9. [Medline].

  64. Ahcan U, Janezic T. Management of aplasia cutis congenita in a non-scalp location. Br J Plast Surg. 2002 Sep. 55(6):530-2. [Medline].

  65. Bang RL, Ghoneim IE, Gang RK, Al Najjadah I. Treatment dilemma: conservative versus surgery in cutis aplasia congenita. Eur J Pediatr Surg. 2003 Apr. 13(2):125-9. [Medline].

  66. Donati V, Arena S, Capilli G, Carrera G, Ciralli F, Liberatore A. Reparation of a severe case of aplasia cutis congenita with engineered skin. Biol Neonate. 2001. 80(4):273-6. [Medline].

  67. Madsen JR, Robertson RL, Bartlett R. Surgical management of cutis aplasia with high-flow sinus pericranii. Pediatr Neurosurg. 1998 Feb. 28(2):79-83. [Medline].

  68. Rhee ST, Colville C, Buchman SR, Muraszko K. Complete osseous regeneration of a large skull defect in a patient with cutis aplasia: a conservative approach. J Craniofac Surg. 2002 Jul. 13(4):497-500. [Medline].

  69. Shivakumar SK, Dwarakanath S, Swaroop G, Venkataramana NK. Aplasia cutis congenita of the scalp: therapeutic modalities. Neurol India. 2006 Sep. 54(3):312-3. [Medline].

  70. Skoufi G, Lialios G, Plachouras N, Kutsogiannis D, Mperis A. Aplasia cutis congenita: Successful conservative treatment. Pediatr Int. 2006 Oct. 48(5):507-9. [Medline].

  71. 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. 2012 Aug 17. [Medline].

  72. Azad S, Falder S, Harrison J, Graham K. An adherent dressing for aplasia cutis congenita. Br J Plast Surg. 2005 Dec. 58(8):1159-61. [Medline].

  73. Lahiri A, Nishikawa H. A nonadherent dressing for aplasia cutis congenita. J Plast Reconstr Aesthet Surg. 2006. 59(7):781-2. [Medline].

Aplasia cutis congenita on the scalp (most common location) shortly after birth.
Triplet areas of aplasia cutis congenita are common in infants with trisomy 13.
This area of healed aplasia cutis congenita is located in an area of nevus flammeus. Note the collarette of coarser hair at the margin of the defect.
Extensive aplasia cutis congenita on the scalp, extending down to the skull.
Bilateral involvement of the lower extremities in aplasia cutis congenita associated with fetus papyraceous.
All material on this website is protected by copyright, Copyright © 1994-2016 by WebMD LLC. This website also contains material copyrighted by 3rd parties.