You are on page 1of 10

Aplasia Cutis Congenita Megha M. Tollefson Neoreviews 2012;13;e285 DOI: 10.1542/neo.

13-5-e285

The online version of this article, along with updated information and services, is located on the World Wide Web at: http://neoreviews.aappublications.org/content/13/5/e285

Neoreviews is the official journal of the American Academy of Pediatrics. A monthly publication, it has been published continuously since . Neoreviews is owned, published, and trademarked by the American Academy of Pediatrics, 141 Northwest Point Boulevard, Elk Grove Village, Illinois, 60007. Copyright 2012 by the American Academy of Pediatrics. All rights reserved. Print ISSN: .

Downloaded from http://neoreviews.aappublications.org/ at Health Internetwork on January 27, 2013

Article

dermatology

Aplasia Cutis Congenita


Megha M. Tollefson, MD*

Educational Gaps
1. Occuring in approximately 3 cases per 10,000 live births, aplasia cutis congenita (ACC) is rare but can signal underlying neurodevelopmental abnormalities that require active, customized, ongoing treatment. 2. Large ACC scalp defects, especially those with underlying bony defect, carry a high risk for complications, such as hemorrhage, thrombosis, and infection, and a 20-30% risk of mortality.

Author Disclosure Dr Tollefson has disclosed no nancial relationships relevant to this article. This commentary does not contain a discussion of an unapproved/ investigative use of a commercial product/ device.

Abstract
Aplasia cutis congenita (ACC) is a rare disorder that is estimated to affect approximately three newborns in every 10,000 live births. It is usually detected at birth and most commonly affects the scalp as a solitary lesion. The type of lesion may be classied into one of nine groups. Membranous types and those with a hair collar are at highest risk to be associated with underlying neurodevelopmental abnormalities. In rare cases, associated abnormalities and syndromes may also be seen. Appropriate evaluation can be undertaken depending on clinical signs and symptoms. Treatment is often conservative, but more aggressive treatment may be indicated for some larger scalp lesions.

Objectives

After completing this article, readers should be able to:

1. Recognize the different potential presentations of aplasia cutis congenita (ACC). 2. Know the abnormalities and syndromes that may be associated with ACC. 3. Determine which lesions of ACC require further evaluation and what evaluation should be undertaken. 4. Recognize situations in which active treatment of ACC should be considered.

Denition
Aplasia cutis congenita (ACC) is dened as the congenital absence of skin. It may occur anywhere on the cutaneous surface but is most common on the scalp. ACC represents a heterogeneous group of disorders that may occur in isolation or in conjunction with various syndromes. There is no single underlying cause.

Epidemiology
ACC was rst described in 1767 on the extremities of a newborn infant. The rst description of scalp involvement was in 1826. Since then, hundreds of cases have been described in the worldwide literature. Early estimates of the incidence were one to three cases per 10,000 live births. (1) A more recent population-based study revealed the incidence to be 2.8 cases per 10,000 live births. (2) There is no racial or gender preference. Most cases are sporadic, but familial cases have been reported with both autosomal dominant and autosomal recessive transmission. (1)(3)(4)(5)

Abbreviations

ACC: aplasia cutis congenita AOS: Adams-Oliver Syndrome CNS: central nervous system

Clinical Presentation
Approximately 85% of all lesions of ACC occur on the scalp (Fig 1a), whereas the remaining 15% occur on the trunk and

*Departments of Dermatology and Pediatric and Adolescent Medicine, Mayo Clinic, Rochester, MN.

NeoReviews Vol.13 No.5 May 2012 e285

Downloaded from http://neoreviews.aappublications.org/ at Health Internetwork on January 27, 2013

dermatology aplasia cutis congenita

Figure 1. A. Solitary scalp ACC. B. Scalp ACC with proximity to the hair whorl.

extremities. (1)(4)(6) Of those that involve the scalp, 70% to 75% are solitary lesions, 20% of affected patients have two lesions, and w8% of patients have three lesions. (7) Lesions on the scalp, particularly those that are solitary, are usually close in proximity to the hair whorl (Fig 1b). There may be variation in size. Most range in size from 0.5 to 2 cm, though some may measure 10 cm or larger. (4) Larger defects of the scalp are more likely to have underlying abnormalities of the skull, dura, and meninges, and thus are at higher risk for complications (Fig 2).

Lesions of ACC may appear ulcerated, eroded, or scarred at birth. On the scalp, two main subtypes have been described. Nonmembranous, or irregular ACC, consists of large, irregular, stellate defects that tend to heal with a scar. This type may be more common in the familial forms of scalp ACC. (3) Nonmembranous ACC may have a different pathogenesis than the other subtype, membranous ACC. Membranous ACC is thought to result from incomplete or faulty closure of ectodermal fusion lines, resulting in round or oval areas of sharply demarcated absence of skin with an atrophic, shiny, membranelike covering. (8) (9) This rare form, also sometimes referred to as bullous ACC, can be associated with underlying neurodevelopmental abnormalities and may in fact be the forme fruste or a mild form of a neural tube defect. (10) The presence of a hair collar sign, or a ring of darker terminal hairs surrounding the defect rst described in 1989, is regarded as specic for defects of neural tube closure (Fig 3). (11) Defects involving the trunk and extremities are often larger than those on the scalp, but they usually have a better prognosis and tend to heal faster. Even patients with fetus papyraceus, which is characterized by bilateral large stellate defects of truncal and sometimes extremity skin, often heal nicely with supportive wound care. (12)(13)(14) Exceptions to this are patients with underlying disorders causing the ACC, some associated syndromes, or the extremely rare cases of systemic ACC, which is complete absence of skin, of which only two cases have been reported worldwide, both of which died shortly after birth. (15)

Differential Diagnosis
The diagnosis of ACC at birth is usually fairly straightforward and primarily a clinical one. In the differential diagnosis may be birth trauma, encephalocele or meningocele, dermoid cyst, and herpes virus infection. Although

Figure 2. Large stellate defect of scalp ACC.


e286 NeoReviews Vol.13 No.5 May 2012

Figure 3. Membranous scalp ACC with hair collar sign.

Downloaded from http://neoreviews.aappublications.org/ at Health Internetwork on January 27, 2013

dermatology aplasia cutis congenita

neonatal herpes presents with an ulcerated or eroded area of skin, it is usually not present at birth. Focal dermal hypoplasia may also present similarly, but these patients should have a unique pattern of blaschkoid skin involvement. When involving large areas or involving the trunk or extremities, epidermolysis bullosa should be considered and may be difcult to distinguish from isolated ACC. Appropriate cultures, imaging, and biopsies can be helpful when other diagnoses are being considered.

Associated Abnormalities
Many associated abnormalities and syndromes have been described in the context of ACC (Table 1). In 1986, Frieden classied patients with ACC into nine different groups, and this is a classication that is still commonly used today. (4) These groups, as well as other associations not included in these groups are reviewed below.

or may occur with underlying defects. Fifteen to 30% of cases of scalp ACC are associated with underlying bony defects. (4)(16) This category does not include cases of ACC associated with multiple anomalies, although patients with very rare isolated anomalies are included in this group. Isolated anomalies that have been reported with scalp ACC include cleft lip and palate, tracheoesophageal stula, double cervix and uterus, omphalocele, polycystic kidneys, and cutis marmorata telangiectatica congenita. (4) Patients in this category most commonly have sporadic ACC, but autosomal dominant inheritance has also been reported, particularly in those with membranous ACC.

Group 2: Scalp With Limb Anomalies (AdamsOliver Syndrome)


Since the original description by Adams and Oliver in 1945, w100 cases of patients with Adams-Oliver Syndrome (AOS) have been reported. AOS consists of solitary vertex scalp defects with limb abnormalities. Limb anomalies typically manifest as distal limb reduction defects, but syndactyly, ectrodactyly, and clubfoot may also be seen. (4) Scalp defects are more likely to be larger in patients with AOS than in the patient with isolated scalp ACC. (4) Seventy-eight percent of patients have lower limb reduction anomalies, and 59% will have upper extremity involvement. (5) In addition, w20% of patients will have cutis marmorata telangiectatica congenita, and 20% will have congenital cardiac defects. (17) Many other associated abnormalities have been reported, although these are quite rare; these include neurologic abnormalities, cryptorchidism, wooly hair, and hemangiomas. (17) Diagnostic criteria based upon the more common features have been proposed for this syndrome. Cases of AOS are usually transmitted in an autosomal dominant pattern, although there have been cases of incomplete or complete lack of penetrance. (17) There have also been cases of autosomal recessive inheritance. (5) Gender distribution is equal. (18)

Group 1: Scalp ACC Without Multiple Anomalies


As described above, the scalp is the most common location of involvement with ACC. It may occur in isolation

Table 1.

Conditions Associated With ACC

Syndromes/genetic diseases AOS Johanson-Blizzard syndrome Setleis syndrome Focal dermal hypoplasia Trisomy 13 Chromosome 4pEpidermolysis bullosa Ectodermal dysplasia 46 XY gonadal dysgenesis Oculo-cerebro-cutaneous syndrome Epidermal nevus syndrome SCALP syndrome Malformations CNS: meningocele, spinal dysraphism Congenital heart defects Omphalocele Tracheo-esophageal stula Cleft lip and palate Teratogens Herpes simplex virus Congenital varicella zoster virus infection Methimazole Other Amniotic band sequence

Group 3: Scalp ACC With Epidermal and Sebaceous Nevi


Several cases of scalp ACC occurring along with epidermal or sebaceous nevi in close proximity to the ACC have been reported. (4) Some of these patients have had ndings also seen in epidermal nevus syndrome, colobomas, corneal opacities, seizures, and mental retardation. An extremely rare association of sebaceous nevus syndrome, central nervous system (CNS) malformations, ACC, limbal dermoid, and pigmented nevus, termed with the eponym SCALP, has recently been reported. (19)
NeoReviews Vol.13 No.5 May 2012 e287

Downloaded from http://neoreviews.aappublications.org/ at Health Internetwork on January 27, 2013

dermatology aplasia cutis congenita

These cases in group 3 are all sporadic in inheritance and are felt to possibly resemble twin spotting or the phenomenon where a heterozygous cell can give rise to two different homozygous cells.

Group 4: ACC Overlying Embryologic Malformations


This category encompasses ACC that overlies any embryological malformation. When located on the scalp, it includes ACC associated with neural tube defects and other CNS anomalies. (4) When located in the area of the lumbosacral spine, it has been associated with occult spinal dysraphism. (20) It can also occur other places on the body and be associated with other developmental anomalies such as gastroschisis, omphalocele, ileal atresia, and biliary atresia. (21)(22) The inheritance for this group varies as it depends on the underlying condition.

a separate syndrome but rather a clinical manifestation of epidermolysis bullosa where affected patients are born with congenital absence of skin. Several different forms of epidermolysis bullosa have been described with ACC. The ACC is most commonly present on the lower extremities, possibly due to mechanical trauma in utero from kicking. (4) The inheritance for this group depends on the specic subtype of epidermolysis bullosa.

Group 7: ACC of the Extremities Without Epidermolysis Bullosa


ACC may occur on the extremities without the presence of underlying epidermolysis bullosa. (4)(26) Familial cases of this have been seen and inheritance may be autosomal dominant or autosomal recessive. (4)

Group 8: ACC Caused by Teratogens


Several cases of ACC have been associated with specic teratogens. Intrauterine infection with herpes simplex virus or varicella have been described to cause ACC. (4) Several medications have also been associated with the development of ACC, including methimazole most often, but also possibly propylthiouracil, and low molecular weight heparin. (27)(28)(29)(30) It is important to note, however, that the patient who was exposed to propylthiouracil also had intrauterine demise of a monochorionic cotwin at 14 weeks gestation with resulting stellate ACC of the right ank, thus making it possible that this was a fetus papyraceus variant rather than a consequence of the medication. When caused by an infectious etiology, ACC may occur anywhere on the cutaneous surface, whereas it is more likely to present on the scalp in cases of medication exposure, such as with methimazole.

Group 5: ACC With Associated Fetus Papyraceus


Just over 40 cases of fetus papyraceus have been reported in the literature to date. (23) Fetus papyraceus is characterized by extensive and symmetric stellate areas of ACC. This most commonly affects the trunk with characteristic periumbilical sparing but may also involve the extremities where brous bands and contractures may be present. Ninety to 95% of affected infants were the result of a monochorionic twin gestation where one of the fetuses died during the rst trimester. (23) This was more likely to be the case in patients where there was predominant truncal involvement with ACC, whereas patients with primarily extratruncal fetus papyraceus were more likely to be associated with intrauterine fetal demise after the rst trimester. (13) It is extremely rare in singleton pregnancies. Fetus papyraceus has also been reported with fetal reduction in multifetal pregnancies. (23) With increased use of fertility treatments, it is likely that we may see a higher incidence of fetus papyraceus in the future. Placental vascular anastomoses are thought to be the cause behind fetus papyraceus in multiple-gestation pregnancies. When one fetus dies in utero, this results in acute hypovolemia and ischemic infarctions in the surviving twin, thus leading to ischemia in the watershed areas of the skin and resulting ACC. Examination of the placenta after birth may reveal abnormalities. (24) This group has sporadic occurrence.

Group 9: ACC Associated With Syndromes of Malformation


ACC has been reported in association with a number of syndromes and ectodermal dysplasias. One of the most commonly associated is trisomy 13. Patients with trisomy 13 have a 35% to 50% rate of ACC of the scalp. (31) Also associated are the 4p deletion syndrome, Setleis syndrome, Johanson-Blizzard syndrome, focal dermal hypoplasia, several ectodermal dysplasias, oculo-cerebrocutaneous syndrome, and 46 XY gonadal dysgenesis. (4) (18) Amniotic band syndrome associated with ACC and limb hypoplasia has also been seen. (32) Inheritance is dependent on the underlying syndrome.

Group 6: ACC Associated With Epidermolysis Bullosa


In 1966, Bart syndrome was described as an inherited disorder characterized by ACC, epidermolysis bullosa, and nail deformities. (25) It is now known that it is not
e288 NeoReviews Vol.13 No.5 May 2012

Other
Several cases of ACC with cardiovascular malformations have been reported. Four of these cases have been

Downloaded from http://neoreviews.aappublications.org/ at Health Internetwork on January 27, 2013

dermatology aplasia cutis congenita

patients with coarctation of the aorta. (33) Some authors suggest that these cases may possibly represent incomplete AOS.

Causes
ACC is widely recognized to be a heterogeneous group of disorders with several different theories on the cause, depending on the type, location, and presentation. A leading theory is that membranous ACC is the result of failure to close the neural tube along ectodermal fusion lines. (10) This is supported by the usual clinical appearance of the lesions being round or oval, having regular borders, and location close to the midline. On the other hand, familial forms of scalp ACC are often irregular or stellate in shape. Impaired vascular development or vascular insult or possibly tension-induced skin disruption may be the cause behind this variant of ACC. (3) Vascular abnormalities are thought to play a role in several variants of ACC. In fetus papyraceus, as discussed above, ACC is likely to result from ischemic and/or thrombotic events after the demise of a cotwin in utero. Vascular disruption is also a leading theory behind the development of AOS. In AOS, scalp defects of ACC are usually irregular and stellate, and are never of the membranous quality. Cardiac defects are also commonly seen. It has been proposed that there may be genetic abnormalities in the structure of small vessels of patients with AOS, thus leading to disruptions in watershed areas. (3) On the other hand, in utero varicella and herpesvirus infections, and certain medications such as methimazole, likely have teratogenic effects. Also, twin spotting has been proposed as a theory behind the coexistence of ACC with nevus sebaceous or epidermal nevi. (19) Thus, being able to differentiate a type and/or group of ACC may be helpful in determining a possible etiology.

The other focus of the work-up should be for underlying or associated conditions depending on the presentation of the ACC. Solitary scalp ACC that is off the midline and of small size usually does not require any further work-up. If infectious etiologies are considered, then appropriate work-up for intrauterine herpes or varicella zoster virus should be undertaken. In cases of scalp or lumbosacral ACC that is midline, those of membranous ACC, or in cases with the hair collar sign, appropriate imaging looking for underlying neural tube defects should be performed. Patients with suspected AOS may require extremity imaging and should have an echocardiogram. Those with suspected epidermolysis bullosa or with ACC isolated to one extremity should have appropriate skin biopsies performed. All other work-up should be customized based on symptoms and clinical exam ndings.

Treatment
Treatment for cases of ACC is usually conservative. Often only local wound care with topical antibiotics and bandages are necessary. Depending on the size of the lesion, the time to healing may be several months. Spontaneous underlying bony regrowth may also occur. Rarely, the lesion may heal with a hypertrophic scar (Fig 4). When lesions are a bit larger on the scalp, such as >3 to 4 cm in size, treatment may be controversial. Some authors continue to recommend conservative wound care, however, others advocate for more aggressive therapy such as surgical correction due to the risk of complications. The mortality rate for large scalp defects, especially those with underlying bony defect, can approach 20% to 30%. (34) Mortality may occur from congenital defects, hemorrhage from the sagittal sinus, or infectious complications. (4)

Evaluation
ACC is a diagnosis that is usually made at birth. In one case, the lesion was detected on 20-week ultrasound; however, denitive diagnosis could not be made until birth. (9) When ACC is noted at birth, the placenta should be examined for abnormalities, particularly in the case of fetus papyraceus. A careful family history should also be taken, looking for potential inherited cases and causes of ACC. Skin biopsy is not routinely recommended because it is primarily a clinical diagnosis. However, in complicated cases or cases in which the diagnosis is not clear, histology should reveal an absence of the epidermis, sweat glands, and hair follicles. All of the layers of the skin and subcutaneous tissues can be absent in deeper lesions. (7)

Figure 4. Scalp ACC healed with a hypertrophic scar.


NeoReviews Vol.13 No.5 May 2012 e289

Downloaded from http://neoreviews.aappublications.org/ at Health Internetwork on January 27, 2013

dermatology aplasia cutis congenita

Large scalp lesions are at higher risk for several complications including hemorrhage, thrombosis, and infection. When large lesions are present, eschar can form over the dura at the peripheral borders of the lesion. As the eschar dries, it can pull away from the dura, thus leading to tears and signicant hemorrhage. (16) Large lesions are also at higher risk for infection, which can quickly travel intracranially. Patients with large areas of involvement by scalp ACC should have prompt neurosurgery and plastic surgery consults for consideration of surgical management with skin grafts and aps, tissue expanders, and/or cranioplasty. (35)(36) However, it is important to note that even large scalp defects can heal well and without complication with conservative treatment of wound care only. (37)(38) Large wounds of fetus papyraceus may often be managed with conservative topical wound care also. Referral for genetic counseling may also be indicated depending on the underlying cause, if any.

2. Martinez-Regueira S, Vazquez-Lopez ME, Somoza-Rubio C,


Morales-Redondo R, Gonzalez-Gay MA. Aplasia cutis congenita in a dened population from northwest Spain. Pediatr Dermatol. 2006;23(6):528532 3. Baselga E, Torrelo A, Drolet BA, Zambrano A, Alomar A, Esterly NB. Familial nonmembranous aplasia cutis of the scalp. Pediatr Dermatol. 2005;22(3):213217 4. Frieden IJ. Aplasia cutis congenita: a clinical review and proposal for classication. J Am Acad Dermatol. 1986;14(4):646660 5. McGoey RR, Lacassie Y. Adams-Oliver syndrome in siblings with central nervous system ndings, epilepsy, and developmental delay: rening the features of a severe autosomal recessive variant. Am J Med Genet A. 2008;146A(4):488491 6. Demmel U. Clinical aspects of congenital skin defects. I. Congenital skin defects on the head of the newborn. Eur J Pediatr. 1975;121(1):2150 7. Blunt K, Quan V, Carr D, Paes BA. Aplasia cutis congenita: a clinical review and associated defects. Neonatal Netw. 1992;11 (7):1727 8. Colon-Fontanez F, Fallon Friedlander S, Newbury R, Eicheneld LF. Bullous aplasia cutis congenita. J Am Acad Dermatol. 2003;48 (suppl 5):S95S98 9. Jelin AC, Glenn OA, Strachowski L, Vargas JE. Membranous aplasia cutis congenita: a recognizable lesion on prenatal sonography. J Ultrasound Med. 2009;28(10):13931396 10. 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): 14271431 11. Commens C, Rogers M, Kan A. Heterotropic brain tissue presenting as bald cysts with a collar of hypertrophic hair. The hair collar sign. Arch Dermatol. 1989;125(9):12531256 12. Kelly BJ, Samolitis NJ, Xie DL, Skidmore RA. Aplasia cutis congenita of the trunk with fetus papyraceus. Pediatr Dermatol. 2002;19(4):326329 13. Klein RQ, Robinson DM, Lieber CD, Antaya RJ. Symmetric aplasia cutis congenita associated with fetus papyraceus: report of two cases. Pediatr Dermatol. 2011;28(4):467469 14. Verhelle NA, Heymans O, Deleuze JP, Fabre G, Vranckx JJ, Van den hof B. Abdominal aplasia cutis congenita: case report and review of the literature. J Pediatr Surg. 2004;39(2):237239 15. Sugiura T, Kouwaki M, Kiyosawa S, et al. A case of systemic aplasia cutis congenita: a newly recognized syndrome? Eur J Pediatr. 2008;167(4):409413 16. 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):582584 17. Snape KM, Ruddy D, Zenker M, et al. The spectra of clinical phenotypes in aplasia cutis congenita and terminal transverse limb defects. Am J Med Genet A. 2009;149A(8):18601881 18. Whitley CB, Gorlin RJ. Adams-Oliver syndrome revisited. Am J Med Genet. 1991;40(3):319326 19. Lam J, Dohil MA, Eicheneld 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):884888 20. Higginbottom MC, Jones KL, James HE, Bruce DA, Schut L. Aplasia cutis congenita: a cutaneous marker of occult spinal dysraphism. J Pediatr. 1980;96(4):687689

Summary
ACC is a rare heterogeneous group of disorders that may occur anywhere on the skin. It may be associated with a variety of underlying or associated conditions for which a high index of suspicion should be held. In those cases, appropriate imaging and evaluation should be undertaken depending on the type and size of abnormalities that are seen. Treatment is often conservative, but great care must be taken for large scalp defects because these may carry a high risk for complication and subsequent mortality.

American Board of Pediatrics Neonatal-Perinatal Content Specications


Recognize the physical ndings and chromosomal pattern in trisomy 13. Recognize the clinical features and know how to diagnose and manage congenital anomalies of the upper extremities, such as syndactyly, polydactyly, absent clavicles, absent radius, Sprengel deformity, limb reduction. Recognize the clinical features and know how to diagnose and manage congenital anomalies of the lower extremities, such as metatarsus adductus, talipes equinovarus, syndactyly, polydactyly, limb reduction. Know the diagnostic approach and genetic basis of heritable disorders of the skin, including ichthyoses, incontinentia pigmenti, cutis laxa, and cutis aplasia.

References
1. Sybert VP. Aplasia cutis congenita: a report of 12 new families and review of the literature. Pediatr Dermatol. 1985;3(1):114
e290 NeoReviews Vol.13 No.5 May 2012

Downloaded from http://neoreviews.aappublications.org/ at Health Internetwork on January 27, 2013

dermatology aplasia cutis congenita

21. Al-Sawan RM, Soni AL, Al-Kobrosly AM, et al. Truncal aplasia cutis congenita associated with ileal atresia and mesenteric defect. Pediatr Dermatol. 1999;16(5):408409 22. Lane W, Zanol K. Duodenal atresia, biliary atresia, and intestinal infarct in truncal aplasia cutis congenita. Pediatr Dermatol. 2000;17(4):290292 23. Schaffer JV, Popiolek DA, Orlow SJ. Symmetric truncal aplasia cutis congenita following multifetal reduction of a sextuplet pregnancy. J Pediatr. 2008;153(6):860863 24. Cambiaghi S, Schiera A, Tasin L, Gelmetti C. Aplasia cutis congenita in surviving co-twins: four unrelated cases. Pediatr Dermatol. 2001;18(6):511515 25. Bart BJ. Epidermolysis bullosa and congenital localized absence of skin. Arch Dermatol. 1970;101(1):7881 26. Bigliardi PL, Braschler C, Kuhn P, Sigrist J, Buechner S, Rui T. Unilateral aplasia cutis congenita on the leg. Pediatr Dermatol. 2004; 21(4):454457 27. Abe M, Syuto T, Yokoyama Y, Ishikawa O. Aplasia cutis congenita after methimazole exposure in utero successfully treated with basic broblast growth factor. Int J Dermatol. 2010;49(3):334335 28. Karg E, Bereg E, Gaspar L, Katona M, Turi S. Aplasia cutis congenita after methimazole exposure in utero. Pediatr Dermatol. 2004;21(4):491494 29. Lllgen RM, Calza AM, Schwitzgebel VM, Pster RE. Aplasia cutis congenita in surviving co-twin after propylthiouracil exposure in utero. J Pediatr Endocrinol Metab. 2011;24(34): 215218

30. Sharif S, Hay CR, Clayton-Smith J. Aplasia cutis congenita and low molecular weight heparin. BJOG. 2005;112(2):256258 31. Abuelo D, Feingold M. Scalp defects in trisomy 13. Clin Pediatr (Phila). 1969;8(7):416417 32. Nagore E, Snchez-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): 217219 33. Lataifeh IM, Khriesat WM, Baqain EB, Al Qarqaz FA, Abuekteish F. Aplasia cutis congenita associated with coarctation of the aorta: case report and review of the literature. Int J Dermatol. 2009;48(11): 12221224 34. Kantor J, Yan AC, Hivnor CM, Honig PJ, Kirschner R. Extensive aplasia cutis congenita and the risk of sagittal sinus thrombosis. Arch Dermatol. 2005;141(5):554556 35. Beekmans SJ, don Griot JP, Niessen FB, Mulder JW. Tissue expansion for correction of baldness in aplasia cutis congenita. Eur J Pediatr. 2009;168(5):541544 36. 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):159165 37. Benjamin LT, Trowers AB, Schachner LA. Giant aplasia cutis congenita without associated anomalies. Pediatr Dermatol. 2004; 21(2):150153 38. Starcevic M, Sepec MP, Zah V. A case of extensive aplasia cutis congenita: a conservative approach. Pediatr Dermatol. 2010;27(5): 540542

NeoReviews Quiz
New minimum performance level requirements
Per the 2010 revision of the American Medical Association (AMA) Physicians Recognition Award (PRA) and credit system, a minimum performance level must be established on enduring material and journal-based CME activities that are certied for AMA PRA Category 1 CreditTM. In order to successfully complete 2012 NeoReviews articles for AMA PRA Category 1 CreditTM, learners must demonstrate a minimum performance level of 60% or higher on this assessment, which measures achievement of the educational purpose and/or objectives of this activity. Starting with 2012 NeoReviews, AMA PRA Category 1 CreditTM can be claimed only if 60% or more of the questions are answered correctly. If you score less than 60% on the assessment, you will be given additional opportunities to answer questions until an overall 60% or greater score is achieved.

1. A term newborn has a sharply demarcated, oval-shaped lesion with a membrane-like covering on the scalp. A ring of dark hairs surrounds the lesion (hair collar sign). Of the following, the skin lesion in this infant is most likely to be associated with: A. Birth trauma B. Dermoid cyst C. Epidermolysis bullosa D. Herpes virus infection E. Neural tube defect

NeoReviews Vol.13 No.5 May 2012 e291

Downloaded from http://neoreviews.aappublications.org/ at Health Internetwork on January 27, 2013

dermatology aplasia cutis congenita

2. A monochorionic twin gestation is complicated by fetal papyraceus. The surviving twin exhibits extensive and symmetric stellate areas of truncal cutis aplasia. Of the following, the most likely cause of the truncal cutis aplasia in the surviving twin is a(n): A. Amniotic band B. Genetic abnormality C. Inborn error of metabolism D. Intrauterine infection E. Vascular disruption 3. A neonatologist identies a solitary scalp lesion of a newborn girl that is consistent with aplasia cutis congenita. The newborn also has dsymorphic facial features and the neonatologist is concerned about a genetic syndrome. Of the following, the syndrome most commonly associated with aplasia cutis is: A. Trisomy 8 B. Trisomy 13 C. Trisomy 18 D. Trisomy 21 E. Turner 4. A mother is concerned about an area on her babys scalp. A neonatologist diagnoses the infant with aplasia cutis congenita of the scalp. Based on the appearance of the lesion, the neonatologist suggests conservative management. Of the following, the characteristic that is most consistent with a benign, isolated lesion is a(n): A. Midline location B. Pustular component C. Shiny, membrane-like covering D. Small size (<2 cm) E. Surrounding ring of darker terminal hairs 5. An infant has a large aplasia cutis congenital scalp lesion that measures 5 cm in length. Because of a concern that this lesion may not heal with conservative management, the neonatologist consults a neurosurgeon and a plastic surgeon. Of the following, the most likely complication in a neonate with a large aplasia cutis congenital lesion is: A. Blistering B. Dehydration C. Formation of a hemangioma D. Hemorrhage E. Loss of hair adjacent to lesion

e292 NeoReviews Vol.13 No.5 May 2012

Downloaded from http://neoreviews.aappublications.org/ at Health Internetwork on January 27, 2013

Aplasia Cutis Congenita Megha M. Tollefson Neoreviews 2012;13;e285 DOI: 10.1542/neo.13-5-e285

Updated Information & Services References

including high resolution figures, can be found at: http://neoreviews.aappublications.org/content/13/5/e285 This article cites 38 articles, 2 of which you can access for free at: http://neoreviews.aappublications.org/content/13/5/e285#BIBL This article, along with others on similar topics, appears in the following collection(s): Fetus and Newborn Infant http://neoreviews.aappublications.org/cgi/collection/fetus_newb orn_infant Skin Disorders http://neoreviews.aappublications.org/cgi/collection/skin_disord ers Information about reproducing this article in parts (figures, tables) or in its entirety can be found online at: /site/misc/Permissions.xhtml Information about ordering reprints can be found online: /site/misc/reprints.xhtml

Subspecialty Collections

Permissions & Licensing

Reprints

Downloaded from http://neoreviews.aappublications.org/ at Health Internetwork on January 27, 2013

You might also like