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DOI: 10.1542/neo.13-5-e2852012;13;e285Neoreviews

Megha M. TollefsonAplasia Cutis Congenita

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Aplasia Cutis CongenitaMegha M. Tollefson, MD*

Author Disclosure

Dr Tollefson has

disclosed no financial

relationships relevant

to this article. This

commentary does not

contain a discussion of

an unapproved/

investigative use of

a commercial product/

device.

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.

AbstractAplasia 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 com-

monly affects the scalp as a solitary lesion. The type of lesion may be classified into one of

nine groups. Membranous types and those with a hair collar are at highest risk to beassociated with underlying neurodevelopmental abnormalities. In rare cases, associated ab-

normalities and syndromes may also be seen. Appropriate evaluation can be undertaken

depending on clinical signs and symptoms. Treatment is often conservative, but more ag-gressive 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.

DefinitionAplasia cutis congenita (ACC) is defined as the congenital absence of skin. It may occur

anywhere on the cutaneous surface but is most common on the scalp. ACC represents a het-

erogeneous group of disorders that may occur in isolation or in conjunction with various

syndromes. There is no single underlying cause.

EpidemiologyACC wasfirst described in 1767 on the extremities of a newborn infant. The first description of

scalp involvement was in 1826. Since then, hundreds of cases have been described in the world-wide 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)

Clinical PresentationApproximately 85% of all lesions of ACC occur on the scalp

(Fig 1a), whereas the remaining 15% occur on the trunk and

Abbreviations

ACC: aplasia cutis congenita

AOS: Adams-Oliver Syndrome

CNS: central nervous system

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

Article dermatology

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extremities. (1)(4)(6) Of those that involve the scalp,

70% to 75% are solitary lesions, 20% of affected patients

have two lesions, andw8% of patients have three lesions.

(7) Lesions on the scalp, particularly those that are soli-

tary, 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 fa-

milial forms of scalp ACC. (3) Nonmembranous ACC may

have a different pathogenesis than the other subtype, mem-

branous ACC. Membranous ACC is thought to result from

incomplete or faulty closure of ectodermal fusion lines, re-

sulting 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 bullousACC, can be associated with underlying neurodevelop-

mental abnormalities and may in fact be the forme fruste

or a mild form of a neural tube defect. (10) The presenceof a hair collar sign, or a ring of darker terminal hairs

surrounding the defectfirst described in 1989, is regarded

as specific 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 bet-

ter 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, of-

ten heal nicely with supportive wound care. (12)(13)(14)

Exceptions to this are patients with underlying disorderscausing the ACC, some associated syndromes, or the ex-

tremely rare cases of systemic ACC, which is completeabsence of skin, of which only two cases have been reported

worldwide, both of which died shortly after birth. (15)

Differential DiagnosisThe diagnosis of ACC at birth is usually fairly straight-

forward and primarily a clinical one. In the differential

diagnosis may be birth trauma, encephalocele or menin-

gocele, dermoid cyst, and herpes virus infection. Although

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

the hair whorl.

Figure 2. Large stellate defect of scalp ACC. Figure 3. Membranous scalp ACC with hair collar sign.

dermatology aplasia cutis congenita

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neonatal herpes presents with an ulcerated or eroded area

of skin, it is usually not present at birth. Focal dermal hy-

poplasia may also present similarly, but these patients

should have a unique pattern ofblaschkoid skin involve-

ment. When involving large areas or involving the trunk or

extremities, epidermolysis bullosa should be considered

and may be difficult to distinguish from isolated ACC. Ap-

propriate cultures, imaging, and biopsies can be helpful

when other diagnoses are being considered.

Associated AbnormalitiesMany associated abnormalities and syndromes have been

described in the context of ACC (Table 1). In 1986, Frieden

classified patients with ACC into nine different groups,

and this is a classification that is still commonly used to-

day. (4) These groups, as well as other associations not

included in these groups are reviewed below.

Group 1: Scalp ACC Without MultipleAnomalies

As described above, the scalp is the most common loca-

tion of involvement with ACC. It may occur in isolation

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

fistula, double cervix and uterus, omphalocele, polycys-

tic kidneys, and cutis marmorata telangiectatica conge-

nita. (4) Patients in this category most commonly have

sporadic ACC, but autosomal dominant inheritance has

also been reported, particularly in those with membra-

nous ACC.

Group 2: Scalp With Limb Anomalies (Adams-Oliver Syndrome)

Since the original description by Adams and Oliver in

1945, w100 cases of patients with Adams-Oliver Syn-

drome (AOS) have been reported. AOS consists of soli-

tary vertex scalp defects with limb abnormalities. Limb

anomalies typically manifest as distal limb reduction de-

fects, 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 lowerlimb reduction anomalies, and 59% will have upper ex-

tremity involvement. (5) In addition,w20% of patientswill 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, crypt-

orchidism, 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 in-

complete or complete lack of penetrance. (17) There

have also been cases of autosomal recessive inheritance.

(5) Gender distribution is equal. (18)

Group 3: Scalp ACC With Epidermal andSebaceous Nevi

Several cases of scalp ACC occurring along with epider-

mal or sebaceous nevi in close proximity to the ACC have

been reported. (4) Some of these patients have had find-

ings also seen in epidermal nevus syndrome, colobomas,

corneal opacities, seizures, and mental retardation. An ex-

tremely rare association of sebaceous nevus syndrome,

central nervous system (CNS) malformations, ACC, limbaldermoid, and pigmented nevus, termed with the

eponym SCALP, has recently been reported. (19)

Table 1. Conditions AssociatedWith ACC

Syndromes/genetic diseasesAOSJohanson-Blizzard syndromeSetleis syndromeFocal dermal hypoplasiaTrisomy 13Chromosome 4p-Epidermolysis bullosaEctodermal dysplasia46 XY gonadal dysgenesisOculo-cerebro-cutaneous syndrome

Epidermal nevus syndromeSCALP syndrome

MalformationsCNS: meningocele, spinal dysraphismCongenital heart defectsOmphaloceleTracheo-esophageal fistulaCleft lip and palate

TeratogensHerpes simplex virusCongenital varicella zoster virus infectionMethimazole

OtherAmniotic band sequence





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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 EmbryologicMalformations

This category encompasses ACC that overlies any embry-

ological malformation. When located on the scalp, it in-

cludes ACC associated with neural tube defects and other

CNS anomalies. (4) When located in the area of the lum-

bosacral 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 anom-

alies such as gastroschisis, omphalocele, ileal atresia, andbiliary atresia. (21)(22) The inheritance for this group

varies as it depends on the underlying condition.

Group 5: ACC With Associated Fetus PapyraceusJust over 40 cases of fetus papyraceus have been reported

in the literature to date. (23) Fetus papyraceus is charac-

terized 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 fibrous bands and contractures may be present.Ninety to 95% of affected infants were the result of

a monochorionic twin gestation where one of the fetusesdied during the first 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

first trimester. (13) It is extremely rare in singleton preg-

nancies. 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 preg-nancies. 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 pla-

centa after birth may reveal abnormalities. (24) This group

has sporadic occurrence.

Group 6: ACC Associated With EpidermolysisBullosa

In 1966, Bart syndrome was described as an inherited dis-order characterized by ACC, epidermolysis bullosa, and

nail deformities. (25) It is now known that it is not

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 ex-

tremities, possibly due to mechanical trauma in utero

from kicking. (4) The inheritance for this group depends

on the specific subtype of epidermolysis bullosa.

Group 7: ACC of the Extremities WithoutEpidermolysis 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 au-

tosomal dominant or autosomal recessive. (4)

Group 8: ACC Caused by TeratogensSeveral cases of ACC have been associated with specific

teratogens. Intrauterine infection with herpes simplex vi-

rus 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 molec-

ular weight heparin. (27)(28)(29)(30) It is important

to note, however, that the patient who was exposed topropylthiouracil also had intrauterine demise of a mono-

chorionic cotwin at 14 weeks gestation with resulting stel-late ACC of the rightflank, thus making it possible that

this was a fetus papyraceus variant rather than a conse-

quence of the medication. When caused by an infectious

etiology, ACC may occur anywhere on the cutaneous sur-

face, whereas it is more likely to present on the scalp in

cases of medication exposure, such as with methimazole.

Group 9: ACC Associated With Syndromesof 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 tri-somy 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-cerebro-

cutaneous syndrome, and 46 XY gonadal dysgenesis. (4)

(18) Amniotic band syndrome associated with ACC and

limb hypoplasia has also been seen. (32) Inheritance is de-

pendent on the underlying syndrome.

OtherSeveral cases of ACC with cardiovascular malformations

have been reported. Four of these cases have been





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patients with coarctation of the aorta. (33) Some authors

suggest that these cases may possibly represent incom-

plete AOS.

CausesACC 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 appear-

ance 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 orstellate in shape. Impaired vascular development or vas-

cular 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 de-

velopment of AOS. In AOS, scalp defects of ACC are

usually irregular and stellate, and are never of the mem-

branous quality. Cardiac defects are also commonly seen.

It has been proposed that there may be genetic abnor-

malities 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.

Evaluation

ACC is a diagnosis that is usually made at birth. In onecase, the lesion was detected on 20-week ultrasound; how-

ever, definitive diagnosis could not be made until birth. (9)

When ACC is noted at birth, the placenta should be ex-

amined 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 subcu-

taneous tissues can be absent in deeper lesions. (7)

The other focus of the work-up should be for under-

lying or associated conditions depending on the presen-

tation of the ACC. Solitary scalp ACC that is off the

midline and of small size usually does not require any fur-

ther 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, appropri-

ate imaging looking for underlying neural tube defects

should be performed. Patients with suspected AOS may

require extremity imaging and should have an echocardio-

gram. Those with suspected epidermolysis bullosa or with

ACC isolated to one extremity should have appropriate

skin biopsies performed. All other work-up should be cus-tomized based on symptoms and clinical exam findings.

TreatmentTreatment for cases of ACC is usually conservative. Often

only local wound care with topical antibiotics and ban-

dages 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 le-

sion may heal with a hypertrophic scar (Fig 4). When le-

sions are a bit larger on the scalp, such as >3 to 4 cm in

size, treatment may be controversial. Some authors con-

tinue to recommend conservative wound care, however,others advocate for more aggressive therapy such as sur-

gical 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 de-

fects, hemorrhage from the sagittal sinus, or infectious

complications. (4)

Figure 4. Scalp ACC healed with a hypertrophic scar.





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Large scalp lesions are at higher risk for several com-

plications including hemorrhage, thrombosis, and infec-

tion. 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 significant hemorrhage. (16) Large lesions

are also at higher risk for infection, which can quickly

travel intracranially. Patients with large areas of involve-

ment by scalp ACC should have prompt neurosurgery

and plastic surgery consults for consideration of surgical

management with skin grafts and flaps, 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 papy-raceus 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.

SummaryACC 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 mustbe taken for large scalp defects because these may carry

a high risk for complication and subsequent mortality.

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American Board of Pediatrics Neonatal-Perinatal

Content Specifications

Recognize the physical findings 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, absentclavicles, 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.





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21. Al-Sawan RM, Soni AL, Al-Kobrosly AM, et al. Truncal aplasiacutis congenita associated with ileal atresia and mesenteric defect.

Pediatr Dermatol. 1999;16(5):40840922. Lane W, Zanol K. Duodenal atresia, biliary atresia, and in-testinal infarct in truncal aplasia cutis congenita. Pediatr Dermatol.

2000;17(4):290292

23. Schaffer JV, Popiolek DA, Orlow SJ. Symmetric truncal aplasiacutis congenita following multifetal reduction of a sextuplet preg-nancy. J Pediatr. 2008;153(6):860863

24. Cambiaghi S, Schiera A, Tasin L, Gelmetti C. Aplasia cutiscongenita in surviving co-twins: four unrelated cases. Pediatr

Dermatol. 2001;18(6):511515

25. Bart BJ. Epidermolysis bullosa and congenital localized absenceof skin. Arch Dermatol. 1970;101(1):7881

26. Bigliardi PL, Braschler C, Kuhn P, Sigrist J, Buechner S, Rufli 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 congenitaafter methimazole exposure in utero successfully treated with basic

fibroblast growth factor. Int J Dermatol. 2010;49(3):334335

28. Karg E, Bereg E, Gaspar L, Katona M, Turi S. Aplasia cutiscongenita after methimazole exposure in utero. Pediatr Dermatol.

2004;21(4):491494

29. Lllgen RM, Calza AM, Schwitzgebel VM, Pfister RE.Aplasia cutis congenita in surviving co-twin after propylt hiourac il

exposure in utero. J Pediatr Endocrinol Metab. 2011;24(34):

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30. Sharif S, Hay CR, Clayton-Smith J. Aplasia cutis congenita andlow molecular weight heparin. BJOG. 2005;112(2):256258

31. Abuelo D, Feingold M. Scalp defects in trisomy 13. ClinPediatr (Phila). 1969;8(7):416417

32. Nagore E, Snchez-Motilla JM, Febrer MI, Cremades B,Aleu M, Aliaga A. Ra dius hypoplas ia, r adial palsy, and a plasia cutis

due to amniotic band syndrome. Pediatr Dermatol. 1999;16(3):

217219

33. Lataifeh IM, Khriesat WM, Baqain EB, Al Qarqaz FA, AbuekteishF. Aplasia cutis congenita associated with coarctation of the aorta:

case report and review of the literature. Int J Dermatol. 2009;48(11):

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34. Kantor J, Yan AC, Hivnor CM, Honig PJ, Kirschner R.Extensive aplasia cutis congenita and the risk of sagittal sinusthrombosis. Arch Dermatol. 2005;141(5):554556

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37. Benjamin LT, Trowers AB, Schachner LA. Giant aplasia cutiscongenita without associated anomalies. Pediatr Dermatol. 2004;21(2):150153

38. Starcevic M, Sepec MP, Zah V. A case of extensive aplasia cutiscongenita: a conservative approach. Pediatr Dermatol. 2010;27(5):

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NeoReviews QuizNew minimum performance level requirementsPer the 2010 revision of the American Medical Association (AMA) Physicians Recognition Award (PRA) and creditsystem, a minimum performance level must be established on enduring material and journal-based CME activities thatare certified for AMA PRA Category 1 CreditTM. In order to successfully complete 2012 NeoReviews articles for AMAPRA Category 1 CreditTM, learners must demonstrate a minimum performance level of 60% or higher on thisassessment, 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 questionsare answered correctly. If you score less than 60% on the assessment, you will be given additional opportunities toanswer 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 thescalp. A ring of dark hairs surrounds the lesion (hair collar sign). Of the following, the skin lesionin this infant is most likely to be associated with:

A. Birth traumaB. Dermoid cystC. Epidermolysis bullosaD. Herpes virus infectionE. Neural tube defect





9/10

2. A monochorionic twin gestation is complicated by fetal papyraceus. The surviving twin exhibits extensiveand symmetric stellate areas of truncal cutis aplasia. Of the following, the most likely cause of the truncalcutis aplasia in the surviving twin is a(n):A. Amniotic bandB. Genetic abnormalityC. Inborn error of metabolismD. Intrauterine infectionE. Vascular disruption

3. A neonatologist identifies a solitary scalp lesion of a newborn girl that is consistent with aplasia cutiscongenita. The newborn also has dsymorphic facial features and the neonatologist is concerned abouta genetic syndrome. Of the following, the syndrome most commonly associated with aplasia cutis is:A. Trisomy 8B. Trisomy 13C. Trisomy 18D. Trisomy 21E. Turner

4. A mother is concerned about an area on her babys scalp. A neonatologist diagnoses the infant withaplasia cutis congenita of the scalp. Based on the appearance of the lesion, the neonatologistsuggests conservative management. Of the following, the characteristic that is most consistent witha benign, isolated lesion is a(n):A. Midline locationB. Pustular componentC. Shiny, membrane-like coveringD. Small size (


10/10

DOI: 10.1542/neo.13-5-e2852012;13;e285Neoreviews

Megha M. TollefsonAplasia Cutis Congenita

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