Abstract
Aplasia cutis congenita is a rare malformation characterized by localized congenitalabsence of the skin. It rarely occurs on the trunk and limbs, and can occur inisolation or as part of a heterogeneous group of syndromes. We report a case of a4-day-old boy with a 5.6-cm- diameter tumor, with a central crust, non-indurate andno inflammatory rim; localized on the scalp and a small, atrophic hairless scarappeared 6 months later (approximately 5cm in length) at the site of the previoustumor.
Keywords: Ectodermal dysplasia, Scalp, Skin diseases
INTRODUCTION
Aplasia cutis congenita (ACC) is a rare malformation characterized by localizedcongenital absence of the skin. It rarely occurs on the trunk and limbs, and can occurin isolation or as part of a heterogeneous group of syndromes.1It is a focal deficiency of cutaneous tissues of aryingseverity, ranging from an absence of skin through to full thickness defects involvingdeeper elements such as bone and dura. Lesions of the scalp can be associated withcomplications including infection, hemorrhage, thrombosis, and seizures. The lesion wasfirst described in 1767 by Cordon, though the first scalp aplasia cutis was describedlater, in 1826, by Campbell. Since then, hundreds of cases have been reported all overthe world. The incidence of aplasia cutis is 0.5/10,000 to 1/10,000 newborns; the ratiofemale/male newborns is around 7:5. 2
CASE REPORT
A 4 day-old boy was sent to us for an opinion on an ulcerated-crusted tumor on thevertex, observed 24 hours prior to the call from the Neonatology Department (Figure 1).
Dermatological examination revealed a 5.6-cmdiameter tumor, with a central crust,non-indurate and no inflammatory rim; localized on the scalp, 1.5cm left of the midline.The newborn was otherwise healthy, with APGAR 10 at birth, young parents with noconsanguinity or known medical problems. No visible or palpable scalp defect was foundat the first examination. Local wound care was done with simple povidine iodine. Theclinical diagnosis was aplasia cutis congenital and the main task (a difficult one) wasto reassure the parents and medical staff from the Neonatology Department, instructingthem simply to wait and observe the evolution of the skin lesion. There were no signs ofinfections and/or hemorrhages; no skull defects or other abnormalities.
The parents did not agree to a skin biopsy or complete removal of the tumor despite therecommendation from pediatricians, while pediatricians from the Neonatology Departmentdid not approve an MRI.
A reexamination was done 6 months later, revealing only a small, atrophic hairless scarof approximately 5cm in length, at the site of the previous tumor (Figure 2).
DISCUSSION
Aplasia cutis congenita (ACC) is a rare malformation characterized by localized absenceof the skin, mostly on the scalp, but also on any part of the body.1
In most cases, Aplasia cutis congenital is observed (by family members or medical staff)during the first days of life, as a single lesion on the vertex lateral to the medianline, although reports of different locations (face, trunk, abdomen, limbs) haverecently been published.1,3The typical lesion is small (0.5cm10cm),well circumscribed, with different aspects: circular, oval, linear or stellate,membranous (membranelike surface) or non-membranous (irregular and larger).4Aplasia cutis may be associated withdefects of the underlying skull, especially when the skin lesion is larger than 10cm.This is an important clinical clue when considering associated malformations orpossi-ble complications (sagittal sinus hemorrhage or thrombosis, focal infection ormeningitis), important causes of death.5The lesion is non-inflammatory and circumscribed. The clinical aspectmay inform about the moment of induction during pregnancy: early in the first weeks,there is time for healing and the lesion appears as an atrophic or fibrotic alopecicscar.
In some cases, deeper defects can be observed: ulcerations that go through the dermis,subcutis, periosteum, even the skull and dura, with severe complications.
The hair collar sign (distorted hair growth around a scalp lesion) is a significantindicator, raising the question of underlying injuries. The location of the ACC to thevertex can be explained partially by the existence of maximum tensile force during rapidbrain growth in that region; this happens during weeks 1015 of gestation.
The exact mechanism is still not completely understood, although many etiologicalfactors have been incriminated in recent years: 4
chromosomal abnormalities,
traumatic mechanism,
amniotic defects,
intrauterine problems,
thrombotic events, vascular alterations.6
teratogens used in pregnancy: misoprostol, cocain, methotrexate,angiotensin-converting enzyme inhibitors, methimasol, benzodiazepines, valproicacid.7,8
Most cases are sporadic but genetic backgrounds (autosomal dominant and recessiveinheritance) have also been reported; the large ulcerated lesions are often transmittedas an autosomal dominant trait.4,9In the great majority of cases, theevolution is without complications and simple wound care is suitable. Complications thatcan aggravate the prognosis (such as hemorrhage, local infection, meningitis or moresevere sagital sinus thrombosis), are rarely reported. There have been reports ofseizure and psychomotor retardation.10
However, the most important issue concerns the associated anomalies that pose manypractical problems to medical staff.
There is no consensus regarding treatment. Options include monitoring and surgicalintervention; but the rule is that in cases of large lesions, with or without deeperabsence of substance, plastic surgery should be performed as soon as possible. Friedenproposed a classification (Chart 1) that is ofgreat value for daily practice,5consisting of 9 groups based on the number and location of the lesions, and the presenceor absence of associated malformations.
CHART 1.
Classification of Aplasia cutis congenita by Frieden
Type | characteristics | Transmission |
---|---|---|
1 | scalp ACC without multiple anomalies | AD or sporadic |
2 | Scalp ACC with limb anomalies: | AD |
•distal limb reduction (Adams-Oliver syndrome) | ||
•hypoplastic or absent distal phalanges | ||
•cutis marmorata telangiectatica congenita, hemangiomas, cranialarteriovenous malformation, skin tags, supernumerary nipples, and woollyhair | ||
3 | Scalp ACC with epidermal nevus syndrome ophtalmic and neurologic problems:(seizures, mental retardation, corneal opacities, and eyelid colobomas) | sporadic |
4 | ACC with embryologic malformations: meningomyelocele, porencephaly,leptomeningeal angiomatosis, cranial stenosis, spinal dysraphism,gastroschisis, and omphalocele | variable |
5 | ACC associated with fetus papyraceous (results from the death of a twinfetus in the second trimester) or placental infarct; ACC is extensive on thetrunk or limbs, linear or stellate configuration. | sporadic |
6 | ACC (on lower extremities) associated with epidermolysis bullosa | depends on the type of epidermolysis bullosa: AD or AR |
7 | ACC on the extremities without epidermolysis bullosa | AD or AR |
8 | ACC caused by teratogens: intrauterine infection with herpes simplexvirus/varicellazoster virus, methimazole, carbimazole treatment duringpregnancy | not inherited |
9 | ACC associated with malformation syndromes: | variable |
•trisomy 13 (Patau syndrome) | ||
•4p- (Wolf-Hirschhorn) syndrome | ||
•Setleis syndrome | ||
•Johanson-Blizzard syndrome | ||
•focal dermal hypoplasia (Goltz syndrome), | ||
•amniotic band disruption complex, | ||
•oculocerebrocutaneous (Delleman) syndrome, | ||
•scalp-ear-nipple syndrome (Finlay-Mark syndrome), | ||
•Kabuki syndrome, | ||
•46XY gonadal dysgenesis |
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AD: autosomal dominant; AR: autosomal recessive
We recommend the following procedure for ACC workups:
lab investigations are within normal range and there are no specific tests
radiographs of the scalp, extremities should be performed in special cases;
skin biopsy and histopathological report: the absence of (or very thin) epidermis,of the dermis or deeper structures; in the dermis, "loosely arranged" collagenbundles; the absence of adnexes and elastic fibers;
ultrasonography, MRI in case of associated malformations and complications;
prenatal tests suggesting ACC: α-fetoprotein levelin amniotic fluid and maternal blood, and positive acethylcholinesterase test incase of normal ultrasonography;9
history of drug-intake during pregnancy, endocrinological status of the pregnantwoman, associated diseases;
genetic examination.punk-77
Footnotes
Conflict of interest: None
Financial funding: None
How to cite this article: Brzezinski P, Chiriac A, Pinteala T, Chiriac AE, Foia L.Aplasia cutis congenita of the scalp- what are the steps to be followed? Case reportand review of the literature. An Bras Dermatol. 2015;90(1):100-3.
*
Work performed Department of Dermatology, Nicolina Medical Center – Iasi,Romania.
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