Nigerian Journal of Paediatrics

6Aplasia cutis congenita in a Nigerian child A case report

Niger J Paediatr 2017; 44 (1): 32 -

CASE REPORT

Mava Y

Aplasia cutis congenita in a

Yakubu AM

Nigerian child: A case report

DOI:http://dx.doi.org/10.4314/njp.v44i1.6

Accepted: 1st October 2015

Abstract : Aplasia cutis congenita

creating awareness in view of the

(ACC) is a rare skin disorder, the

rarity of this condition. Conserva-

Mava Y (

)

cause is not known but intrauter-

tive treatment of the ulcers has

Yakubu AM

ine infections, drugs, chromoso-

yielded excellent result but not

Department of Paediatrics,

College of Health Sciences Bingham

mal and genetic disorders, vascu-

without complication of acquired

University Teaching Hospital Jos

lar compromise and trauma have

syndactyly, the child is being fol-

Nigeria.

been implicated. Clinically the

lowed up for possible surgery to

Email: yakubumava@gmail.com

diagnosis is made based on physi-

release the digits.

cal findings indicative of intrau-

terine disruption of skin develop-

Key words: Aplasia cutis con-

ment. We present an eighteen

genita, Epidermolysis bullosa,

hours old neonate with Aplasia

Neonate, Honey dressing, Frieden

cutis congenita, this is aimed at

classification, Nigeria

Introduction

sociated with malformation syndromes such as Down

syndrome, Patau syndrome etc.

Aplasia cutis congenita is a rare congenital developmen-

The exact pathophysiological mechanism of this disor-

tal skin defects, characterized by well demarcated, oval

der is not clear but propositions included; intrauterine

or circular ulcers or scars. It could be in a localized area

trauma, vascular compromise, maternal infections and

or widespread at birth. The condition is most commonly

medications. Aplasia cutis congenita is typically spo-

seen on the scalp in 90% of cases, but ACC can affect

radic but autosomal dominant and less commonly auto-

any part of the body.

2, 3

Aplasia cutis congenita is pri-

somal recessive cases have been reported. Globally the

marily a clinical diagnosis with no specific histological

estimated

incidence of ACC is 3 in 10,000 live

births.

2,4

alterations. At birth most cases of ACC have ulcerated

If the defects is small recovery is usually un-

lesions which may show total absence of skin, some-

eventful, with gradual epithelization and formation of

times extending to the bone or dura. Aplasia cutis con-

hairless, atrophic scar over several weeks. Sometimes

genita can be associated with other physical abnormali-

surgical intervention may be necessary. The sex distri-

ties or malformation syndromes, chromosomal or other

bution is equal except if it is associated with an X-linked

disorders such as ectodermal dysplasia and epidermoly-

malformation syndrome.

sis bullosa.

The treatments of ACC depend primarily on size, dept

and location of the defect and therapy of associated dis-

orders. Variety of dressings both adhesive and non ad-

Frieden created a classification system consisting of

hesive materials have been used.

6, 7

nine groups based on the number and location of the

Surgical repairs of

lesions and the presence of associated malformations.

large defects can be done.

In Frieden’s classification group 1: This was a scalp

This paper present Aplasia cutis congenita; with sole

ACC without multiple anomalies, a collar of hair was

aim of creating awareness of this rare but treatable con-

often seen around the defect. This can be autosomal or

dition with good outcome depending on the size of the

sporadic in occurrence. Group 2; was a scalp involve-

lesion.

ment with limb anomalies usually lower limbs with

asymmetric lesions. Group 3; was a scalp ACC with

Case Report

epidermal and sebaceous nevi. Some patients reported in

this group had ophthalmic and neurologic findings typi-

MBM, 18 hours old product of term female neonate was

cal of epidermal nevus syndrome. Group 4; ACC had

admitted into the Neonatology Unit of the Bingham Uni-

versity Teaching Hospital Jos on 13 Jan 2015. The

hair collar overlying deeper embryologic malformation.

Examples were meningomyelocele, leptomeningeal an-

mother was a 23 year old lady whose husband was a 30

giomatosis, porencephaly, gastroschesis etc. In group 5:

year local security guard. The pregnancy was unevent-

This was ACC associated with fetus papyraceous, while

ful, supervised and delivered in a Plateau State Special-

in group 6 ACC was associated with siplex, junctional

ist Hospital Jos. The baby was referred to us when the

or dystrophic types of epidermolysis bullosa. Group 7:

lesions were noticed at birth. There was no family his-

This was ACC localized to the extremities without epi-

tory of congenital malformation.

dermolysis bullosa. Group 8; this was ACC specifically

Examination revealed symmetrically distributed ulcers

due to teratogens. Lastly in group 9: This was ACC as-

involving both upper and lower limbs. There were no

bullae, discharges, or bleeding. The baby was afebrile

epidermolysis bullosa. This particular type is said to be

temperature of 36.7 C. The baby weighed 2.4kg; the

very rare, however there was a report of two families

length and the occipito-frontal circumference were

with multiple members having ACC on the pretibial

within normal limits. The ulcers covering 5% of the total

lower extremities and the dorsal aspects of the hand and

the feet, these reports described features similar to the

body surface area on each hand, while it covered 10%

and 9% on both the right and left leg respectively (see

index child. (See figure).

figure bellow). There was no evidence of inflammation.

Other systems examination was essentially normal. A

The index infant has no history suggestive of fetus pa-

diagnosis of aplasia cutis congenita was made with a

pyraceus or placental infarcts as the placenta was re-

differencial diagnosis of epidermolysis bullosa.

ported to be normal. In group 8 of Frieden classification

of ACC teratogens are known causes. These had also

The patient’s packed cell volume was 46%, WBC was

been linked in few cases to intrauterine infections with

10 × 10 /L with 68% neutrophils and 32% lymphocytes,

herpes virus, varicella zoster virus or exposure to methi-

mazole.

the VDRL was non reactive and the HIV serology was

The mother of this child had no history sug-

negative. The blood culture yielded no bacterial growth

gestive of viral infections in pregnancy neither was she

and the wound swab culture was also negative. The se-

exposed to medications apart from the routine antenatal

drugs. Ercan et al reported 3 cases of ACC, the first one

rum electrolytes were within normal limits. Patient was

commenced on 1/5 normal saline in 8.4% dextrose, in-

was linked to intrauterine infection (rubella), the second

travenous cefuroxime 120mg 12 hourly, intramuscular

case was linked to trisomy 13 syndromes and the third

gentamycin 6mg 12 hourly and a daily wound dressing

case was linked to fetal valproate syndrome. None of

with honey, she responded well to these treatments and

these factors appeared to be relevant in our infant.

within six weeks the wound had healed except for a

complication of acquired syndactyly. Surgical interven-

Pathologically the lesions in ACC are non inflammatory

tion to release the digits is being planned.

and well demarcated as was the case in the index infant.

Laboratory investigations in the index infant were all

Fig 1: Ulcers at pres-

within normal. This is not surprising; as it has been well

entation

documented in the literature that there were no specific

laboratory abnormalities that were consistently found in

this condition.

2, 3, 4

Elevated alpha feto protein in mater-

nal serum and amniotic fluid as well as elevated acetyl-

cholinestrases in amniotic fluid had been tried in the

past, as biochemical markers but they have been aban-

doned because they lack sensitivity and specificity.

The index child responded very well to medical treat-

Fig 2: After 6 weeks

ment, within six weeks the wound were virtually com-

of treatment

pletely healed. The decision to use medical, surgical or

both modes of therapy depends primarily on size, dept,

location of the defects and therapy of associated abnor-

malities. This child had occlusive honey dressing, but in

large defects ACC surgical repair including excision

with primary closure, use of tissue expanders and rota-

tion of flap to fill defects, skin and bone grafting may be

required.

The prognosis in this child was excellent. This was in

Discussion

conformity with the usual excellent prognosis occurring

in groups 7 of the Frieden classification to which this

Aplasia cutis congenital first reported by Campell in

child belongs. But we are mindful of anticipated compli-

1826, is a rare disorder. Following this report there have

cations, such as large scars, contracture and acquired

been few cases reported in literature most of which were

syndactyly. The index child had developed acquired

outside Africa. This condition is most often seen on the

syndactyly (See fig 1B). In other types of ACC the prog-

scalp in 90% cases.

2, 3

The index child’s lesions affected

nosis is dependent on the severity of the lesion and other

the extremities making it one of the rare group of ACC.

congenital abnormalities.

At birth most cases of ACC have ulcerated lesions

which may show total absence of skin, sometimes ex-

tending to the bone or dura. The later did not apply to

the index infant, because lesion did not affect the bones;

neither was there any lesion on the scalp.

The index child has no other associated malformation

defects; this therefore put her in group 7 of the Frieden’s

classification. In this group, neonates have ACC con-

fined to the extremities without obvious malformation or

Reference

Ercan M, Seyhan E, Sukran T,

Frieden IJ. Aplasia cutis congenita:

Boente MC, Frontini MV, Acosta

Guven L, Erkan A, Nihal O. Apla-

clinical review and proposal for

MI, Saleme C, Barrionuevo S,

sia cutis congenita: three cases

classification. J Am Acad Dermatol

Asial R. Extensive symmetric

with three different underlying

1986; 14(4): 646-60

truncal aplasia cutis congenita

aetiologies. Turkish Journ Paedi-

Browning JC. Aplasia cutis con-

without fetus papyraceus or mac-

atr 2009; 51: 510-14

genita: approach to evaluation and

roscopic evidence of placental

Moros PM, Labay MM, Valle SS

management. Dermatol Ther.

abnormalities. Paediatr. Derma-

et al. Aplasia cutis congenita in a

2013; 26(6): 439-44

tol 1995; 12(3):228-30

newborn: aetiopathogenic review

Azad S, Falder S, Harrison J, Gra-

10. Izhar R, Ghani T. Aplasia cutis

and diagnostic approach. Ann Esp

ham K. An adherent dressing for

congenita and antithyroid drugs. J

Paediatr 2000; 52(5): 453-6

aplasia cutis congenita. Br J Plast

Pak Med Assoc 2002; 52(11):

Demmel U. Clinical aspect of con-

Surg 2005; 58(8): 1159-61

526-8

genital skin defects: I. congenital

Lahiri A, Nishikawa H. A nonad-

11. Gerber M, de Veciano M, Towers

skin defects on the head of the

herent dressing for aplasia cutis

CV, Devore GR. Aplasia cutis

newborn. II. Congenital skin de-

congenita. J Plast Reconstr Aesthet

congenital: a rare cause of ele-

fects on the trunk and extremities

Surg 2006; 59(7): 781-2

vated alpha- fetoprotein levels.

of the newborn; III. Causal and

Campbell W. Case of congenital

Am J Obstet Gynecol 1995; 172

formal genesis of congenital skin

ulcer on the cranium of a fetus.

(3): 1040-1

defects of the newborn. Eur J Pae-

Edinburgh J Med Sci 1826; 2: 82

diatr 1975; 121: 21-50