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Nigerian J Paediatrics 2017 vol 44 issue 1

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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
1
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
2
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-
3
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.
4
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-
5
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.
4
large defects can be done.
In Friedenís 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
th
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
33
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
o
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
9
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 patientís 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,
9
herpes virus, varicella zoster virus or exposure to methi-
mazole.
10
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
1
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.
11
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
5
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
8
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 childís 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
3
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 Friedenís
classification. In this group, neonates have ACC con-
4
fined to the extremities without obvious malformation or
34
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