Nigerian Journal of Paediatrics

7Congenital Ichthyosis in a Nigerian preterm neonate A case report and review of the literature

Niger J Paediatr 2016; 43 (2):99 – 101

CASE REPORT

Kuponiyi OT

Congenital Ichthyosis in a Nigerian

Ademolu AO

Ogunlesi TA

preterm neonate: A case report and

Ogunfowora OB

review of the literature

Alli-Balogun SA

DOI:http://dx.doi.org/10.4314/njp.v43i2.7

Accepted: 12th January 2016

Abstract : Congenital ichthyoses

Although,

the

skin

disorder

are relatively uncommon skin

resolved within fifteen days of

Kuponiyi OT

(

)

disorders

with

worldwide

treatment, the infant thereafter

Ademolu AO, Ogunlesi TA

occurrence. The ichthyoses are

developed inguinoscrotal hernia

Ogunfowora OB, Alli-Balogun SA

Department of Paediatrics,

heterogenous disorders of kerati-

and hydrocephalus necessitating

OOUTH, Sagamu, Ogun State, Nigeria.

nisation characterised by scaling

surgical consult.

The case is

Email: opeyemikuponiyi@yahoo.com

of the skin of varying severity.

reported to highlight the good

This report describes a case of

outcome of the cutaneous disorder

congenital ichthyosis in a preterm,

f o l l o w i n g

c o n s e r v a t i v e

male

Hausa

infant

which

management in a low-resource

happened to be the first case

setting.

managed at the OOUTH, Sagamu.

The infant was managed using

Key

words:

Collodion baby,

stringent

thermoregulation,

C o n g e n i t a l

i c h t h y o s i s ,

optimal hydration, use of topical

hydrocephalus, newborn, Sagamu

emollient

and

antibiotics.

Introduction

low-resource setting.

Congenital Ichthyoses are a rare heterogenous group of

Case Description

skin disorders characterized by excessive skin scaling

and dryness. They represent a disorder of keratinisation

One hour old male neonate of the Hausa tribe, was re-

or cornification arising from abnormal differentiation in

ferred from a private hospital on account of prematurity

the epidermal metabolism resulting in thick skin with

following spontaneous vertex delivery at 28 weeks + 5

poor elasticity, formation of blisters or bullae, trans-

days gestation.

epidermal loss of water and weakened physical skin

barrier to infections.

The mode of inheritance varies:

The pregnancy was registered at the referral centre.

there are autosomal recessive, autosomal dominant and

There was no significant maternal illness during

X-linked forms.

pregnancy and the mother received two doses of the anti

-tetanus vaccine. The only major illness the mother had

Most autosomal recessive cases of Congenital Ichthyo-

in pregnancy was prolonged drainage of the amniotic

ses (lamellar ichthyosis, non-bullous ichthyosiform

fluid from about 20 weeks of gestation necessitating

erythroderma) present in shiny (collodion) membranes

hospitalization for bed rest. She also bled par vaginam

which are taut and limit movements. Others present with

for three days prior to delivery. Dexamethazone was not

thick excessive skin scaling or even blisters present at

administered in pregnancy.

birth. Disfigurements are present, including but not lim-

ited to ectropion, corneal /retinal abnormalities, persis-

The baby cried immediately after birth but the birth

tently open O-shaped mouth, eclabium, small flattened

weight and APGAR scores were not stated. The father

ears and nose, fixed flexion of extremities / autoamputa-

was a 48-year old truck driver with Primary School

tion.

2-4

Leaving Certificate married to two wives. The mother

was a 27-year old Para1+0 cloth-dealer with a BSc

The rarity of the condition is attested to by the fact that

degree and the second of the two wives. The step-

there are no population studies on congenital icthyosis in

mother had three children: 10yrs (F), 7yrs (M) and 4yrs

most parts of the developing world, Nigeria inclusive.

(M). There was no indication of consanguineous

Only pockets of case reports are known in the literature

marriage.

in this part of the world. This report is meant to add to

the literature on this rare condition in Nigeria, highlight

On examination, he had generalized taut, thick (leathery)

the diagnostic challenges as well as showcase the

and shiny wrinkled skin (Figure 1). He was plethoric,

(35.9 c)

relatively good outcome of the cutaneous disorder in a

anicteric,

acrocyanosed,

cold

but

not

100

dehydrated. No dysmorphism was observed. He

A course of oral quinine was commenced when fever

weighed 1kg with length and head circumference of

persisted and blood film demonstrated asexual forms of

29cm and 25cm respectively (all less than 5

Plasmodium

falciparum .

Fever

and

abdominal

percentile). The gestational age was 31 weeks as

distension resolved and the taut skin membrane and

estimated by the modified Ballard Score. He was

desquamation was totally replaced with normal skin on

conscious and fairly active with intact primitive reflexes.

the 15th day of life. Severe anaemia was documented on

Musculoskeletal examination revealed linear skin breaks

the 24th day of life and he was serially transfused with

over the ankle joints with mild bleeding, skin tethering

sedimented cells at the rate of 15ml/kg/session and the

over the joints and partially flexed left knee joint from

post-transfusion PCV was 48%.

skin tautness. He had a persistently open O-shaped

mouth. No erythroderma, ectropion or corneal opacities

On day 27, reducible left inguinal hernia was noticed but

were observed. The right testis was palpable in the upper

immediate surgery was deferred due to the baby’s

clinical state. Examination on the 43

part of the hemiscrotum while the left testis was not

day of life

palpable in the scrotum or inguinal region. Examination

revealed craniofacial disproportion with full anterior

of the cardiovascular, respiratory systems and the

fontanelle, visible scalp veins and head circumference of

abdomen were essentially normal.

29.5cm. Transfontanelle ultrasound scan showed com-

municating hydrocephalus with moderately dilated lat-

eral, third and fourth ventricles with thinning of cerebral

Fig 1: Preterm male neonate

mantle. The brain stem and cerebellum were normal.

with Congenital Ichthyosis

Thereafter, the baby was referred for neurosurgical in-

showing shiny wrinkled skin

tervention with the weight of 1.2kg. Surgical release of

and open mouth.

the left knee fixed flexion was not necessary as the

membrane spontaneously broke with restoration of

normal skin and mobility. The parents were counselled

on the nature of underlying skin disorder.

Discussion

Diagnosis of Congenital Ichthyosis-lamellar type (in a

Congenital ichthyoses are a rare heterogenous primary

preterm, Very Low Birth Weight baby) was made. Skin

group of inherited skin disorder characterized by exces-

biopsy for histologic and genetic studies could not be

sive skin dryness and scaling. They can be classified

done as the facilities were not available. The Random

into two broad groups- syndromic and non- syndromic

Blood Glucose at presentation was 31mg/dl. It was

forms. The latter can be further classified into different

corrected with 4ml/kg 10% D/W and subsequent

types based on the clinical features, genetic analysis and

monitoring showed values within normal limits. Initial

histology findings.

laboratory screening revealed the following: PCV -

This group of skin condition has been reported in differ-

31%,WBC - 8.28 X 10 /L, Platelet - 54 × 10 /L, normal

ent parts of the world with incidence of 1/6,000 in the X

electrolytes, urea and creatinine, negative blood culture,

-Linked Ichthyosis and 1/20,000-30,000 in the other

normal G6PD status, Baby’s blood group – A Rhesus+,

inheritable non- syndromic types.

5,6

Many case reports

Mother’s blood group – O Rhesus+ and negative Direct

of the non- syndromic type have been made in Nigeria.

Coomb’s Test . Parenteral antibiotics (Cefuroxime and

7,8,9

This case adds to the list of this relatively

Gentamicin), IM Vitamin K, IV Aminophylline and

uncommon disorder in the country.

10% D/W infusion were instituted. He was nursed in an

incubator and kept nil per os. Prophylactic phototherapy

Although all races may be affected, this case was simi-

and generous bland Blue Seal Vaseline

application to

lar to three of the four cases reported at Enugu, southeast

the skin were also commenced.

Nigeria by Obu et al who were of the Hausa/Fulani

descent. All the three cases however had a history of

Temperature instability was documented from the first

consanguinity in contrast to this case. Orogade also

day of admission. Jaundice was first noticed at 9hrs of

reported a case of a collodion baby in Kaduna. The

life with total serum bilirubin rising to a peak of

father was Hausa/Fulani but without history of

11.1mg/dl on 5 day of life. Due to the poor clinical

consanguinity which was similar to the situation of our

condition, double volume exchange transfusion could

patient. Only about 25% of the cases of lamellar

not be done but intensive phototherapy was commenced

ichthyosis are born prematurely.

Conversely, most are

along with serial whole blood transfusion for three days

delivered at term or post – term. Similar to this case

to increase serum albumin concentration. This practice

however, one of the two cases reported by Joh-Jong et al

aimed to reduce the concentration of free bilirubin and

was born prematurely.

by extension, the risk of bilirubin encephalopathy. Anti-

biotics were changed to Ceftadizime and Metronidazole

Similar to most cases diagnosed in Nigeria, the index

on account of the poorer clinical state, particularly with

case was diagnosed using only physical characteristics

abdominal distension. Jaundice thereafter resolved and

as the facilities for genetic analysis were not

the post transfusion PCV rose to 45% (from 31%).

101

available.

7,8,9

Prenatal diagnosis is available via fetal

usual morbidities associated with prematurity, it is

ultrasound scan for physical features, amniotic fluid

attractive to consider them as possibly linked with the

analysis for genetic mutations and hormonal assays and

ichthyosiform disorder. This observation has previously

been made by Small et al .

fetal skin biopsy. Post-natal diagnosis is also made

Therefore, it would have

through genetic mutation analysis, clinical features, his-

been helpful to have extensive genetic analysis of the

tologic findings and hormonal assays. Unfortunately,

index case in an attempt to establish any genotypic or

both arms of the dignostic possibilities could not be

phenotypic link between congenital ichthyosis and

explored in this case. Indeed, histology could not be

inguinoscrotal hernia or hydrocephalus in the child. In

done before referral due to logistic reasons. The

spite of this shortcoming, this report highlights the good

generalized collodion membrane, as is the case in 80%

outcome in lamellar congenital ichthyosis in a low-

of cases was totally shed in the index infant by the 15

resource setting.

day of life, in tandem with the cases cited by literature.

7,11

Thereafter, the skin remained normal although long

term follow up would be needed to monitor for

recurrence. This experience was not different from that

Conclusion

of Obu et al , Orogade and Okoro et al . Ten percent of

cases shed the collodion membrane and retain normal

This report of a case of lamellar congenital ichthyosis in

skin for life (self- healing collodion baby) while about

a preterm infant adds to the existing literature database

75% will develop lamellar ichthyosis or non- bullous

on genetic conditions and raises important diagnostic

ichthyosiform erythroderma later in life. Fifty percent

challenges. Health facilities should be better -equipped

or less of the lamellar type of ichthyosis has ectropion

to aid definitive diagnosis for better outcome and

hence it was not unusual for the index baby not to have

improvement of the quality of data.

ectropion.

5,11

This cutaneous disorder was managed in the index case

Conflict of interest: None

using lubrication with bland petrolatum as a universally

Funding: None

accepted mode of treatment. This hydrates and

lubricates the skin thereby enhancing desquamation and

re-epithelialization.

Other aspects of care such as

hydration and use of antibiotics were essentially the

Acknowledgement

same as reported by other researchers.

Inguinoscrotal hernia and hydrocephalus found in the

Drs Adekunle R. Abdul and Peace U. Adeniyi are

index baby are not known complications associated with

appreciated for participating actively in the management

congenital ichthyoses. While they may be some of the

of the child.

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