CASE REPORT

Niger J Paed 2012; 39 (4):194 –196

Peterside O

Epidermolysis bullosa simplex: A

case report

Kunle-Olowu OE

Adeyemi OO

Akinbami FO

Omene J

DOI:http://dx.doi.org/10.4314/njp.v39i4,9.

Accepted: 1st March 2012

Abstract Epidermolysis bullosa

EB) is a rare hereditary cutaneous

Nigeria where there is under

(

reporting of clinical cases. To the

knowledge of the authors, there₃_,a₄r_, e₅

few reported cases in Nigeria.

and none from Bayelsa State in the

delta region of the country. We

herein present a case of epidermoly-

sis bullosa simplex (Dowling Meara

type) in a 35 day old infant. This

case is reported with the aim of

increasing awareness of its exis-

tence in Nigeria and Bayelsa State

in particular.

(

)

Peterside O

disorder inherited mainly in₁ an

autosomal dominant fashion. It

consists of a group of conditions

that cause the skin to be fragile and

blister easily. EB has been classi-

fied into three types namely; sim-

Kunle-Olowu OE, Adeyemi OO, Akin-

bami FO, Omene J

Department of Paediatrics and Child

Health, Niger Delta

University Teaching Hospital,

Bayelsa State, Nigeria.

E-mail: docolyemen@yahoo.com.

Tel: +2348055855327

2

plex, junctional and dystrophic .

Although all three types of EB have

different causes, their symptoms are

similar, manifesting as painful blis-

ters and sores. Epidermolysis bul-

losa is a very rare condition but

may probably be more common in

clinical practice than reported in

literature, especially in places like

Key words: epidermolysis bullosa

simplex, case, skin ulcers

Case report

pregnancy was carried to term. Mother had prolonged

rupture of membranes for about 48 hours before delivery

by spontaneous vertex at a private hospital. He had been

adequately immunized for age and was exclusively

breastfed. He was the first and only child of unrelated

parents in a monogamous family setting.

N.L. was a 35 day old male, referred from Federal Medi-

cal Centre, Yenagoa with redness of the nail beds since

birth, sores on the skin, and bleeding gums of a month

duration.

He was born with long nails and redness of the nail beds

which soon progressed to ulcers. The ulcers had been

progressive since birth and his nails fell off after some-

time. Sores on the skin started as blisters on the face

which ruptured spontaneously to form ulcers. The ulcers

increased in size and gradually progressed to involve the

abdomen, umbilicus and perineum. Some of the ulcers

healed without scarring while new ones formed. Parents

noticed occasional gum bleeds which were aggravated

by crying and resolved spontaneously.

On examination, he was a well nourished active baby

with necrotic ulceration of the nail beds of the fingers

(fig. 1) and toes. The affected nails of both the hands

and feet were completely destroyed. He also had ulcers

on the gums with multiple scalds on the abdomen, um-

bilicus, trunk and perineum (fig. 2). All other systems

were normal. An initial diagnosis of scalded skin syn-

drome was made and he was admitted and placed on

intravenous antibiotics (cefuroxime and genticin) with

syrup fluconazole. Skin ulcers were dressed with gentian

violet lotion.

He was admitted at the Federal Medical Centre (FMC),

Yenagoa on the second day of life and was treated as a

case of skin sepsis with intravenous antibiotics, topical

antifungal and antibiotic creams without improvement.

He was discharged home after nine days. When symp-

toms progressed, his parents took him back to FMC

from where he was subsequently referred to the Niger

Delta University Teaching Hospital (NDUTH).

On review by the dermatologist, a diagnosis of epider-

molysis bullosa simplex was made. His parents were

counselled on care of the baby and were advised to clean

the ulcers with normal saline and cover with mupirocin

(bactroban) ointment. They were taught to wrap each

finger loosely with Vaseline gauze to separate them.

While on admission, some of the old ulcers healed

without scarring but new ulcers started appearing.

Pregnancy was supervised at the Federal Medical Centre

Yenagoa. Mother took only routine antenatal drugs and

1

95

He was discharged after four days on oral antibiotic to

come for follow up and skin biopsy the next week but

was lost to follow up.

epidermolysis bullosa simplex. The mildest form,

known as the Weber-Cockayne type, is characterized by

skin blistering that begins anytime between childhood

and adulthood and is usually confined to the hands and

feet. Later in life, skin on the palms and soles of the feet

may thicken and harden (hyperkeratosis). In the Koeb-

ner type, blisters appear at birth or in early infancy and

are more widespread. Another form of the disorder,

called epidermolysis bullosa simplex with mottled pig-

mentation, is characterized by patches of darker skin on

the trunk, arms, and legs that fade in adulthood. This

form of the disorder also involves skin blistering from

early infancy, hyperkeratosis of the palms and soles, and

abnormal nail growth. The Dowling-Meara type is the

most severe form of epidermolysis bullosa simplex. Ex-

tensive, severe blistering can occur anywhere on the

body, including the inside of the mouth, and blisters

may appear in clusters. Blistering is present from birth

and tends to improve with age. Affected individuals also

experience abnormal nail growth and hyperkeratosis of

the palms and soles.

Fig 1

Fig 2

Symptoms of EB are first seen at birth as in our patient

who presented with redness of the nail beds at birth. Our

diagnosis was based on the history and physical exami-

nation. Our patient presented with the typical pattern of

developing blisters on the hands and feet from birth with

destruction of the nails. The blisters either occur sponta-

2

neously or in reaction to minor trauma. In our patient,

the blisters on the skin were more on the trunk and per-

ineum which may have been triggered by friction from

his clothing and diapers while the sores on the nail beds

occurred spontaneously. Gum bleeds were triggered by

crying which would ordinarily not lead to bleeding in

infants without this condition.

The variant of epidermolysis bullosa simplex (Dowling

Meara type) found in our patient is the most severe

2

form. In this form, extensive, severe blistering can oc-

cur anywhere on the body, including the inside of the

mouth as in our patient. Blistering is present from birth

and tends to improve with age. Affected individuals also

experience abnormal nail growth and hyperkeratosis of

the palms and soles. The outcome of the blisters in our

patient may be difficult to ascertain as he was lost to

follow up.

Discussion

Epidermolysis bullosa is a heterogenous group of mech-

anobullous disorders characterized by increased skin

fragility and blistering of the skin and mucous mem-

branes following minor or insignificant trauma or trac-

tion. I₁t is caused by a mutation in the keratin or collagen

gene.

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Oseni et al reported three similar cases in Owo. Their

patients, like ours, were born with blistering and peeling

of the skin from birth. As highlighted in their case report

they also had similar diagnostic challenges. Similar to

their experience, our patient was initially managed for

skin sepsis and was discharged with no improvement.

Diagnosis was subsequently made upon referral to a

tertiary hospital but our patient was lost to follow up

before the planned skin biopsy for histology was done.

An estimated 50 in one million live births are diagnosed

with epidermolysis bullosa. Of these cases, approxi-

mately 92% are epidermolysis bullosa simplex, 5% are

dystrophic epidermolysis bullosa, 1% are junctional

epidermolysis bullosa, and 2% are unclassified. Carrier

frequency ranges from 1 in 333 for junctional, to 1 in

6

4

presumed to be much higher than in the other types.

50 for dystrophic. Carrier frequency for simple₂x, is

Medenica et al in Serbia reported two cases of a 27 year

old male Caucasian and a 24 year old female whom they

had managed from birth. Like our patient, both patients

presented with denuded skin on both feet with general-

ized blistering of the skin from birth. Both cases

The simplex form of epidermolysis bullosa is inherited

as an autosomal dominant trait. There are four types of

2

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96

8

developed various problems ranging from pseudo fusion

of the digits to difficulty with protrusion of the tongue.

This highlights the problems our patient is likely to face

in the future if he lives to the second decade.

Our case was different from that reported by Asish et al

at Indira Ghandi Medical College. Their case was a 40

year old man who presented with symptoms from child-

hood unlike our patient who had symptoms from birth.

Their patients lesions healed with scarring in contrast to

ours where the lesions healed without scarring.

In our patient, there was no family history of blistering

disorders which points away from an autosomal domi-

nant inheritance. There was also no history of consan-

guinity amongst the parents which may have been sug-

gestive of an autosomal recessive inheritance. Kihiczak

Treatment for epidermolysis bullosa simplex is mainly

supportive. In our patient, his parents were counselled

on avoidance of trauma and friction, wound manage-

ment, infection control and nutritional support. A topical

antibiotic cream, mupirocin (bactroban) was prescribed

to prevent superimposed bacterial infection. Vaseline

gauze was used to separate the fingers to prevent

pseudofusion.

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et al reported a case of an 18 month old female who

presented with recurrent episodes of blistering, mostly

of the hands and feet from birth. In their case, both par-

ents were second cousins, suggesting an autosomal re-

cessive inheritance. Unlike our patient, their patient

seemed to have a milder variant of epidermolysis bul-

losa simplex as there was no history of oral bleeds. The

condition was sporadic in our patient, probably due to

new parental genetic mutations. Since he was the first

child of his parents at the time he was seen, it was diffi-

cult to tell if other siblings from the same parents would

develop the same manifestation. His parents were how-

ever offered genetic counselling which included the risk

of recurrence in subsequent children.

Authors Contribution

Peterside O, Adeyemi OO: Managed the patient

and wrote the case.

Kunle-Olowu, Akinbami FO, Omene J: Proof read the

manuscript, made corrections and

contributions. All the authors contrib-

uted equally to the manuscript.

Conflict of interest : None

Funding : None

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