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  
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.  
Tel: +2348055855327  
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  
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  
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-  
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  
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.  
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  
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  
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  
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  
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  
Kubeyinje EP, Onunu AN : Dys-  
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