EPIDERMOLYSIS BULLOSA SIMPLEX :

CASE REPORT
Ernawati Hidayat 1*,Milka Wulansari.2,Asih Budiastuti. 3, Holy Ametati.4, Buwono Puruhito. 5
1,2,3,4,5
Department of Derrmatovenereology, Faculty of Medicine, Diponegoro University/
Dr.Kariadi Hospital, Jln.Dr.Sutomo No.16 Semarang-Indonesia
*Telephone : 082137904962, Email: ayakulkel@gmail.com

Abstract

Epidermolysis Bullosa Simplex (EBS) is a variant of epidermolysis bullosa (EB). The diasease is
a group of genetic disease that is very rare and could be inherited through autosomal dominant.
The disease is characterized by blistering of the skin as response to mechanical trauma. This lesion
usually heal without scarring. The disease phenotypes range from mild to severe among different
subgroups. There are three types of bullous epidermolysis which are: EB simplex (EBS),
dystrophic EB, and junctional EB, with the most common type is EBS. Currently there is no
specific therapy for EBS. Management includes supportive therapy are to reduce trauma, wound
care, and preventing secondary infection. A four- months-baby old presented with blisters on her
face, face, hands and feets since birth. Physical examination revelead erosison and excoriation .
Histopathological findings is tissue coated squamous epithelial complex, contains inflammatory
cells and hemorrhage, stroma tissue binding fibrocytes hyperemic spongy lymphocytes and
histiocytes. This is supported diagnostic epidermolysis bullosa. Diagnosis based on the history,
clinical features and histopatological findings. The principles of treatment are avoiding
mechanical trauma, infection prevention nutrition supports, blister aspiration, and topical
antibiotic. There was significan improvement when patiens presented back to hospital, skin lesion
healing without scar. Prognosis quo ad vitam ad bonam, quo ad sanam dubia ad bonam, qua ad
kosmetikam ad bonam.

Key words : Epidermolysis Bullosa Simplex, genetic, mechanical trauma, blister

Introduction
Epidermolysis bullosa simplex (EBS) is a disease group characterized by
intraepidermal blistering and most often is associated with keratin gene mutations.1 EBS is
inherited as autosomal dominant conditions2. Epidermolisis bulosa (EB) is crhonic disease with
the common feature of blistering in response to mild trauma. Patients with EB can show blistering
in the form of small vesicles or larger bullae.1,2 The prevalence of this disease is estimated to reach
1: 50,000 births 2. Types of Bullosa epidermolysis are Epidermolysis Bullosa simplex (EBS),
Dystrophic Epidermolysis Bullosa, and Junctional Epidermolysis Bullosa 2,3.
The pathogenesis of EBS results from missense mutations in genes encoding keratins 5
and 14 (KRT5 and KRT14)4,5. This Keratin is a major keratin in basal keratinocytes that play a
role in maintaining the integrity of the skin layer, causing weakness of basal cytoskeleton and
mechanical fragility, resulting in intraepidermal bullae after trauma.6,7 In dermal epidermolysis
bullosa dystrophic type, mutations in a gene encoding type VII collagen located on the base of
membrane above the dermis so that the dermo-epidermal duct becomes stable.5,6
Clinical features of EBS are intraepidermal and healed without scarring, and only skin,
nails and mucous membranes are not exposed.8,9 Clinical features of dystrophic bullae
epidermolysis where the bullae may affect the skin, the mucosa causes tooth decay, its healing
leaves scarring accompanied formation of milia.5,6
EBS is almost always clinically diagnosed. Light-microscopic examination may help to
identify the form of EBS, but can not diagnose dystrophic and junctional types.7 To locate the
cleft of the skin correctly can be done by skin biopsy examination by electron microscopy and
immunomapping.6,7,10

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 There is no specific treatment for EBS yet, whose treatment includes supportive therapy
that reduces trauma, wound care, and prevents secondary infection.5,11,12 Strong family
psychological education and support is also required. 13.14
Case
A baby girl, aged 4 months, came to Dermatovenerology Departement Dr. Kariadi
Hospital Semarang on September 8, 2017 with blisters on the face, hands and feets since birth. In
the mouth and nails there is no similar lesion. No History of family is sick like this.
Physical examination showed weighs 5600 grams, 36 ° C. Skin lesions are blister,
erosion, and crust on the face, both superior and inferior extremities. In the mucosa there is no
abnormality.
Blood test results were obtained 12,2% hemoglobin, leucocytes 12,700 / mm3, count type
Eos 3 / Bas 0 / Trunk 1 / Segment 48 / Lymphocyte 41 / Monocytes 6. No systemic abnormality
was found. Histopathologic skin biopsy The tissue is coated with a squamous epithelial complex,
keratin, appearing of a subepidermal blister, containing inflammatory cells and hemorrhage,
hyperemic fibrocolytic tissue binding stroma, lymphocytes, and histiocytes. There was no sign of
malignancy. The working diagnosis is a simplex bulosa epidermolysis, which can be diagnosed
in contrast with dystrophic episemolysis of epidermolysis.
Treatment for patient aspiration bullae, olive oil, twice a day, and Fusidic acid 2% oz
twice a day. Parents sufferers are also educated to avoid trauma although mild and avoid the
exposure of hot air so as not to grow a new blister.

Pedigree

= Unaffected Male

= Unaffected Female

= Affected Male

= Affected Female

2
 Figure 1. First observation there are blisters, erosion and crust

Figure 2. Second Observation after 1 mounth treatment

Discussion
The diagnosis of Epidermolysis Bullosa Simplex in the patient was established by
anamnesis (alloanamnesis with both parents), physical examination and histopathological
examination.
Anamnesis showed girl baby, age 4 months, came to Dermatovenerology Departement
Dr. Kariadi Hospital Semarang on September 8, 2017 with blisters on the face, hands and feets
since birth. Phisical examination showed there was no similar lesions on mount and nails. No
History familial like this.
According to references Epidermolysis Bullosa Simplex (EBS) is an autosomal inherited
predominant disease, resulting from missense mutations in genes encoding keratins 5 and 14
(KRT5 and KRT14) .3,4 The EBS indices are initiated at birth or early infancy, childhood, or
young adulthood when subjected to mild friction trauma.4.5 EBS may appear spontaneously,
presumably as a result of genetic mutations.1,2
Physical examination showed weight 5600 grams, 36° C. Skin lesions were blisters,
erosion, and crust on the face, hands and feets. The mucosa were normal. Wound healing does
not leave scar tissue. According to reference mucosa and nails are rarely affected, but in some
cases the nails may develop dystrophy, especially if the blister is located beneath the nail bed,
healing occurs without scarring. 1,2,15
Histopathologic skin biopsy showed, the tissue is coated with a squamous epithelial
complex, berkeratin, appearing of a subepidermal blister, containing inflammatory cells and
hemorrhage, hyperemic fibrocolytic tissue binding stroma, lymphocytes, and histiocytes. There
is no sign of malignancy. This is consistent with the literature which states that in EBS
vacuolization occurs from basal cell degeneration or as a result of complete disintegration of the
basal cell layer to form subepidermal blister. With PAS staining the basal membrane is located

3
above the blisters. Blister can resist untill at survival of more than one day, so that when epithelial
regeneration occurs then the bull may be located intraepidermal or subcorneal.11
Differential diagnosis with dystrophic epidermolysis bullosa can be excluded because
there are no lesions in the oral mucosa, and healing of the lesions without scarring. This is
consistent with the literature that suggests that the clinical features of dystrophic epidermolysis
Bullosa where the bull may affect the skin, the mucosa causes tooth decay, its healing leaves scar
tissue with milia formation.1,2,4
Treatment for patient blister aspiration, olive oil twice a day, and Fusidic acid 2% oz
twice a day. Parents sufferers are also educated to avoid trauma although mild and avoid the
exposure of hot air so as not to a new bullae. Parents of the patients are also educated to avoid
trauma although mild and avoid the exposure to hot air. This is consistent with those mentioned
in the literature, where there is currently no specific therapy for EBS. Management is only
preventive and symptomatic, prevents the formation of new blister, prevents and treats infections,
helps wound healing, supports supportive nutrition, and provides strong psychological support
for the family. 13After being given supportive therapy as mentioned above, the patient showed
improvement. The prognosis for this sufferer is quo advitam ad bonam, quo ad sanam dubia ad
bonam, and quo ad cosmeticam ad bonam.

Conclusion
Has been reported a case of Epidemolysis Bullosa Simplex in a baby girl, 4 month old
with blisters on her face, face, hands and feets since birth. Physical examination revelead erosison
and excoriation . Histopathological findings is supported diagnostic epidermolysis bullosa. The
principles of treatment are avoiding mechanical trauma, infection prevention nutrition supports,
blister aspiration, and topical antibiotic. There was significan improvement when patiens
presented back to hospital, skin lesion healing without scar. Prognosis quo ad vitam ad bonam,
quo ad sanam dubia ad bonam, qua ad kosmetikam ad bonam.

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