Epidermolysis Bullosa Simplex

Lydia Kurniasari

, Meiza

, Yosep Ferdinand Rahmat Sugianto

, Radityastuti

, Indra Wijaya

Departement of Dermatolovenereology,

Faculty of Medicine, Diponegoro University /

Dr. Kariadi Hospital Semarang

Department of Pathology Anatomy, Faculty of Medicine, Diponegoro University /

Dr. Kariadi Hospital Semarang

Corresponding author

Keywords: Epidermolysis bullosa simplex, skin blister, trauma avoidance

Abstract: Epidermolysis bullosa simplex (EBS) is a rare blistering hereditary disease. It generally occurs in infants

and children. Fine (2010) stated the prevalence of EBS is 19.6 / 1 million live births, and 8.22 / 1 million

populations. This case report is aimed to establish the early diagnosis for prognosis assessment and parents’

education. A 1-month-old babygirl presented with blisters which became erosion on elbow and foot, and

nail dystrophy since birth. Skin biopsy result was in accordance to EBS. Patient was treated with normal

saline compress, topical antibiotic, and topical placenta extract. Treatment resulted in improvement of skin

lesion. The blisters of EBS is found intraepidermally on trauma-prone sites. The patient was followed up for

8 months. No secondary infection was found. The parent was satisfied with the result of treatment. EBS is a

lifelong condition which requires meticulate attention from the parents. Trauma avoidance is pivotal to

prevent the blisters. Genetic counselling might be needed.

1 INTRODUCTION

Epidermolysis Bullosa Simplex (EBS), also known

as mechanobullous disease

is a genetic disorder

occurs in infants and children that cause the skin to

be very fragile and to blister easily without leaving

scars. Blister occurs in response to minor injury or

friction, such as rubbing or scratching and located

above the dermal-epidermal junctional layer. The

current name was “hereditary epidermolysis bullosa”

stated by Koebner in 1886 (Boediardja, 2002). As

reported by Fine (2010), the prevalence of EBS is

estimated around 19.6 per million live births and

8.22 per million general populations10. EBS covers

70% of all Epidermolysis Bullosa cases and EBS is

the mildest type (Fine et al, 2010; Lin et al, 1992;

Jennifer, 2017).

The four most common subtypes of EBS are

EBS localized (EBS-loc; previously known as

Weber-Cockayne type), EBS generalized

intermediate (EBS-gene intermed; previously known

as Koebner type), EBS with mottled pigmentation

(EBS-MP severe ( EBS-gen sev: previously known

as Weber ), EBS generalized severe ( EBS-gen sev:

previously known as Dowling Meara type ) (Paller

et al, 2011; Bashir et al, 2010).

EBS is inherited in

an autosomal dominant pattern and rarely occur in

an autosomal recessive pattern. EBS is typically

caused by mutations in the KRT5 and KRT14 genes

in which related to the formation of keratin 5 and

keratin 14, a type of protein that affects the strength

and elasticity of the epidermal layer (Paller et al,

2011; Marinkovich, 2012). Mutations will make the

epidermis to be easily damaged and injured. At other

cases new genes mutations also occur in people who

have no family history (Marinkovich, 2012).Clinical

features are characterized by fragility of the skin that

results in non-scarring blisters preceded by minor or

even no trauma, which usually heal without scar

tissue, blister appear on the hands and feet, in

annular or arch or group form, progressive brown

pigmentation interspersed with hypo-pigmented

spots on the trunk and extremities which often

disappears in adult life. The lession occurs in the

palmar region, hyperkeratosis in plantar, nail

dystrophy, and milia (Paller et al, 2011; Boediardja,

2002; Marinkovich, 2012; Ellen, 2016; Fine, 2014).

384

Kurniasari, L., Meiza, ., Sugianto, Y., Radityastuti, . and Wijaya, I.

Epidermolysis Bullosa Simplex.

DOI: 10.5220/0009989703840388

In Proceedings of the 2nd International Conference on Tropical Medicine and Infectious Disease (ICTROMI 2019), pages 384-388

ISBN: 978-989-758-469-5

EBS Therapy include: 1. Supportive care 2.

Prevention of secondary complications: topical and /

or systemic antibiotics or dressings or gels. 3.

Surveillance: for infection and proper wound

healing. 4. Agents / circumstances to avoid:

excessive heat, avoid poorly fitting or coarse-

textured clothing/footwear that traumatize the skin

(Ellen, 2016). Genetic counselling might be needed.

Genetic counseling is the process of providing

individuals and families with information on the

nature, inheritance, and implications of genetic

disorders to help them make informed medical and

personal decisions ((Ellen, 2016). The following

section deals with genetic risk assessment and the

use of family history and genetic testing to clarify

genetic status for family members

. The prognosis of

EB is highly dependent on the subtype of disease

that is present. Most EB patients, particularly those

with EBS , have normal life expectancies, but

significant morbidity may complicate some (Lin et

al, 1992; Jennifer, 2017).

2 CASE

A 1-month-old babygirl came to the dermatology

and venereology clinic of Dr. Kariadi Hospital

Semarang at September 2018 with skin peeling on

the elbows, fingers and feet, no nails growth on the

right and left fingers, and a brownish color on the

fingertips. Since birth, bullae appear from the

elbows, fingers and toes. Clothes friction can cause

ruptured bullae, then erosion occurs. Patients were

taken to the general practitioner in Jepara and given

antibiotic ointment. Based on the data told by the

patient's mother, there were no family history related

to this disease and no family relationship between

father and mother.

The patient showed good general condition, alert,

pulse are 130 beats per minute, respiration rate is 34

breaths per minute, temperature is 37

C. Physical

examination shows the weight is 3100 kg, head

circumference 33.5cm, body length 49cm,

examination of heart, lung, abdomen within normal

limits. Dermatology examination in the form of

linear erosion on the right and left elbow folds, right

and left foot, buttock and back ; right and left hand

nail dystrophy; right and left finger

hyperpigmentation (figure 1a).

Figure 1.a first observation on buttock and back erosion, elbows and fingers erosion, toes nail hyperpigmentation, nail

dystrophy, 1.b. Second observation (after 8 months). Healing in elbows erosion and nail hyperpigmentation but persistent

nail dystrophy

1a

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385

The result of consultation with pediatrics unit is

stunting. Laboratory results showed that

haemoglobin value: 8.4 g/dl, leukocytes: 13,000 /

uL, platelets: 980,000/uL, hematocrit: 27,7%,

albumin: 2,6 gr%, AST/ALT : 26/13 U/I, ureum/

creatinin: 14,5 mg% / 0,5 mg/dL

Histopathological section in elbow erosion

shows old lession, the feature are those of a cell free

sub-epidermal blister and are not specific ( the roof

in this blister is not seen on this section ) with the

base of fibrous stroma scatered with lymphocytes,

histiocytes, and macrophages, containing

hemosiderin pigments. No evidence of malignancy,

and histopathological consisten with the diagnosis

of epidermolysis bullosa simplex.( figure 2a,2b)

Figure 2a. Red arrow shows hemmorhage, green arrow shows fibrous stroma. H&E stain x 100, .2b. Red arrow shows

lymphocytes and histiocytes, green arrow shows hemosiderin pigments H&E stain x 400

The differential diagnosis in these patients is

Epidermolysis bullosa dystrophica, epidermolysis

bullosa acquisita. The diagnosis in this patient is

epidermolysis bullosa simplex. Treatment for these

patients was Normal saline compresses for 15

minutes before topical cream therapy, topical

antibiotics, topically extracted placenta.

3 DISCUSSION

EBS diagnosis is based on history, physical and

histopathological examination. In this case, erosion

preceeded with bullae was found . Based on several

studies it was mentioned that there were points of

keratin K5 and K14 gene mutations on

chromosomes 12 and 17, also missense mutations in

the amino acid sequence in keratin K5 and K14.

Changes in these amino acids can cause changes in

the structure of the keratin. In result, disruption of

the formation of intercellular intermedia filament

tissue that extends from the nucleus to the plasma

membrane that connects the structure of hemi-

desmosomes and desmosomes with basal

keratinocytes occur(Lin et al., 1992;Pfender et

al,2007;Taboli,2009,Arnold,2009;Fine,2014).So that

intradermal bullae easily formed due to the trauma.

Supportive examination is needed to diagnose

and monitor possible complications that can occur.

Laboratory examination of blood in EBS is generally

normal and if anemia present, it is usually associated

with a growth disorder and mal-absorption. In this

case, the patient's Hb is low and the patient is

stunted. The lack of protein, iron and blood through

the open skin causes iron deficiency hypo-albumin

and lack of minerals (Taboli,2009). Consultation

with a nutritionistis expected to be able to maximise

calorie and protein intake and the provision of

special nutrients and vitamins such as iron, zinc, and

vitamin D3 (Taboli,2009). Nutritional support is

important to promote wound healing

14.

Histopathological examination with a light

microscope is not recommended. It is suggested to

use electron microscope. Both Hematoxolin Eosin

(HE) and Periodic Acid Schiff (PAS) staining can be

used to see the basal membrane, Examination of a

skin biopsy using immunofluorescence microscopy

and transmission electron microscopy may be

considered but can have limitations in the diagnosis

of EBS(Ellen,2016).

Histopathological section in elbow erosion

shows old lession, the feature are those of a cell free

sub-epidermal blister and are not specific ( the roof

in this blister is not seen on this section ) with the

base of fibrous stroma scatered with lymphocytes,

histiocytes, and macrophages, containing

hemosiderin pigments. No evidence of malignancy,

and histopathological consisten with the diagnosis

2a 2b

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of epidermolysis bullosa simplex (Calonie et

al,2012).

EBS therapy is supportive and palliative, by

protecting itself from excessive friction or heat,

preventing abrasion and constriction, handling

secondary infections, supplementation and handling

of pain (Paller et al,2011;Marinkovich,2012)

For

skin care, an explanation and education is given to

the patient's family. Erosion is applied with

antibiotic cream or;ointment (Paller et

al,2011;Boediardja,2002;Pfender,2007;Fine,2008;El

len,2016). Administration of 0.9% normal saline

fluids compresses to wounds contribute to its

effectiveness as moist wound dressing promoting

granulation and epithelialization because normal

saline fluids can attract fluid from the wound

through osmosis and anti-inflammatory processes

(Bashir et al, 2010). Topical placenta extract used in

these patients contains fibroblasts, growth factors,

amino acids, nucleotides and vitamins that stimulate

biosynthesis of collagen (Tiwary,2015). Observation

after 8 months showed healing in elbows erosion

and nail hyperpigmentation, but persistent nail

dystrophy, In general, the result of therapy was good

(figure 1b).Genetic counseling is the process of

providing individuals and families with information

on the nature, inheritance, and implications of

genetic disorders to help them make informed

medical and personal decisions. Therefor, genetic

conseling might be needed for this patient

(Ellen,2016).

In the neonatal period it often causes death due

to the wide area of erosion that can cause sepsis, but

with the increasing age, the general condition will

get better with a quickly healed lesions without

leaving scar tissue and milia (Taboli,2009;

Marinkovich,2012;Fine,2014). Most EB patients,

particularly those with EBS, have normal life

expectancies, but significant morbidity may be

complicated (Lin et al,1992;Jennifer,2017). Those

indicate the prognosis of “dubia at bonam” due to

the better condition of the patient and significant

increase in activity.

4 CONCLUSION

An Epidermolysis bullous simplex case in a 1

month-old baby girl was reported. Diagnosis is

based on history of the disease, tracking family

history, physical examination and laboratory support

examinations and histopathology. Patient and family

are given genetic counseling and explanation of the

disease and skin care, prevention of the blister,

treatment and prevention of infections, nutritional

counseling to increase the quality of life of the

patients. And genetic counceling might be needed .

Prognosis in this case is dubia ad bonam.

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