Epidermolysis bullosa. Part 1: causes, presentation and complications

Epidermolysis bullosa. Part 1: causes,
presentation and complications
Elizabeth Pillay
Abstract
This article is the first in a series of three focusing on the causes, clinical
presentation, complications and care of adult patients affected by epidermolysis
bullosa (EB), a group of rare genetic skin fragility disorders. Although the condition
is rare, in some cases it presents extreme challenges both to those affected and
those involved in the care of the EB patient; therefore, these articles may have
relevance for other long-term disorders. While there is a wealth of information
regarding the ‘science’ of EB there is dearth of information regarding the care
of the adult EB patient, and this series of articles will endeavour to fill that gap.
This article focuses mainly on those patients affected with the most severe form
of EB found in the adult group, recessive dystrophic epidermolysis bullosa;
with the part two looking at the care of the adult with EB from the nursing
perspective, including wound management, and the experiences of a specialist EB
psychotherapist being presented in the final article of the series. Readers will thus
have an opportunity to gain an overall view of this difficult condition.
Key words: DebRA
disorders
n
Dermatology
n
Epidermolysis bullosa
E
pidermolysis bullosa (EB) is an umbrella
term for a group of rare genetic skin
blistering disorders characterized
by blister formation in response to
minimal trauma or friction. Fragility can also
extend to some of the internal mucosa and the
eye in some forms of EB (Uitto et al, 2000).
The effects of EB range from death in
early infancy in the most severe forms, to
other patients experiencing a life of increasing
disability. In the ‘milder’ forms a normal life
span is anticipated, although some disability and
pain is experienced by most patients (Fine et al,
2004a). In severe forms multiple squamous cell
carcinomas are a common cause of early death.
All forms of EB result from mutations in
genes, which encode for the formation of
structural proteins at the dermal-epidermal
junction/basement membrane zone. The
weakened, or in some cases absent structures
lead to ease of separation of the layers of skin
and consequent fragility (Uitto and Pulkkinen,
Elizabeth Pillay is EB Nurse Consultant and Team Leader
for DebRA Adult Nursing Team, DebRA UK and Guys
and St Thomas’ NHS Foundation Trust, London
Accepted for publication: February 2008
292
n
Genetic
n
Skin
mutations causing recessive dystrophic EB
(RDEB), apart from their rarity, are many and
varied, and identifying the causative mutation
is a complex, highly-skilled procedure carried
out by a few specialist centres globally.
The incidence of EB has not been fully
recorded, although there are thought to be
approximately 5000 individuals in the UK
suffering from all forms of EB (DebRA, 2008).
The EB registry in the United States reports
cases of EB of all forms is 54 per million
live births (Marinkovitch and Pham, 2006).
Atherton and Denyer (2003) give a prevalence
in the UK of 17–32 per million for all forms
of EB simplex and estimate there to be 20 per
million infants born with junctional EB. Horn
et al (1995) give a Scottish prevalence of 21.4
per million for all forms of dystrophic EB.
Forms of EB
2001). The type and severity of EB depend on
which gene is affected (Uitto et al, 2000), and
the variety in clinical presentation is caused by
the many different causative mutations.
EB is a genetic condition and can be inherited
either recessively or dominantly (Priestly et al,
1990). The more severe forms are generally
recessively inherited. In a dominantly inherited
disorder an affected parent will have passed
the faulty gene to their child. There is a 1 in 2
chance with each pregnancy that a child will
inherit the affected gene, which overwhelms
the normal gene inherited from the unaffected
parent.There is no ‘carrier’ status in a dominant
condition. Not infrequently a new mutation
known as a ‘de-novo’ mutation occurs. In this
situation the patient will have no family history
of the condition, but will have developed the
mutation spontaneously (Hashimoto et al,
1999; Atherton and Denyer, 2003).
In a recessively inherited disorder each of the
parents must carry the affected gene.With each
pregnancy the carrier parents have together
there is a 1 in 4 chance of an affected child
being conceived (McLean, 2000); thus, a person
with EB may have unaffected siblings. Unlike
some other recessive conditions (e.g. sickle cell
anaemia), carrier testing cannot be offered to
the general antenatal population as the genetic
There are a number of differing forms of the
condition classified by the level at which skin
cleavage occurs.There are three major groupings
of EB: simplex, junctional and dystrophic.
EB Simplex (EBS)
In EBS the weakened structures are within the
epidermis itself.This is the most common form
of EB, and although the fragility extends all over
the skin, blistering is most troublesome in the
areas exposed to most friction, i.e. the hands and
feet (Figures 1 and 2). Blistering is exacerbated
by heat and healing is without scarring.
EBS is overwhelmingly dominantly inherited.
EBS is almost always compatible with a normal
life-span (Atherton and Denyer, 2003; Pillay
and Graham-King, 2007).
Junctional EB (JEB)
There are two major forms of JEB, with
Herlitz JEB commonly leading to death in
early infancy, while non-Herlitz JEB is usually
compatible with a near normal life-span
(Atherton and Denyer, 2003). In non-Herlitz
JEB the most common problems are areas of
chronic ulceration (Figure 3), nail dystrophy
and loss, corneal erosions and scarring, alopecia,
and dental problems due to improperly formed
dental enamel (Pai and Marinkovich, 2002).
British Journal of Nursing, 2008, Vol 17, No 5
dermatology nursing
Fragility of the genitourinary tract is
commonly found in JEB and can lead to such
problems as urethral stenosis (Fine et al, 2004b).
The weakened structures are to be found at
the level of the lamina lucida of the basement
membrane zone. JEB is always recessively
inherited (Atherton and Denyer, 2003).
Figure 2. Blistering caused by epidermolysis bullosa
simplex Weber-Cockayne (Marinkovitch, 2007).
Figure 3. Chronic ulceration typically seen in junctional
epidermolysis bullosa.
Tidman, 2002). The cornea and conjunctiva of
the eye are also affected (Tong et al, 1999). In
severe RDEB the most common cause of death
is as a result of multiple aggressive squamous
cell carcinomas (Uitto et al, 2002). Healing
with scarring is a prominent feature of this
form of EB, and can lead to marked disability.
RDEB is a very variable disorder, and the
clinical picture is determined by the causative
genetic mutation and the amount of collagen
Vll the individual is able to make (Atherton
and Denyer, 2003).
Figure 4. Typical blistering found in dystrophic
epidermolysis bullosa.
Dystrophic EB (DEB)
DEB can be recessively or dominantly
inherited with the most severe effects generally
occurring when the condition is recessively
inherited (Horn and Tidman, 2002). In
RDEB patients frequently have blistering
and wounds over a large proportion of their
body surface with the fragility extending to
some of the internal mucosa and the eye. In
dominant dystrophic epidermolysis bullosa
skin and mucosal effects are generally less
severe and many patients are able to lead a
near normal life (Fine et al, 2000; Pai and
Marinkovich, 2002).
Recessive dystrophic EB (RDEB)
The affected gene in all forms of DEB is the
one that encodes for the protein collagen Vll.
Collagen Vll is a crucial component of the
anchoring fibrils which act like ‘velcro’ in
binding the epidermis to the dermis. If the
fibrils are absent or diminished this leads to
separation of the epidermis from the dermis in
response to minimal trauma or friction (Figure
5) (Wojnarowska, 1998). Thus, blisters are
formed with ease. These blisters go on to form
wounds, some healing within days, with other
blister sites forming chronic wounds.
This fragility also affects some of the internal
mucosa, most notably of the mouth, oropharynx,
oesophagus and the anal margins (Horn and
Symptoms, complications
and management RDEB
The skin
Patients with severe RDEB will present with
extensive skin involvement. They will have
blisters and wounds in various stages of healing.
These wounds can occur anywhere on the
body, but tend to occur on areas subject
to repeat trauma e.g. hands, feet and bony
prominences (Wojnarowska, 1998). Wound
healing is compromised by some of the other
effects of RDEB as outlined below.
Figure 1. Epidermolysis bullosa simplex Dowling Meara (Marinkovitch, 2007).
British Journal of Nursing, 2008, Vol 17, No 5
Wound management will be covered more
fully in the second article of this series;
however, wound care in RDEB has two
major objectives: the provision of the optimal
healing environment for wounded areas, and
protection against further trauma.
All dressings used must be non-adherent both
to the wound bed and the fragile peri-wound
skin. Commonly used primary dressings are
the soft-silicone range; Mepitel® and the
various forms of Mepilex® (Mölnlycke Health
Care Ld, Dunstable) and dressings coated with
lipido-colloid, Urgotul® and Urgotul® SSD
(Urgo Ltd, Loughborough). Dressing changes
for a severely affected EB patient can take
many hours. All blisters must be lanced and
drained to prevent extension through the
improperly bound skin layers.
Chronic wounds occur in many patients
(Figures 6 and 7), most notably in areas where
repeated wounding is a feature and very fragile
areas may heal and break down again with
rapidity (Figures 8 and 9). The ability of these
patients to heal is compromised by complications
such as malnutrition and anaemia (Mellerio et
al, 2007). Local factors compromising wound
healing are increased bio-burden and wound
infections as the protective functions of the skin
are lost (Sibbald et al, 2005). Over-granulation
is common, as is the presence of necrotic
material, commonly slough. Pruritus can be an
293
Figure 5. Absence or diminishing of anchoring fibrils, leading to separation of the epidermis from the dermis in response
to minimal trauma or friction in recessive dystrophic epidermolysis bullosa (EB). This is due to reduced production of
protein collagen VII, which is encoded by the gene affected in all types of dystrophic EB.
Epidermis
Basement membrane
Dermis
Separation of
epidermis and dermis
(blister formation)
Epidermal cells
Basement membrane
Collagen Vll anchoring the
basement membrane to
dermal structures
Dermis
overwhelming problem in RDEB and is the
cause of many new blisters and the breakdown
of almost healed wounds. Treatment includes
application of bland emollients to dry skin
– endeavouring to keep the patient cool
– and oral anti-pruritics (Schober-Flores, 2003;
Mellerio et al, 2007).
potential to incur damage while undergoing
procedures; this can be both cutaneous and
that occasioned by anaesthetic instruments and
procedures (Griffin and Mayou, 1993; Iohom
and Lyons, 2001).
Gastrointestinal complications
Wounds heal with atrophic scarring leading
to contractures, most notably of the hands
and feet. Scarring and contractures lead to the
loss of functional digits as both hands and feet
are ‘cocooned’ in scar tissue – this is known
as a mitten deformity or psuedosyndactyly
(Figure 10). Surgical release of contractures of
the hand is undertaken, although contractures
return, and repeat surgery is required after a
variable time (Figure 11) (Fine et al, 2005).
Peri-operative and anaesthetic management
of these patients is a challenge because of the
Gastrointestinal complications begin in the
mouth, where, although there are no primary
problems with enamel, such as those seen in
JEB, microstomia – as a result of scarring and
the fragility of the oral mucosa – lead to poor
dental hygiene with resultant loss of dentition
(Mason, 2003). Microstomia means that dental
access is poor and dental treatment may have to
be carried out by a specialist practitioner under
general anaesthetic.
Loss of teeth makes mastication difficult
and dentures are contraindicated because of
potential damage to fragile gums, although
more recently dental implants have been shown
Figure 6. Chronic wound to the back in recessive
dystrophic epidermolysis bullosa.
Figure 7. Chronic wounds of many years duration in
recessive dystrophic epidermolysis bullosa.
Contractures and scarring
294
to be a solution in some cases (Penarroch et
al, 2007).
Malnutrition is common and is compounded
by increased nutritional requirements as a result
of multiple open wounds and inflammation;
the wounds bleed and exudate loss leads to a
loss of valuable nutrients (Mellerio et al, 2007).
Poor intake as a result of blistering and pain in
the mouth, and blistering and narrowing of the
oesophagus, further exacerbates the problem,
with chronic constipation being a big disincentive
to eating. All the National Care Group centres
now have an EB specialist dietician and dentist.
A soft or liquidized diet may be necessary with
supplementary feeding being common. Many
younger patients now have a gastrostomy placed
to allow for ease of supplementary feeding and
medication (Hayne et al, 1996).
Dysphagia following narrowing of the
oesophagus is treated by balloon dilatation of
oesophagus under X-ray, and may need to be
repeated regularly (Azizkhan, 2006). Gastric
reflux is a common problem exacerbating
oesophageal damage and requires preventative
management with proton-pump inhibitors
(Azizkhan et al, 2006).
Chronic constipation occurs as a result of
blistering of the anal margins, causing pain on
defecation. This can lead to the patient learning
to withhold faeces as a child, which in turn
causes poor bowel tone. Management includes
increasing dietary fibre, avoidance of drugs
known to cause constipation, such as codeine,
and the giving of appropriate laxatives (Haynes
et al, 1996; Mellerio et al, 2007). Additionally, in
some rare cases, the gut can show inflammatory
changes leading to diarrhoea and other associated
symptoms (Shah et al, 2007).
Chronic anaemia
Occurs as a result of blood loss from open
wounds, poor nutritional intake of iron and
‘anaemia of chronic disease’ (Mellerio et al,
2007). Management includes encouraging the
patient to increase their dietary iron intake
while oral iron supplementation as a liquid
may help, although poor absorption can mean
it is unsuccessful in some cases. Some patients
are reluctant to take iron as it may exacerbate
constipation. Intravenous Venofer® (SynerMed, Surrey) – a form of iron sucrose – has been
very successful in the management of anaemia
in EB although peripheral venous access is
often difficult due to scarring (Atherton et al,
1999; Mellerio et al, 2007).
Dilated cardiomyopathy
Dilated cardiomyopathy has been found in a
small number of children with severe RDEB
British Journal of Nursing, 2008, Vol 17, No 5
dermatology nursing
Figure 8. Chronic wounds in severe recessive dystrophic
epidermolysis bullosa.
Figure 9. Blistering in severe recessive dystrophic
epidermolysis bullosa.
appear little different from other wounds the
patient may have. Additionally, the tumours
have no common appearance and identification
depends upon the patient, their care team
and on the expertise of the examining EB
clinician who will be familiar with the varied
presentations of these tumours. The biopsy
specimen requires a specialist pathologist who
is able to differentiate a malignancy from the
skin pathology of EB.Treatment is surgical with
wide local excision with grafting. Adjunctive
therapies may include the use of radiotherapy
and rarely chemotherapy (Mallipeddi, 2002).
and can lead to early mortality (Sidwell et al,
2000).The aetiology is not properly understood
but possible causes are deficiencies in carnitine
and selenium, infection, chronic anaemia and/
or iron overload, occurring as part of the disease
process of severe RDEB. Management includes
regular monitoring with echocardiogram to
detect cardiomyopathy,monitoring of nutritional
status with appropriate supplementation with
prompt treatment of anaemia or iron overload
(Sidwell et al, 2000).
secondary to the chronic inflammation
and antigen stimulation seen in severe EB
(Mann et al, 1988; Gündüz et al, 2000)
n Immunoglobulin A (IgA) nephropathy
developing as a result of deposits of the
protein IgA in the glomeruli of the kidney
(Mellerio, 2007).
Obstructive uropathy commonly arises at
the vesicoureteric junction and in the urethra,
and can affect the renal function (Mann et al,
1988; Gündüz et al, 2000; Fine et al, 2004b).
Some patients will develop eroded areas in the
groin/vulval areas.These are particularly difficult
to heal because of the problems of dressing
retention and constant chafing from walking and
underwear. This, along with failure of puberty,
may affect the ability of the patient to have
a sexual relationship, although some severely
affected EB patients have become parents
(Mallipeddi et al, 2003; Lucky et al, 2007).
Pain
Osteoporosis/osteopenia
Occurs in most patients as a result of a lack
of weight-bearing exercise, and generalized
inflammation which probably increases boneturnover (Mellerio et al, 2007). Management
includes increasing weight-bearing exercise
where possible, avoidance of long-term steroid
use, and the giving of vitamin D and calcium
supplements and bisphosphonates. Dual
energy X-ray absorptiometry scans and plain
radiographs should be carried out annually
(Keane et al, 2001; Fewtrell et al, 2006).
Corneal abrasions and ulceration
Occur in some patients as a result of the
fragility of the conjunctiva and cornea. These
can be extremely painful and are managed by
nursing the patient in a darkened room with
a soft patch over the affected eye. Substantial
analgesia may be required. Prevention is the
application of lubrication and artificial tears to
the eye (Tong et al, 1999).
Genitourinary tract
Both RDEB and JEB can affect the
genitourinary tract in a number of ways,
following fragility, scarring and infection in
this area. Conditions leading to acute or
chronic renal failure in EB are:
n Glomerulonephritis secondary to streptococci
or other infection (Mann et al, 1988)
n Renal amyloidosis, which is a build-up of
abnormal protein deposits in the kidney
British Journal of Nursing, 2008, Vol 17, No 5
Pain in EB is multi-factorial and may be
as a result of chronic wounds, contractures,
osteoporosis, dental pain, pain from dysphagia
and blistering of the oesophagus, pain from
corneal ulcerations, pain on defecation and
procedural pain, e.g. at dressing changes. Careful
assessment of the type and cause of pain is
needed with referral to pain teams as required
(Herod et al, 2002; Mellerio et al, 2007).
Psychological issues
Psychological issues with depression and other
emotional issues are common in EB, with
frustration and non-concordance being a
common feature in many EB patients. Given
the severity of the disorder, with its unremitting
ability to inflict pain, suffering and disability,
this is not surprising (Lucky et al, 2007).
The added dimension of the inevitability (for
Squamous cell carcinoma
Squamous cell carcinoma is a later – and in
the severe forms, an inevitable – complication
of RDEB, with multiple primaries occurring
most notably on the bony prominences. The
cause of this is not clearly understood and
research is ongoing (Uitto et al, 2000). This
leads to a shortened life span for severely
affected individuals with tumours occurring
as early as the teenage years, although this is
rare (Ayman, 2002), with the majority of first
tumours occurring in the third or fourth decades
(Fine et al, 1999). Average prognosis is 5 years
from diagnosis of first tumour to death, despite
all treatment, and 55% of patients with severe
RDEB will die of metastatic SCC by age 40
(Fine et al, 1999); however, this is a retrospective
view and there are wide individual variations.
Constant vigilance with regular skin surveillance
in the multidisciplinary EB clinic, and early
biopsy of suspect areas is routine management.
Tumours can be extremely difficult to identify
in the EB patient, both because of the unusual
appearance of EB skin, but also because some
Figure 10. Mitten deformity or psuedosyndactyly.
Figure 11. Hand surgery to release contractures.
295
severely affected patients) of the development
of aggressive squamous cell carcinoma is a
further contributor to emotional distress. Both
psychological and pharmacological treatments
are offered. This area will be fully explored in
the third part of this series of articles.
Services for people with EB
Specialist centres housing extensive multidisciplinary teams headed by a dermatologist
can be found at St Thomas’ and Heartlands
Hospitals, Solihull (for adults), with paediatric
services provided at Great Ormond Street,
London, and Birmingham Children’s Hospitals.
These services are funded by the National
Care Group and as such there is no funding
implication for local primary care trusts when
referring patients.
Both paediatric and adult services are provided
at Edinburgh Royal Infirmary. A team of 11
specialist EB nurses covering both paediatrics
and adults are funded by the charity DebRA.
The role of these nurses is primarily the support
of patients with EB and their families in the
community. This means the team visits patients
throughout the UK and support and advise
local healthcare providers. A further five nurses
are funded through National Care Group and
carry out a role similar to the DebRA nurses.
DebRA is the national charity that supports
individual and families affected by EB, and
was founded in 1978 by a group of parents of
children born with EB. DebRA provides an
expert team of nurses and social care workers,
and both commissions and funds research
projects into the causes, care and potential
cures for EB worldwide (Hon, 2003).
Conclusion
This series aims both to inform the wider
nursing community about EB, and also dispel
the myth that ‘it’s only the skin’. ‘Inherited
epidermolysis bullosa (EB) is one of the most
devastating chronic diseases known to mankind’
(Fine et al, 2004b).The severity of the condition,
with all its complexities and the possibility that
routine care can be so damaging, provide special
challenges for nurses involved in the care of
such patients. At an emotional level nurses can
be challenged by the extreme suffering that can
be involved, and in the steady decline in patients
they may have known for many years.
All EB patients and their families benefit
from, and should be seen in, specialized centres
familiar with the many complications of EB,
and appropriate management. Much can be
done to improve the quality of life of people
affected by EB, and although a cure is not yet
possible, expert symptom management and
296
prevention of complications, leads both to
increased life expectancy and improved quality
of life, both for the individual and the family.
People living with EB, whatever the degree of
severity, do so in the community where local
services are primary in meeting their needs, and
care partnerships with the local primary
healthcare teams and the specialized centres, are
BJN
vital to good service provision.
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Key Points
nEpidermolysis bullosa (EB) is an ‘umbrella
term’ for a group of rare genetic skin
blistering disorders.
nEB is a variable disorder, but at its most
severe it is a complex condition with
many complications.
nSpecialist services are available at National
Care Group funded centres in a number of
hospitals in the United Kingdom.
nDebRA is the charity that supports both
research into the genetics of EB with the
aim of finding a cure and also specialist
nursing and social work teams.
British Journal of Nursing, 2008, Vol 17, No 5