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Pediatric Aspect of Dysphagia 151
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Table 5 Examples of observations that may relate to cranial nerve function according to Arvedson and Brodsky (2001)
Cranial
nerve
V Food on the tongue Chewing Bolus not formed
VII Sucking
IX and X Bolus into posterior part of the oral
XII Food on the tongue Refinement of the apex and protrusion Miss lateral contraction, of rise
RDTP Delayed pharyngeal phase initiation
Input Normal answer Overdrawn answer
Food on the lower lip
Smile
chamber
Labial gripping
Labial closing
Labial retraction
Swallowing reflex initiated in less than
2 seconds
Labial incontinence
Limiting or asymmetry of
moving
Incomplete
RDTP or no initiation
atrophies
• Child who cannot; this is a secondary disorder.
• Child who does not want to; this is a behavioral
disorder.
Specific therapies are as follows:
(a) Child who does not know how to: The child does
not know because of a shift of acquisition or
impossibility to train the infant in the case of
prematurity, dysmaturity, or lack of training. For
example, in the case of tracheotomy, the larynx is
deprived of sensory stimulation and the coordination of swallowing and respiration can be lost.
For enteral feeding it may be the oral sensorimotor
skills that are not trained and the lost of hunger
feeling. It is necessary to stimulate the oral
sensorimotor skills and psychological maturation.
The child has to find again pleasure in suction and
the sensation of hunger to avoid refusing food.
(b) Childwho cannot: The child cannot dobecauseof a
genetic syndrome or malformations. In the foreground are neuromotor disorders, which of are
central, peripheral, or muscular origins. According
to the lesionallevel,theremightbeweaksuctionora
lack of sucking reflex. Feeding duration is prolonged, often associated with drooling, delayed
initiation of pharyngeal swallow, and penetration.
(Table 5). There can also be craniofacial anomalies
with midline defects such as cleft palate or oropharyngeal tumor such as lymphangioblastoma. In
this case, the oral phase of swallowing is generally
disturbed and may result in airway obstruction,
requiring a tracheotomy. Finally gastrointestinal
tract disorders including motility problems may
contraindicate oral feeding and sometimes even
enteral feeding. Without appropriate stimulations,
the child will not be able to perform the necessary
experiments for a harmonious oral construction.
So it maysecondarilyhave a faultyknowledge skill.
The treatment consists in adaptational strategies to
counteract the neuromotor dysfunction or anatomical anomalies.
(c) Childwhodoes not want to: Thechilddoesnot want
to eat, or totest other texturesor tastes. This is rather
a feeding disorder. The child swallows correctly but
not for a long time, as if it were very quickly satisfied. The child refuses to continue by clamping its
mouth shut, and turning its head away when the
spoon approaches its mouth. Sometimes it may
vomit purposefully. The meal is then stopped. Oral
intakes remain insufficient. This may induce fractionation meals which can worsen GER. After
6 months it isessential in a healthychildto maintain
almost 3 h between each meal. In older children,
solid food refusal can occur for a variety of reasons,
including but not limited to airway or gastrointestinal tract factors, oral sensorimotor deficits, and
disordered parent–child interactions. The distinction has to be made between an early feeding
problem possibly amenable to education and an
entrenched eating disorder requiring systematic
diagnosis and treatment. A compartmental therapy
is indicated for the child and itsparents.Throughout
meal sessions the therapist points out to the parents
the behaviors that can reinforce food refusal. As
described by Borrero et al. (2010) these can include
attention (coaxing, threats, praise, reprimands, etc.),
escape (spoon or drink removal, allowing the child
to leave the table), and tangible delivery (switching
to a previously consumed food, toa drink following
152 P. Fichaux Bourin et al.
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Fig. 5 Decision making
Physicians, caregivers, speech therapist, dietetician, physiotherapist,
Of the
Disorder
What
Swallowing disorder
Feeding disorder
Why
Anatomical cause
Functional cause
Induced cause
How
Feeding impact
Nutritional impact
Speech acquisitions
impact
Activity limitation during mealtime
food presentation, etc.). The child trying new textures and tastes during playtime is indicated.
Swallowing and feeding disorders in a child, from
sharing the direct impact on the nourishment function
of the parents, will have repercussions on the parent–
child relationship. A holistic assessment and management of these disorders cannot be done without the
collaboration of the parents. This assessment involves
considerations of the broad environment, parent–child
interactions, and parental concerns. To be interested in
dysphagia in children is to consider the child with its
difficulties in its family circle and social environment.
It is essentialto enable thechild to progressas well with
the eating plan as in its socialization (Fig. 5).
The first support will be psychological support. The
part of the interdisciplinary team is very important:
• To explain to the parents the swallowing disorder
and the difficulties their child has
• To help them be more confident about their own
capacities to manage these difficulties
• To reassure them and to trust in their child’s
competencies.
Then there will be educational support: they have
to learn adaptational strategies, position, and broaderbased sensory and motor intervention to facilitate
meal and feeding behavior.
Interdisciplinary assessment
psychologist…
Of the
Child
Medical status
Neurodevelopmental
and psychological status
Motor skills, orthopedic conditions
Person level
Underlying deficits
Body function level
Management
Decisions about oral versus tube feeding
Adjustments of textures and consistencies
Sensorimotor intervention
Supporting parents
Of the
Child’s
environment
Child-parents interactions
Parental concerns
Social and physical mealtime
Society level
5 Summary
To summarize, management of dysphagia in infants is a
complex task based on several approaches. Indeed these
disorders affect the safety of children, the psychological
balance of parents, and the delay in developmental
milestones. Therefore, an interdisciplinary team and
recurrent assessments are necessary so as to match the
child’s development and capacities. The principal aims
are to prevent feeding and speech disorders.
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Dysphagia in Systemic Disease
https://t.me/med1917
Thomas Mandl and Olle Ekberg
Contents
1 Primary Sjögren’s Syndrome................................. 155
2 Rheumatoid Arthritis .............................................. 156
3 Scleroderma (Systemic Sclerosis) .......................... 157
4 Systemic Lupus Erythematosus ............................. 158
5 Pemphigus and Pemphigoid ................................... 158
6 Epidermolysis Bullosa Dystrophica ....................... 158
7 Lichen Planus........................................................... 159
8 Behçet Disease .......................................................... 159
9 Sarcoidosis ................................................................ 159
10 Berylliosis.................................................................. 160
11 Inflammatory Myopathies ...................................... 160
References.......................................................................... 161
O. Ekberg (&)
Department of Diagnostic Radiology,
Skåne University Hospital,
205 02 Malmö, Sweden
e-mail: olle.ekberg@med.lu.se
T. Mandl
Department of Rheumatology,
Skåne University Hospital,
205 02 Malmö, Sweden
Abstract
Systemic disease may result in dysphagia through
numerous mechanisms. For example, salivary gland
impairment may result in xerostomia, which as well
asresulting in painfulmucosalblistersandulcersmay
impair oral function. Acute or chronic inflammatory
processes may result in strictures in the esophagus
and/or pharynx. Furthermore, altered biomechanics
of oral, pharyngeal,andesophagealmusculaturemay
be found in patients with rheumatoid arthritis with
cervical spine abnormalities and in patients with
scleroderma.Finally,systemicvasculitidesinvolving
the central nervous system may result in cortical and
brainstem ischemia leading to neurological impairment hampering the swallowing process.
1 Primary Sjo¨gren’s Syndrome
Primary Sjögren’s syndrome (PSS) is an autoimmune
disease, primarily affecting the salivary and lacrimal
glands. Impaired salivary and lacrimal secretion and
mucosal dryness are the main symptoms. Nonexocrine organs, including the gastrointestinal tract and
the nervous system, may also be involved.
PSS has an increased prevalence in patients with
certain HLA-DR2 and DR3 genes. Several non-HLA
genes may also be involved, including genes coding
for cytokines and second messengers. An androgen/
estrogen imbalance may also be of importance.
PSS is a rheumatic disease with lymphocytic infiltration and hypofunction in the salivary and lacrimal
glands , resulting in dryness of the mouth and eyes,
without coexisting connective tissue disease, whereas
O. Ekberg (ed.), Dysphagia, Medical Radiology. Diagnostic Imaging, DOI: 10.1007/174_2012_584,
Ó Springer-Verlag Berlin Heidelberg 2012
155
156 T. Mandl and O. Ekberg
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secondary Sjögren’ssyndrome is whenthe syndrome is
associated with another connective tissue disease, such
as scleroderma, systemic lupus erythematosus (SLE),
or rheumatoid arthritis. Xerostomia is the most common gastrointestinal symptom in PSS patients (Türk
et al. 2005; Kjellen et al. 1986; Anselmino et al. 1997a;
Rosztóczy et al. 2001; Tsianos et al. 1986; Hradsky
et al. 1967). Esophageal dysmotility and esophageal
webs have also been reported (Anselmino et al. 1997a;
Tsianos et al. 1986; Volter et al. 2004; Palma et al.
1994; Tsianos et al. 1985). Dryness of mucous mem-
branes, due to lack of saliva, impairs swallowing by
interfering with the sliding of the bolus on the mucous
membranes. Sialometric measurementsmay be closeto
0 ml/min. Esophageal dysmotility including weak
contractions, aperistalsis, and tertiary contractions as
well as abnormal peristaltic velocity and duration are
seen in one third of PSS patients. A decrease in the
lower esophageal sphincter pressure has also been
reported (Anselmino et al. 1997b). A recent study
showed that 65% of PSS patients have dysphagia
(Mandl et al. 2007). They presented with solid and/or
liquid food dysphagia. Also, a globus feeling was
common. Other PSS patients had regurgitation and
pyrosis. Some PSS patients had misdirected swallowing leading to coughing after swallowing, and haw
king when eating. Others had experienced episodes
of obstruction when swallowing. Many dysphagic
patients had an increased liquid intake during eating.
In PSS patients a sialometric evaluation is of value
(Liquidato and Bussoloti Filho 2005). Evaluation of
pharyngeal and esophageal function is best done with
barium swallow or fiber-endoscopic examination.
Manometry of the esophagus can also be of value.
Treatment in PSS patients is in most cases symptomatic and local, aiming at reducing the symptoms
and consequences of dryness. However, in some cases
treatment may be systemic, including use of pilocarpine and cevimeline. These drugs stimulate the M3
receptors, causing an increased salivary flow. However, side effects of M3R stimulation may be
abdominal distress, irritable bladder, and sweating
(Thanou-Stavraki and James 2008). The use of biological agents is currently restricted to patients with
severe nonexocrine disease, in whom especially
B-cell-targeted biologicals, such as rituximab, have
shown promising results (Ramos-Casals and BritoZerón 2007). The most important treatment is local,
including an increased water intake in order to
lubricate the dry mucosal surface. Lozenges and
chewing gum stimulate the secretory function even in
hypofunctioning salivary glands. Good dental hygiene
is most important, since lack of saliva leads to tooth
decay.
2 Rheumatoid Arthritis
Rheumatoid arthritis is an autoimmune disorder that is
characterized by small joint synovitis resulting in
swelling, pain, stiffness, and loss of function. Permanent damage to cartilage as well as bones and surrounding tissue may occur. The pathogenesis is
multifactorial, and both genetic and environmental
factors, especially smoking, are of importance for both
the development and the severity of the disease. Lymphocytes activated bycytokinessuch as TNF invadethe
synovia and result in a swelling of the synovia and
pannus formation. The disease may result in swallowing difficulties through various mechanisms. For
example, temporomandibular joint involvement may
cause mastication problems. Swelling of synovial
membranes in the cricothyroid and cricoarytenoid
joints may cause dysphagia (Chen et al. 2005). Medullary compression may result from subluxation of the
atlantoaxial joint, causing brainstem compression by
the odontoid process. The subluxation of the atlantoaxial joint may also cause altered biomechanics of the
swallowing musculature.Pannus located inthe anterior
cervical spine may cause compression of the cervical
esophagus. In addition, xerostomia may also occur in
many patients with rheumatoid arthritis. In patients
with juvenile rheumatoid arthritis, dysphagia may be
due to micrognathia(Lindqvist et al. 1986;Ekberg et al.
1987). Dysphagiain rheumatoidarthritis may be dueto
dry mouth, delayed initiation of pharyngeal stage of
swallow, and painful swallow (Geterud et al. 1991; Erb
et al. 2001; Sun et al. 1974; Ekberg et al. 1987). The
clinical evaluation includes imaging and should be
done with a broad approach. Early initiation of treatment is important in rheumatoid arthritis patients. Of
disease-modifying antirheumatic drugs (DMARDs),
methotrexate is the most commonly used. Early initiation of treatment with DMARDs improves the prognosis and stops or delays the joint destruction process
that otherwise is a consequence of the disease. In
patients where there is an inadequate response to the
first-line DMARDs, a combination of older DMARDs
Dysphagia in Systemic Disease 157
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Fig. 1 A patient with
scleroderma. The esophagus
is dilated owing to
insufficiency of the lower
esophageal sphincter that
causes reflux. Acid reflux
has caused a stricture in the
distal esophagus seen in the
single-contrast esophagram in
(a) and in the double-contrast
esophagram in (b). (Courtesy
of Francis J. Scholz,
Department of Diagnostic
Radiology, Lahey Clinic,
Burlington, MA, USA)
may be used or biological DMARDs may be used,
of which TNF-a blockers are the most widely used.
Corticosteroids and NSAIDs are today mainly used to
alleviate symptoms while waiting forDMARDs to start
exerting their effect, which may take a couple of weeks
after treatment has started. Xerostomia usually causes
increased waterintake. Chewing gum and lozenges can
have a beneficial effect. Other dysfunctions may be
treated withdirect or indirect therapies according to the
underlying cause.
3 Scleroderma (Systemic Sclerosis)
Scleroderma, or systemic sclerosis (SSc), is a disorder
resulting in functional and structural abnormalities of
small blood vessels as well as leading to fibrosis of
the skin and internal organs. The cause is unknown.
Affected tissues show varying degrees of inflammation, fibrosis, and atrophy. The cutaneous lesions
often appear symmetrically on the distal extremities
and sometimes also on the truncal skin. Patients may
show early involvement of internal organs. Raynaud’s
phenomenon is common. Findings of antinuclear
antibodies with a centromere pattern as well as antiScL-70 antibodies support the diagnosis. Sclerosis of
oral mucosa and masticatory muscles and salivary
gland involvement may result in impaired mouth
function and dysphagia (Ntoumazios et al. 2006; Rout
et al. 1996). Microstomia, i.e., fibrosis of the perioral
tissue, leads to a small mouth, which is a classic
finding of SSc (Pizzo et al. 2003; Menditti et al.
1990). Progressive destruction of smooth muscle
in the esophagus leads to abnormal peristalsis or
even aperistalsis. Usually, the tonicity in the lower
esophageal sphincter is zero, leading to massive
gastroesophageal reflux disease (GERD). Therefore,
extensive fibrosis and strictures are common findings
in these patients (Fig. 1).
Dysphagia is commoninSSc patients. Intakeoffood
is difficult owing to microstomia. Dysphagia is also
caused by perioral muscle stiffness in the cheeks and
tongue. Decreased elasticity is present in masticatory
muscle. Decreased salivary production leads to xerostomia, i.e.,secondary Sjögren’s syndrome. Symptoms
from esophageal dysfunction are also common. In
patients with esophageal strictures, the characteristic
symptom is obstruction ofsolid foods. The stomachand
small bowel may also be involved, resulting in
impaired transportation at various levels. Therefore,
some of these patients have a very complex set of
symptoms. In patients with discrete skin lesions, the
diagnosis may be very difficult. In such cases, nail
capillary microscopy can be of help in diagnosing the
disease. If there aregastrointestinal symptoms, a biopsy
can be of value and may show signs of degeneration of
smooth muscles and fibrosis. It is important to bear
GERD in mind and to do a barium examination of the
esophagus and/or gastroscopy.
Current therapies for SSc are still disappointing
and mainly consist of symptomatic treatment of the
consequences of the disease. Various vasodilatory
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drugs such as gastrointestinal prokinetics and proton
pump inhibitors are used. In addition, cyclophosphamide is used for the treatment of concomitant interstitial lung disease. No specific treatment is available
for muscle fibrosis and muscle degeneration. It is very
important to keep in mind that patients with GERD
should be treated vigorously in order to avoid the
development of strictures.
4 Systemic Lupus Erythematosus
Systemic lupus erythematosus (SLE) is an inflammatory, progressive systemic disease of connective
tissue with an autoimmune cause and commonly
affects the skin and various internal organs (Virella
1993; Goust and Tsokos 1993). Both antinuclear
antibodies and the more specific anti-double-stranded-DNA antibodies may be found in patients with
this systemic disease. Classically, patients present
with a butterfly-shaped malar rash and photosensitivity, i.e., skin rash due to exposure to sunlight.
Butterfly-shaped malar rashes usually appear on the
cheeks and nose bilaterally in patients with SLE. The
patients may present with oral and/or pharyngeal
ulcers. Ulcers may also appear on the palate. Xerostomia appears when the salivary glands are involved.
Dysphagia is present in 10% of patients with SLE
(Pope 2005). Erythematous oral ulcers and xerostomia are usually the result of salivary gland involvement. Pharyngeal ulceration may extend into the
nasopharynx and even into the larynx. Gastrointestinal dysmotility may include the esophagus but also
the stomach and small bowel. This dysmotility may
be caused by submucosal fibrosis. Cerebrovascular
complications are not uncommon in patients with
SLE and may cause motor and sensory impairment.
The trigeminal and facial nerves may be involved.
Assessment of the swallowing function is done with a
thorough clinical examination and may also include
barium swallow or fiber-endoscopic examinations.
Endoscopy is used for assessment of mucosal lesions.
Treatment of SLE includes antimalarials and corticosteroids as well as various more potent immunomodulating drugs. In the era of biological treatments,
B-cell-targeting therapies have shown beneficial
effects in SLE patients. Other than the treatments used
for specific dysfunctions, there is no specific treatment for swallowing impairment in SLE patients.
5 Pemphigus and Pemphigoid
Bullous pemphigoid is a subepidermal blistering skin
disease of chronic character. The disease may also
involve mucous membranes. Acantholysis is present
in pemphigus but not in pemphigoid disease. Pemphigus and pemphigoid are both autoimmune diseases. Pemphigus has antibodies directed against
desmosomes, whereas pemphigoid has antibodies
directed against hemidesmosomes. These antibodies
bind to their antigens and cause blistering by separation of the dermis and epidermis. The mucosa in the
mouth and pharynx may also be affected (Yeh et al.
2003; International Pemphigus and Pemphigoid
Foundation 2011). Mucosal abnormalities cause
odynophagia, i.e., painful swallowing. Ruptured
blisters may be secondarily infected, which aggravates the pain. Submucosal infection may cause
fibrosis and strictures. Endoscopy and radiologic
swallowing studies are often necessary in order to
detect pharyngeal and esophageal involvement in the
form of webs and/or strictures. Advanced diseases are
treated with corticosteroids and immunosuppressive
agents. Good oral hygiene is most important, since
secondary infections must be prevented. When there
is severe mucosal involvement, eating hard and
crunchy foods, chips, raw fruits, or vegetables may be
very painful. Local steroids can be of value.
6 Epidermolysis Bullosa Dystrophica
Epidermolysis bullosa dystrophica is an inherent
autoimmune disease affecting the skin and the mucosa
of the oropharynx. The cause is a genetic defect
within the human COL-7A-1 that encodes the production of collagen. Collagen VII forms the structural
link between the epidermal basement membrane and
the collagen fibrils in the upper dermis. Sloughing of
the mucosa causes ulcers that are easily infected and
painful. Even though the oral mucosa is mostly
affected, laryngeal, esophageal, and conjunctival
mucosa can be involved. The blisters, erosions, and
ulcers may lead to scars, webs, and strictures. It has
even been reported that esophageal shortening can be
caused by such scarring. This may cause hiatal hernia
and GERD (Agah et al. 1983). The patient’s symptom
is by and large odynophagia.
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Topical steroids are often used. Endoscopic dilatation may be necessary if esophageal strictures
develop.
7 Lichen Planus
Lichen planus is a chronic mucocutaneous disease
that causes papules or rashes involving the skin and
mucous membranes but also the nails and genitals. It
is likely to be an autoimmune disease that involves
CD4+ and CD8+ T lymphocytes. Parakeratosis is
present as well as atrophy of the esophageal epithelium. Strictures may have an appearance similar to
those in GERD. The strictures are, however, localized
in the proximal esophagus. This should raise the
suspicion of the cause (Chandan et al. 2008;
Madhusudhan and Sharma 2008; Sugerman and
Porter 2010; Katzka et al. 2010). Endoscopically
elevated lacy white papules, esophageal webs, and
pseudomembranes are present. Erosions with and
without stenosis may also be present. Strictures are
present in advanced cases. Even though the disease is
most frequent in the proximal and mid esophagus, the
whole esophagus may be involved. The lichenoid
lesions may be painful. Odynophagia may occur from
lesions in both the oral cavity and the esophagus.
Odynophagia is common for solids. Spicy food and
liquids may cause pain.
Therapeutic options include systemic corticosteroids, cyclosporine, and azathioprine. Local steroids
can be used. Endoscopic dilatation of strictures is
usually needed.
8 Behc¸et Disease
Behçet disease is a vasculitis characterized by
aphthous ulcers in the mouth and on the genitals. In
addition, various skin lesions, e.g., erythema nodosum
and folliculitis, eye lesions, arthritis, venous thrombosis in various locations, and CNS involvement may
be encountered in these patients. The prevalence of
the disease is highest in the eastern Mediterranean,
the Middle East, and East Asia. In addition, the
HLA-B51 gene has been reported to be a strong risk
factor for the disease. The vasculitis causes recurrent
oral and genital ulcers. Uveitis, erythema nodosum,
folliculitis, thrombophlebitis, venous thrombosis,
meningitis or CNS vasculitis as well as arthritis may
also be present (Brookes 1983; Levack and Hanson
1979; Demetriades et al. 2009; Messadi and Younai
2010). The ulcers are found on lips, tongue, and on
the inside of the cheeks. Aphthous ulcers may occur
as single lesions or in clusters. They may even be
found in the esophagus. Ulcers in the oral cavity and
mucosa and esophagus are often painful. These ulcers
may be provoked by slight trauma. Treatment of the
mucosal ulcers includes colchicine, whereas more
systemic disease is treated with steroids and various
immunomodulatory drugs. Good oral hygiene is
important to prevent secondary infection of the ulcers.
Strong-tasting food should be avoided as it may cause
pain.
9 Sarcoidosis
Sarcoidosis is a granulomatous disease characterized
by noncaseating epithelioid granulomas. The lungs
and mediastinum are predominant locations,
although virtually most other organs may be affected, including the gastrointestinal tract. An autoimmune cause has been suggested. A reduced delayedtype hypersensitivity response is found in many
patients with sarcoidosis. The epitheloid granulomas
may occur in the mucosa, where they cause superficial nodules and ulcerations that may be painful.
Larger granulomas may cause irregular strictures
which cause obstruction. They may be difficult to
distinguish from malignant strictures on radiologic
examination as well as on endoscopy (Bredenoord
et al. 2010). Oral sarcoidosis may cause odynophagia. Also, esophageal involvement may be painful
since esophageal strictures may cause obstruction of
a solid bolus. Diagnosis is made by fiber endoscopy
and/or barium/iodine contrast medium radiologic
evaluation. A solid bolus test should usually be
included (Levine et al. 1989; Hardy et al. 1967;
Cook et al. 1970).
Oral corticosteroids are usually effective. Advanced
disease can be treated with various immunomodulatory drugs and in severe refractory cases also with
infliximab, a TNF-a blocker. Local steroids can be
used in the treatment of oral mucosal involvement.
Esophageal strictures can be treated with balloon
dilatation or may at times have to be surgically
resected.
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Exposure to beryllium occurs particularly in
miners. Other people are exposed in a variety of
industries: aerospace, ceramics, dental supplies. The
window in X-ray tubes often contains beryllium.
Beryllium exposure occurs primarily by inhalation
of beryllium fumes or dust, but even contact through
broken skin may occur. Most beryllium is excreted in
urine, and the primary half-life ranges from several
weeks to 6 months. Relatively insoluble chemical
forms of beryllium may be retained for years.
After inhalation of beryllium, large numbers of
CD4+ T lymphocytes accumulate in the lungs. These
helper T lymphocytes demonstrate a marked prolif-
Fig. 2 An 82-year-old patient with berylliosis. CT of the upper
thorax shows extensive fibrosis with calcifications in the upper
lobes and in the mediastinum. In a patient like this, the
esophagus is often encroached by the large lymph nodes.
(Courtesy of Francis J. Scholz, Department of Diagnostic
Radiology, Lahey Clinic, Burlington, MA, USA)
eration response on exposure to beryllium. Beryllium
seems to induce production of proinflammatory
cytokines and growth factors that lead to granuloma
formation.
Management of CBD includes cessation of beryllium exposure and the use of systemic corticosteroids.
However, once pulmonary fibrosis has developed,
10 Berylliosis
corticosteroid therapy cannot reverse the scarring of
lung tissue (Flors et al. 2010; Sood 2009).
Berylliosis, or chronic beryllium disease (CBD), is an
immunologically mediated granulomatous lung disease due to beryllium sensitization (Flors et al. 2010).
11 Inflammatory Myopathies
CBD is characterized by abnormal formation of
inflammatory noncaseating granulomas that causes
widespread scarring and most commonly interstitial
pulmonary fibrosis. Mediastinal lymph nodes are also
involved. A granuloma development may also occur
in other organs, including extrapulmonary lymph
nodes, skin, subcutaneous tissue, salivary glands,
myocardium, liver, and skeletal muscle. Beryllium is
a light-weight metal with variable physical and
chemical properties that include stiffness, corrosion
resistance, and electrical and thermal conductivity.
Genetic predispositions seem to have a major role in
the development of CBD. A variant of the major
histocompatibility complex HLA-DPb1(Glu 69) has
been found in many patients (Richeldi et al. 1993).
The symptoms of CBD are dry coughing, fatigue,
weight loss, chest pain, increasing shortness of breath,
and sometimes also dysphagia due to lymph node
impingement on the esophagus. CBD has many
similarities with other granulomatous diseases such as
tuberculosis, syphilis, and fungal infection. The
symptoms are mainly due to extrinsic compression
of the esophagus leading to solid bolus dysphagia
(Fig. 2).
Inflammatory myopathies include polymyositis, dermatomyositis, and inclusion body myositis (IBM)
(Bella and Chad 1996). These inflammatory myopathies are characterized by mononuclear inflammatory
cell infiltrates, myofibrillar necrosis, and regeneration.
In polymyositis, T-lymphocyte cells, monocytes, and
plasma cells are located in fascicles within the endomysial connective tissue. Dermatomyositis is characterized by the presence of atrophic fibres in the
periphery of the fascicles. Unlike in polymyositis, the
inflammatory cells are localized in the perivascular
area and in the perimysial connective tissue and not in
the endomysium. Microvascular changes are also
common. Similarly to polymyositis, in IBM inflammatory cells are located in the endomysium. Patients
with polymyositis, dermatomyositis, and IBM
develop symmetric proximal muscle weakness.
Muscle biopsy shows myositis. Patients also have
elevated levels of serum creatine phosphokinase.
Atypical EMG findings are also seen. In patients with
dermatomyositis, there is also a characteristic skin
involvement in the form of heliotrope exanthema or
Gottron’s papules on the knuckles.
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