Transcript Nasal Manifestations of Systemic Disease

NASAL MANIFESTATIONS OF
SYSTEMIC DISEASE
Amir .A. Kargoshaie MD
1
Systemic diseases can affect the nasal airway and paranasal
sinuses in both specific and nonspecific ways.
In some cases, the nasal findings may be the first indication of systemic disease.
Nasal manifestations of systemic diseases often present with symptoms of
chronic rhinosinusitis that either does not respond or only minimally responds
to standard treatments.
Systemic diseases that affect the nasal airway can produce
pathologic changes in three general ways.
1---the general pathophysiology of the disease may affect the tissues of the nose,
as in recurrent or severe epistaxis secondary to a coagulopathy.
2--the unique mucosal histology of the nose may make
an otherwise minor pathologic process more severe and apparent, as seen in
hereditary hemorrhagic telangiectasia. In this particular disease, telangiectasia
causes few symptoms in the skin, but in the superficial, easily traumatized vessels
of the nasal mucosa, severe epistaxis may occur
3--a systemic disease may affect the tissues of the nose as part of a
symptom complex, as seen in Wegener granulomatosis (WG).
2
GRANULOMATOUS DISEASE
Several granulomatous diseases have a predilection to involve tissue in the
airways. They include :
WG, Churg-Strauss syndrome, sarcoidosis.
These diseases are often characterized by a local inflammatory response in the
airways, particularly in the upper nasal passages.
WG is perhaps the most common granulomatous disease to affect the upper
airway and the nasal airway in particular.
Although much less frequently found to involve the nasal airway,
sarcoidosis and
Churg-Strauss syndrome also have characteristic findings that may permit
earlier diagnosis.
3
WEGENER GRANULOMATOSIS
4
WEGENER GRANULOMATOSIS
Friedrich Wegener first clearly defined WG in 1939 as a systemic disease characterized by
necrotizing granulomas with vasculitis of the upper and lower respiratory tract,
systemic vasculitis, and
focal necrotizing or proliferative glomerulonephritis.
The classic triad of WG involves :
upper respiratory tract, lungs,
kidneys.
Formerly, WG was often confused with several other entities that cause midline granulomas
or midface destruction; including
lymphomas,
carcinomas,
infectious processes.
WG must also be differentiated from other causes of granulomatous rhinosinusitis, such as
traumatic granulomas and cocaine-induced lesions.
WG can now be easily separated with more precise nasal biopsies, histopathologic
examination, and the cytoplasmic antineutrophilic cytoplasmic antibody ( c-ANCA) test.
5
prevalence of WG is estimated to be 3
mean age at diagnosis is
cases per 100,000,
55
Men = women
more than 90% of all patients with WG are white.
1% to 4% of patients are African-American, Hispanic, or Asian.
Rhinologic symptoms of patients with WG may include
nasal congestion,
rhinorrhea,
anosmia.
These symptoms may progress to
rhinitis,
sinusitis,
septal perforation, and/or
nasal airway stenosis.
Nasal endoscopy typically reveals mucosal cobble stoning, edema, and crusting.
Because of the nonspecific nature of many of the symptoms of WG, diagnosis and
treatment may be delayed even by specialists.
6
Clinical features of WG can be divided into three categories.
type 1 WG come to medical attention with a limited form of the disease,
characterized by upper airway symptoms and few systemic findings. They typically
are seen after several weeks of symptoms similar to those of an upper respiratory
tract infection but that are unresponsive to antibiotics,
is often associated with nasal pain, serosanguinous rhinorrhea, and crusting.
type 2
sicker and are seen initially with systemic features, although
these are not as severe as those seen with type 3 disease.
The initial presentation of type 2 WG is similar to that of type 1: a characteristic
prolonged upper respiratory tract infection with a continued nasal discharge that
progresses to nasal pain, tenderness, serosanguinous discharge,
ulceration, and crusting.
Pulmonary involvement is often present and is associated with a cough,
hemoptysis, and cavitary lesions on chest radiography.
Type 3 WG is a widely disseminated form of the systemic disease and commonly
consists of upper and lower airway involvement, cutaneous lesions, and
progressive renal involvement. Systemic features are more profound and, as with
type 1 and type 2 disease, nasal ulcerations and symptoms are present.
7
8
Diagnosis
clinical diagnosis of WG is suggested by history and characteristic nasal findings.
Laboratory values that are often abnormal in WG include the
erythrocyte sedimentation rate
hemoglobin,
serum creatinine,
serum c-ANCA levels
These serologic findings + nasal biopsy  definitive diagnosis of WG
Immunofluorescence
antiproteinase-3 (anti-PR3) ANCAs  antimyeloperoxidase antibodies
pattern of staining.
The cytoplasmic pattern is seen with ANCAs for anti-PR3,
the perinuclear pattern is seen with ANCAs for antimyeloperoxidase
The characteristic pattern of coarse granular staining of c-ANCAs is caused by antibodies
against proteinase-3 and neutral serine protease present in the azurophilic granules of
neutrophils.
c-ANCA highly sensitive , but negative result does not exclude the diagnosis
specificity of c-ANCA in some cases preclude biopsy
c-ANCA titer may be used to monitor disease activity, because a rise in the titer
may be predictive of a relapse of disease, although this concept remains controversial.
However, it is clinically appropriate to interpret an increase in c-ANCA titer as an indicator to
closely monitor the patient for signs of relapse.
9
Nasal biopsy
local anesthesia and/or intravenous sedation
supportive evidence for the diagnosis
All visible nasal crusts must be removed, followed by liberal removal of tissue from
the septum, nasal floor, and turbinates in order to provide ample tissue for stains
and culture.
Culture is necessary to rule out granulomatous infectious agents such as fungi and
mycobacteria.
Pathology
vasculitis of medium and small vessels with intramural, eccentric, necrotizing
granulomatous lesions.
Typically, arteries, arterioles, capillaries, venules, and veins are involved, but large
vessels are rarely affected.
Microabscesses that enlarge and coalesce into larger necrotic areas may also be
present.
10
11
Treatment
multiorgan involvement  best treated by a team of physicians
Treatment algorithms based on disease severity and the organ system affected.
immunosuppression induce remission, then dosages adjusted to maintain the
remission.
The main agents used to induce remission
cyclophosphamide,
methotrexate,
and/or glucocorticoids.
Cyclophosphamide alkylating agent  impairs DNA replication and transcription
oral administration of 2 mg/kg per day with a maximum dose of 200 mg/day.
continued for 6 months to 1 year, then tapered gradually after the disappearance of
symptoms.
Methotrexate alternative to cyclophosphamide in patients with limited forms of
WG, such as type 1 disease.
antimetabolite and inhibits dihydrofolate reductase impair folate metabolism.
standard dose begins at 0.25 mg/kg/week, which can be increased to 25 mg/week
continued for 1 year, although it may be continued indefinitely, the dosage may be
tapered, or the drug may be stopped abruptly.
Glucocorticoids are given concurrently, whether cyclophosphamide or methotrexate
is used. starting dose prednisone 0.5 to 1.0 mg/kg/day up to a maximum
of 80 mg/day.
Dosage tapering may begin after 1 month with the goal to discontinue the agent
12
completely within 6 to 9 months.
After the symptoms are stabilized,  trimethoprim-sulfamethoxazole
mechanism of action unknown prevents relapses, minimal side effects.
New therapeutic agents have been shown to be promising in resistant cases.
Rituximab, a chimeric monoclonal antibody against the protein CD20 on B-Cells,
has been reported to be effective in treating resistant WG.
Mycophenolate mofetil {CellCept(Roche)},, a prodrug that suppresses guanine
synthesis in lymphocytes by inhibiting inosine monophosphate dehydrogenase and
blocking DNA synthesis and proliferation, has also been shown to reduce remission
in patients who cannot be treated with cyclophosphamide.
Surgical reconstruction may be used to restore function
once the disease is in remission, and it includes
correction of saddle nose deformity
septal perforation repair;
functional endoscopic sinus surgery may benefit selected patients with
chronic nasal crusting
Saline irrigations with or without antibiotics are essential to management, although
nasal debridement may be helpful with mucosa-sparing techniques and
13
frequent postoperative care to minimize scar formation.
SARCOIDOSIS
14
SARCOIDOSIS
chronic, systemic granulomatous disease capable of involving almost any organ in
the body.
frequently involves the lymphatic system, lungs, liver, spleen, and bones.
involvement of the epithelium of the upper respiratory tract uncommon, nasal
symptoms may be the first manifestation of this disease.
etiology unknown
various infective agents, chemicals (including beryllium and zirconium), pine pollen,
and peanut dust.
cell-mediated and humoral immune abnormalities
worldwide distribution incidence is higher in northern Europe, the southern
United States, and Australia.
most commonly between the ages of 20 and 40 years
Women slightly >men,
10 to 20 times more prevalent in blacks than whites
clinical course in most cases  benign spontaneous resolution within 2 years,
10% of cases may progress to pulmonary fibrosis
The lung is the primary organ affected by sarcoidosis, and 90% of patients have
evidence of thoracic involvement, either enlarged intrathoracic lymph nodes or
pulmonary parenchymal infiltrates
40% of patients have granulomatous changes
15
in extrapulmonary organs.
nose and paranasal sinuses sarcoidosis  relatively infrequent
most reports anecdotal
the true incidence of nasal involvement  not known with certainty.
The observed incidence of histologically confirmed nasal involvement in large
populations of patients with sarcoidosis has ranged between 1% and 6%
most common symptom of nasal involvement  nasal obstruction
epistaxis, dyspnea, nasal pain, epiphora, and anosmia
Nasal sarcoidosis commonly affects the mucosa of the septum and inferior
turbinate. The nasal mucosa is usually dry and friable with crusting
Submucosal nodules yellow color macroscopic presentation of intramucosal
granulomas biopsy specimens
In more advanced disease irregular polypoid mucosa friable ,bleeds readily.
More severe infiltration septal perforation or even oronasal fistulae.
Paranasal sinus involvement often accompanies nasal mucosal involvement
Mucous membrane thickening or opacification of paranasal sinuses occurs
Some patients with nasal sarcoidosis  bony lesions of the nasal bones; such
lesions are a response to granulomas within the bone and may appear as
scattered regions of osteoporosis or zones of frank destruction
The suture lines may disappear, but no periosteal reaction is seen.
16
17
Diagnosis
combination of histologic, +radiographic,+ immunologic, + biochemical data
The diagnosis of sarcoidosis of the nose and paranasal sinuses
based on the clinical findings of crusting, friable nasal mucosa with either
polypoid changes or characteristic yellowish submucosal nodularity
Sinus computed tomography (CT) and radiography findings are abnormal in most
cases of nasal sarcoidosis.
Pulmonary findings of either hilar lymphadenopathy or pulmonary fibrosis are
common.
Radioactive gallium uptake may be increased in the nasal mucosa in sarcoidosis.
elevation of serum or urinary calcium support sarcoidosis
Serum angiotensin-converting enzyme (ACE) elevations  83% of patients with
active sarcoidosis has become very useful for the diagnosis and for monitoring
for relapse
ACE values can also be elevated in tuberculosis (TB), lymphoma, leprosy,
and Gaucher disease;
The diagnosis of sarcoidosis is confirmed by the presence of noncaseating
granulomas composed of multiple epithelioid cells and Langerhans giant cells
in the nasal mucosa.
Negative stains for fungus and acid-fast bacilli help to support the diagnosis.
18
Pathology
Multiple noncaseating
granulomas
The sarcoid granuloma consists of a
central area of tightly packed
epithelioid cells surrounded by
lymphocytes and fibroblasts.
Multinucleated giant cells up to
150 µm in diameter are frequently
found within granulomas.
No histologic feature is specific for
sarcoidosis, and similar
granulomas occur in :
tuberculosis, berylliosis, leprosy,
hypersensitivity pneumonitis, fungal
disease, and chronic inflammatory
Processes.
19
Treatment
Most cases of stage I sarcoidosis undergo spontaneous remission within 2 years
without specific treatment.
Sarcoidosis beyond stage I with elevated ACE values or extrapulmonary
involvement usually requires treatment; this statement applies to most cases of
nasal sarcoidosis.
Nasal symptoms nasal saline irrigations and topical nasal steroids.
Secondary infections  culture-directed antimicrobial therapy.
Surgery may be beneficial for symptomatic nasal obstruction or chronic
sinusitis in selected patients. Although these therapies do not
treat the underlying condition, they may improve symptom severity and decrease
the need for systemic therapy.
The mainstay of treatment for sarcoidosis is systemic corticosteroids.
The majority of patients’ symptoms can be controlled with oral prednisone in doses
of 10 to 40 mg daily.
If nasal symptoms relapse while a patient is taking relatively high systemic doses
of corticosteroid, local treatment with intranasal steroids may be used to allow
reduction in the oral dosage.
Methotrexate has been used to treat nasal sarcoidosis successfully at a dose of 30
mg weekly.
methotrexate considered only systemic corticosteroids is contraindicated,
20
because its effectiveness in sarcoidosis has not been extensively tested.
CHURG-STRAUSS SYNDROME
Churg-Strauss syndrome (CSS), also known as allergic granulomatous angiitis,
affects small to medium-sized vessels
men =women mean age of 50 years
CSS has been found to be genetically associated with HLA-DRB4.
It is a granulomatous vasculitis characterized by the triad of
bronchial asthma, eosinophilia, and
systemic vasculitis.
CSS consists of three phases:
1) a prodromal phase with allergic rhinitis and asthma,
2) an eosinophilic infiltrative phase with chronic eosinophilic pneumonia
(Loeffler syndrome) or gastroenteritis,
3) a systemic, life-threatening vasculitis with granulomatous inflammation
CSS is associated with nasal crusting and polyposis and may be distinguished
from WG by the presence of both nasal polyps and asthma in CSS.
The c-ANCA test result is also negative in CSS, although perinuclear antineutrophil
cytoplasmic antibodies (p-ANCAs) are found in 70% of patients.
CSS may be distinguished from sarcoidosis by the presence of asthma,
eosinophilia, and vasculitis with necrotizing granulomas, all of which are absent in
Sarcoidosis.
21
Pathology
Histopathologically, CSS is characterized by
necrotizing vasculitis of small and medium-sized vessels.
Necrotizing extravascular granulomas may also be present, and
eosinophilia of the vessels and perivascular tissue is prominent.
Treatment
The treatment is similar to that of WG.
Glucocorticoids continue to be standard treatment for CSS,
although cyclophosphamide may be helpful in life-threatening cases or in patients
with poor prognostic factors.
Newer target approaches have more recently been investigated.
Rituximab, a B-cell–depleting monoclonal antibody, has been used with
favorable responses in patients with CSS refractory to conventional treatments.
22
AUTOIMMUNE AND INFLAMMATORY DISEASE
Autoimmune and inflammatory diseases may also affect the nasal cavity.
Most notably, relapsing polychondritis may affect the cartilaginous nose,
whereas polychondritis of the skin of the nose and nasal vestibule may be a
late manifestation of systemic lupus erythematosis.
Sjögren syndrome is a systemic chronic inflammatory disease that affects
exocrine glands. It typically presents with xerophthalmia, xerostomia, and
parotid gland enlargement. Patients with Sjögren syndrome may come
to medical attention with nasal dryness that leads to crusting and epistaxis.
23
RELAPSING POLYCHONDRITIS
Relapsing polychondritis (RP)  rare rheumatologic disease of unknown etiology that results in cartilaginous inflammation.
RP typically occurs in the fourth decade
men =women
The incidence is estimated to be 3 cases per 1 million people.
half of the patients with RP come in with either auricular chondritis or
arthropathy, but with time, most patients develop multisystem involvement.
RP most commonly cartilage of the ears, nose, respiratory tract, and joints;
Systemic manifestations typically include auricular chondritis, audiovestibular
damage, polyarthritis, nasal chondritis, laryngotracheal chondritis,
ocular inflammation, and cardiovascular vasculitis.
The cause of death in the majority of these patients is secondary to respiratory tract
or cardiovascular involvement.
Nasal manifestations typically include crusting, rhinorrhea, and epistaxis.
An insult that induces exposure of cartilage and leads to an inflammatory response
initiates these symptoms.
Chronic inflammation may cause cartilage destruction that results in septal
perforation, which may lead to saddle nose deformity.
24
Diagnosis
McAdam and colleagues first described diagnostic criteria for RP, which require three or
more of the following to be present in combination with histologic confirmation:
1) bilateral auricular chondritis,
2) nonerosive seronegative inflammatory polyarthritis,
3) nasal chondritis,
4) ocular inflammation,
5) respiratory tract chondritis, and
6) audiovestibular damage.
Kent add the need for histologic findings of chondritis at two or more anatomic locations
with response to steroids.
Laboratory results nonspecific for RP, but markers of inflammation such as erythrocyte
sedimentation rate, C-reactive protein, and antinuclear antibodies may be abnormal.
A genetic association has been found between RP and HLA-DR4,
Pulmonary function testing, chest radiography, echocardiography, CT, and magnetic
resonance imaging may be helpful in determining the diagnosis and extent of the disease.
Pathology
critical for the diagnosis chondrolysis, chondritis, and perichondritis. infiltrate of
lymphocytes, neutrophils, and plasma cells may be apparent in the perichondrium.
With further cartilaginous destruction, macrophages infiltrate.
Once the cartilaginous architecture is destroyed, it is replaced by fibrous connective tissue.
Treatment
Secondary to the systemic involvement and aggressive behavior, immunosuppressive
therapy is often indicated. The medical management consists of corticosteroids and cytotoxic
medications. Surgical management depends on the organ system involved, and surgery is
directed at the organ system and may consist of aortic repair or airway reconstruction.
25
NEOPLASTIC DISEASES
The most notable nasal T-cell lymphoma.
Leukemia and B-cell lymphomas may also have nasal manifestations,
B-cell lymphomas may manifest as unilateral nasal obstruction by an enlarged
nasal or nasopharyngeal mass.
Acute leukemia may manifest as symptoms of an upper respiratory infection or as
epistaxis secondary to friable mucosa in the anterior nose.
T-CELL LYMPHOMA
Previously midline malignant reticulosis or polymorphic reticulosis, a rare
disease that can be difficult to diagnose.
The rate of long-term remission is low in patients with this disease; and 50% die
from distant extranodal spread or from relapses outside the treatment field.
Nasal T-cell lymphomas differ phenotypically from lymphomas of the paranasal
sinuses and in the Waldeyer ring, which tend to be of B-cell origin.
Diagnosis
nasal obstruction purulent rhinorrhea and serosanguinous discharge.
As symptoms progress, usually unilateral mucosal ulceration with extension into the
palate, maxillary sinus, and upper lip helps distinguish lymphoma from
WG, which is associated with diffuse nasal mucosal ulceration.
Mucosa is often pale and friable, and extensive crusting is often present. Oronasal
fistulae often occur, as do nasal septal perforations, which have been reported in
26
40% of cases of nasal T-cell lymphoma.
Typically, unilateral involvement of one side of the nose, face, palate, and/or orbit
is explosive; systemic symptoms are more notable in advanced cases and include
malaise, night sweats, febrile episodes, and arthralgias.
Laboratory workup is similar to that for Wegener granulomatosis. However, it is
important to include human immunodeficiency virus (HIV) testing.
A nasal biopsy may assist diagnosis, if sampling of both abnormal and adjacent
normal tissues is adequate.
Pathology
T-cell lymphomas have a polymorphic lymphoid infiltrate made up of mature,
immature, and atypical lymphocytes, plasma cells, histiocytes, eosinophils, and
macrophages. The infiltrate is characterized by angiocentricity and angioinvasion
and can lead to vessel occlusion and local tissue infarction. This may cause the
rapid tissue necrosis and ischemia seen with nasal T-cell lymphoma.
Immunohistochemical studies of biopsy specimens typically demonstrate the
presence of T-cell–associated markers such as CD2, CD7, CD45RO, and CD43 and
natural killer cell marker CD57.
The association of Epstein-Barr virus (EBV) and nasal T-cell lymphoma has been
frequently reported. Various studies report the detection of EBV DNA and RNA in
tumor cells associated with high titers of EBV antibodies in patients with T-cell
lymphoma.
The causative role of EBV in the pathogenesis of T-cell lymphoma has been strongly
27
suggested but remains to be definitively determined.
Treatment
Localized disease responds well to radiation therapy, and chemotherapy may
benefit patients with disseminated disease or relapses.
high-dose chemotherapy and autologous peripheral blood stem cell
transplantation may be effective treatment options for relapsed nasal T-cell
lymphoma.
Currently, in an attempt to control the primary lesion and prevent early
dissemination, multiagent chemotherapy in addition to radiation therapy is the
initial treatment recommendation for nasal T-cell lymphoma.
28
IMMUNODEFICIENCY DISEASES
Immunodeficiency is of special importance in rhinology in two areas:
the nasal manifestations of acquired immune deficiency syndrome (AIDS) and
the infectious consequences of iatrogenic immunodeficiencies that result from
chemotherapy for neoplastic and hematologic diseases.
SINUSITIS IN THE IMMUNOCOMPROMISED PATIENT
Rhinitis and sinusitis in immunocompromised patients are usually due to the same
pathogens that affect the general population. There may be more subtle signs of
bacterial infection, but treatment is similar and consists of antibiotics and/or
surgery.
Complications that include periorbital or orbital abscess may be more subtle, and
open surgical treatment may be instituted prior to full demonstration of an abscess
cavity on CT.
Fungal sinusitis appears rarely in immunocompromised patients but is extremely
important to the otolaryngologist in terms of diagnosis and treatment. Aspergillus
and Mucor species are the most commonly involved fungi. Affected patients
present with bloody nasal discharge, facial pain and swelling, fever, and edema.
The disease often progresses rapidly in an invasive manner to cause facial cellulitis,
gangrenous mucosal changes in the nose and paranasal sinuses, obtundation,
cranial nerve palsies, vision loss, and proptosis.
29
Diagnosis
findings of pale or gray mucosa of the nasal cavity or palate or the classic black
middle turbinate.
Decreased pain and sensitivity of the nasal cavity is a suspicious sign. Small tissue
biopsy specimens should be taken of the nasal lesions, and these should be sent
for culture and microscopic examination, which should include Gomori
methenamine silver staining.
CT of the sinuses may demonstrate a destructive bony lesion but can often
understate the clinical problem in a severely immunocompromised patient.
Treatment
Treatment includes standard therapy for febrile neutropenia if present,
blood glucose control in diabetics,
medical therapy for biopsy- or culture-confirmed Mucor or Aspergillus infection.
Current antifungal therapies include amphotericin B, given systemically and with
nasal irrigations; voriconazole; and posaconazole.
Aggressive surgical debridement is strongly advocated if the patient can tolerate
surgical interventions, which range from endoscopic debridement to total
maxillectomy with orbital exenteration and craniofacial resection.
30
ACQUIRED IMMUNE DEFICIENCY SYNDROME AND THE NASAL AIRWAY
AIDS presence of one or more opportunistic diseases that indicate an underlying
cellular immunodeficiency without any other known cause of immunodeficiency.
HIV attacks T-helper cells.
most common nasal manifestation of AIDS chronic rhinitis.
drying, crusting, nasal congestion, partial obstruction, and pain or discomfort.
Purulent rhinitis may be seen secondary to cytomegalovirus.
Other causative agents of rhinosinusitis reported in the literature include
Streptococcus pneumoniae, Haemophilus influenzae, Legionella pneumophila,
Alternaria species, Cryptococcus neoformans, and Acanthamoeba castellanii.
Initial treatment of rhinosinusitis  trial of antibiotics and decongestants
Failure of this trial antral lavage and culture with directed treatment
If response is inadequate  surgical intervention
Benign and malignant neoplasms in AIDS, who may complain of nasal
obstruction and hearing loss or foul-smelling nasal discharge.
benign lymphoid hypertrophy and nasal lymphomas.
Kaposi sarcoma in the nasal skin, vestibule, cavity, septum, and nasopharynx
Presenting symptoms  nasal obstruction, drainage, and epistaxis,
physical examination nodular violaceous lesions.
Treatment ranges from supportive care to chemotherapy and radiation
31
CUTANEOUS DISEASES
PEMPHIGUS VULGARIS
Pemphigus vulgaris is a common mucocutaneous bullous disorder characterized by
nonscarring bullous dermatitis of presumed autoimmune origin.
most commonly involved site in the head and neck region  oral cavity
10% of all patients have involvement of the nasal mucosa
Desquamative ulcerative lesions can be seen, and ulceration of the nasal septum with
anterior perforation has also been reported
the external nose is more likely to be affected.
mainstay of treatment  Steroids ,,and may have to be combined with other
immunosuppressants.
PEMPHIGOID
Pemphigoid is an uncommon disease characterized by blisters and scar formation
etiology is presumed to be autoimmune.
Pemphigoid can be divided into two categories:
cicatricial pemphigoid is more likely to affect the mucosa,
bullous pemphigoid is confined to skin.
Nasal findings occur in 25% to 50% of affected patients.
The usual site of involvement is the anterior nasal region, which is found to have painful,
ulcerative crusting. Scar formation is usually found in the nasal valve area but can also affect
the nasopharynx. Scarring may be bilateral and may lead to partial or total nasal obstruction.
Treatment,
managed by a dermatologist  dapsone and/or immunosuppressive agents.
32
SCLERODERMA
Scleroderma is a systemic disorder of unknown etiology
symmetric stiffness of the skin and vascular insufficiency
Head and neck very common and mostly  skin and oral cavity
Nasal findings involve telangiectasias of the mucosa leading to epistaxis.
Treatment is symptomatic.
BEHÇET DISEASE
Behçet disease triad  oral ulceration+ genital ulceration+ ocular inflammation.
The typical aphthous ulceration found in the oral cavity in this disease can also be
found in the nasal mucosa
These lesions typically heal without scarring but can cause rhinorrhea, septal
ulceration, and pain.
Treatment  symptomatic care along with immunosuppressive agents.
HEREDITARY HEMORRHAGIC TELANGIECTASIA
Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu disease) is an
autosomal dominant inherited disorder of the structure of skin and mucosal blood
vessels. The most common symptom is epistaxis secondary to spontaneous
bleeding from telangiectasias of the nasal mucosa, which may be mild or
severe. Treatment includes cauterization, laser ablation, septal dermatoplasty,
estrogen therapy, and embolization.
Recurrent cauterization may lead to septal perforation.
33
MUCOCILIARY DISEASES
A major defense mechanism of the nose and paranasal sinuses against infection is
the mucociliary system.
The physiology of this system has only recently come under close scrutiny, and its
role in the prevention of sinusitis is demonstrated by the
effects of mucociliary deficiencies dysfunctional cilia syndrome and cystic
fibrosis.
New techniques for evaluating cilia function have permitted better diagnosis of
these conditions, the detrimental consequences of which can be controlled by early
treatment.
Normal mucociliary function in the nose is toward the nasopharynx in all parts
except for the very anterior end of the septum. The direction of mucociliary
transport is independent of the position of the body in reference to gravity. At areas
that lack ciliated epithelium, mucociliary transport can be bridged by the traction
exerted by the viscous mucus layer.
If a piece of mucosa is excised then reimplanted, the cilia continue to
beat in their previous direction.
34
Primary ciliary dyskinesia was first described in association with Kartagener
syndrome
The dyskinesia is characterized by chronic respiratory tract disease that begins in
childhood and leads to a constellation of symptoms that include chronic rhinitis,
sinusitis, bronchiectasis, chronic cough, otitis media, and sterility.
The incidence of primary ciliary dyskinesia  1 in 15,000 to 1 in 30,000,
suspected to be an autosomal recessive disease.
Diagnosis
Primary ciliary dyskinesia can be diagnosed by the saccharin test,
placement of a tablet of sodium saccharinate just behind the anterior aspect of
the inferior turbinate. The time required for the patient to notice a sweet taste after
placement of the tablet is recorded. The maximum time is typically 30 minutes in
the normal population. The test result may be influenced by many variables and
does not itself identify a specific etiology of symptoms.
An additional test involves the cytologic investigation of viable ciliary cells
collected from the nose with small brushes. Cytologic investigation should be
performed at various intervals and can confirm diagnosis by the finding of
decreased ciliary beat frequency.
Treatment Management of primary ciliary dyskinesia  antibiotics and nasal
irrigations Surgery is indicated for chronic or recurrent infections to establish a
dependent drainage pattern. But even with appropriate surgical drainage, longterm use of antibiotic and nasal irrigations will be necessary to control symptoms.35
CYSTIC FIBROSIS
Cystic fibrosis (CF), the most common fatal inherited disease among whites
autosomal recessive. It affects 1 in 2000 live births and is associated with a
mutation on chromosome 7q31-32.
CF is caused by defects in the cystic fibrosis gene, which codes for the CF
transmembrane conductance regulator protein
This affects the mucous component of mucociliary transport, rather than the cilia
themselves, as is the case in ciliary dyskinesia
CF exocrinopathy  clinical features of chronic lung disease, chronic sinusitis,
and pancreatic insufficiency with intestinal malabsorption
Patients come to the otolaryngologist mostly for sinonasal disease, and nasal
manifestations of CF include nasal polyposis, either unilateral or bilateral, that
leads to obstructive sinusitis. Patients typically complain of nasal obstruction and
discharge.
Diagnosis
Although the diagnosis of CF is typically made prior to presentation to an
otolaryngologist, the suspicion should be high in a child with nasal polyposis.
Diagnosis is confirmed with the sweat chloride test. Specific nasal symptoms
include intermittent nasal obstruction with clear but thick rhinorrhea and nasal
polyps. Chronic nasal polyposis may cause a widened nasal bridge.
36
Anterior rhinoscopy and nasal endoscopy are important for full evaluation of the
nasal cavities to determine the significance of obstruction and degree of
inflammation.
Radiology demonstrates underdevelopment of the sinuses, especially the frontal
sinus, secondary to chronic sinusitis. Other common findings on CT include nasal
polyposis, medial bulging of the lateral nasal wall, and mucus retention within the
maxillary sinuses.
Although nearly all patients with CF have
radiologic evidence of sinus disease, only
about 10% have symptoms of sinusitis, thus
patient history should guide treatment. Sinus
cultures are important for identification of
infectious agents, and endoscopy may
demonstrate grayish-green puttylike material
in the sinuses; the most common bacteria to
affect these sinuses are Pseudomonas
aeruginosa and Staphylococcus aureus.
Computed tomography scan of patient with
CF showing hypoplastic frontal sinuses 37
Treatment
multidisciplinary pediatricians, pulmonologists, otolaryngologists, and infectious disease
physicians.
Treatment of the nasal symptoms of CF is important to maintain a patent nasal airway and
prevent infection, and long-term antibiotic therapy directed at the offending organisms may
also be needed. Nasal irrigations and topical steroids are often beneficial. Nasal polyp
surgery, sinus surgery, or both may be indicated in cases of failed medical management; the
procedure performed depends
on the degree of nasal obstruction, the severity of sinusitis symptoms, and the motivation of
the patient and family. Much debate and controversy remain about the exact role of surgical
intervention in patients with CF. Surgery should be scheduled with the approval of the
pulmonologist and anesthesiologist,
given the potential for severe obstructive pulmonary disease.
38
COMPLICATIONS
Complications of the nasal involvement of systemic diseases may be due to local
tissue destruction, mass effect, or secondary infection.
Patients may complain of rhinitis or postnasal drip, and some may also complain of
epiphora secondary to nasolacrimal duct obstruction.
With local tissue destruction, epistaxis may occur.
Also, severe destruction may lead to septal perforation, which may result in saddle
nose deformity.
EMERGENCIES
Few emergencies are related to the nasal manifestations of systemic diseases.
Epistaxis, although rarely an emergency, may be profuse and difficult to control,
which may lead to massive bleeding that requires nasal packing, embolization, or
surgical control.
Intracranial involvement may manifest as mental status changes or cranial nerve
deficits,
orbital involvement may induce acute vision changes or diplopia.
39