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Connective Tissue Diseases. UTMB Dept. of Otolaryngology Grand Rounds January 2004 Sam J. Cunningham, MD, PhD Francis B. Quinn, Jr., MD. Connective Tissue Diseases. Perivascular collagen deposition=Collagen Vascular Diseases Autoimmune diseases-not the primary cause

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connective tissue diseases

Connective Tissue Diseases

UTMB Dept. of Otolaryngology

Grand Rounds

January 2004

Sam J. Cunningham, MD, PhDFrancis B. Quinn, Jr., MD

connective tissue diseases2
Connective Tissue Diseases
  • Perivascular collagen deposition=Collagen Vascular Diseases
  • Autoimmune diseases-not the primary cause
  • Exact cause remains obscure
  • Different diseases associated with specific autoantibodies
connective tissue diseases3
Connective Tissue Diseases


Systemic Lupus Erythematosus Anti-dsDNA, Anti-SM

Rheumatoid Arthritis RF, Anti-RA33

Sjogrens Syndrome Anti-Ro(SS-A),Anti-La(SS-B)

Systemic Sclerosis Anti-Scl-70, Anti-centromere

Polymyositis/Dermatomyositis Anti-Jo-1

Mixed Connective Tissue Disease Anti-U1-RNP

Wegener’s Granulomatosus c-ANCA

connective tissue diseases4
Connective Tissue Diseases
  • Histopathology: Connective tissue and blood vessel inflammation and abundant fibrinoid deposits
  • Varying tissue distribution and pattern of organ involvement
  • Symptoms nonspecific and overlapping
  • Difficult to diagnose
systemic lupus erythematosus
Systemic Lupus Erythematosus
  • General
    • autoimmune multisystem disease
    • prevalence 1 in 2,000
    • 9 to 1; female to male (1 in 700)
    • peak age 15-25
    • immune complex deposition
    • photosensitive skin eruptions, serositis, pneumonitis, myocarditis, nephritis, CNS involvement
systemic lupus erythematosus6
Systemic Lupus Erythematosus
  • specific labs - native(Double stranded) DNA, SM antigen
  • lupus like reaction
  • LE cells
systemic lupus erythematosus8
Systemic Lupus Erythematosus
  • Head and Neck Manifestations
    • Malar rash first sign in 50%
    • Erythematous maculopapular eruption after sun exposure
    • Oral ulceration
    • 3-5% nasal septum perforation
    • Acute parotid enlargement 10%
    • Xerostomia 15%
    • Larynx and trachea involvement uncommon

-TVC thickening and paralysis, cricoarytenoid arthritis, subglottic stenosis

systemic lupus erythematosus10
Systemic Lupus Erythematosus
  • Discoid Lupus: Cutaneous manifestations
  • Scar upon healing
systemic lupus erythematosus11
Systemic Lupus Erythematosus
  • Treatment: Rheumatologist involvement
  • Avoidance of sun
  • Use of sunscreens
  • NSAIDS, topical and low dose steroids, antimalarials
  • Low dose methotrexate instead of steroids
  • Azothioprine, cyclophosphamide, high dose steroids for serious visceral involvement
  • Symptomatic: Salivary substitutes, Klack’s solution, postprandial rinses of 1: 1 H2O2:H2O
rheumatoid arthritis
Rheumatoid Arthritis
  • 1% of the population
  • Women affected 2-3 X more than men
  • Age of onset is 40-50
  • Juvenile form
rheumatoid arthritis13
Rheumatoid Arthritis
  • Inflammation of the synovial tissue (lymphocytic) with synovial proliferation
  • Symmetric involvement of peripheral joints, hands, feet and wrists
  • Occasional systemic effects:vasculitis, visceral nodules, Sjogren syndrome, pulmonary fibrosis
  • Anti-RA-33 autoantibodies
  • RA associated nuclear antigen (RANA)
rheumatoid arthritis diagnostic criteria
Rheumatoid Arthritis: Diagnostic Criteria

1. Morning stiffness (>1h)

2. Swelling of three or more joints

3. Swelling of hand joints (prox interphalangeal, metacarpophalyngeal, or wrist)

4. Symmetric joint swelling

5. Subcutaneous nodules

6. Serum Rheumatoid Factor

7. Radiographic evidence of erosions or periarticular osteopenia in hand or wrists

Criteria 1-4 must have been present continuously for 6 weeks or longer and must be observed by a physician. A diagnosis of rheumatoid arthritis requires that 4 of the 7 criteria are fulfilled.

Rheumatoid Arthritis may involve the TMJ.

55% Affected

70% with radiographic evidence of TMJ involvement

Juvenile form may lead to retrognathia

rheumatoid arthritis17
Rheumatoid Arthritis
  • Head and Neck Manifestations
    • cricoarytenoid joint
      • most common cause of cricoarytenoid arthritis
      • 30% patients hoarse
      • 86% pathologic involvement
      • exertional dyspnea, ear pain, globus
    • hoarseness
      • rheumatoid nodules, recurrent nerve involvement
    • stridor
      • local/systemic steroids
      • poss. Tracheotomy
rheumatoid arthritis18
Rheumatoid Arthritis
  • Head and Neck Manifestations
    • CHL
      • ossicular chain involvement
      • flaccid TM
    • SNHL
      • unexplained
      • assoc. with rheumatoid nodules
    • cervical spine
      • subluxation
rheumatoid arthritis19
Rheumatoid Arthritis
  • Treatment
    • physical therapy, daily exercise, splinting, joint protection
    • salicylates, NSAIDS, gold salts, penicillamine, hydroxychloroquine, immunosuppressive agents
    • Cyclosporin-A
    • prognosis
      • 10-15 yrs of disease
        • 50% fully employed
        • 10% incapacitated
        • 10-20% remission
sjogren syndrome
Sjogren Syndrome
  • Chronic disorder characterized by immune-mediated destruction of exocrine glands
  • Primary vs Secondary:
  • Primary is diagnosis of exclusion
  • Secondary refers to the sicca complex accompanying any of the connective tissue diseases (xerophthalmia, keratoconjuntivitis, xerostomia with/without salivary gland enlargement)
sjogren syndrome21
Sjogren Syndrome
  • 1% of the population and in 10-15% of RA patients
  • 9:1 female:male preponderance
  • Age of onset 40-60 years
  • Associated with a 33-44 times increased risk of lymphoma.
sjogren syndrome22
Sjogren Syndrome
  • May affect the skin, external genitalia, GI tract, kidneys, and lungs
  • Minor salivary gland biopsy demonstrates lymphocytic infiltration.
  • Parotid biopsy more sensitive and specific
  • Associated with Sjogren Syndrome A (RO-SS-A) in 60% and Sjogren Syndrome B (LA-SS-B) in 30%
sjogren syndrome diagnostic criteria
Sjogren Syndrome Diagnostic Criteria

1. Dry eyes (>3mos), sensation of sand or gravel in eyes, or use of tear substitutes>3x per day

2. Dry mouth (>3mos), recurrent or persistent swollen salivary glands, or frequent drinking of liquids to aid in swallowing dry foods.

3. Schirmer-I test (<5mm in 5 min) or Rose Bengal score >4.

4. >50 mononuclear cells/4mm2 glandular tissue

5. Abnormal salivary scintigraphy or parotid sialography or unstimulated salivary flow <1.5ml in 15 min

6. Presence of anti-Ro/SS-A, anti-La/SS-b, antinuclear antibodies, or rheumatoid factor.

sjogren syndrome24
Sjogren Syndrome
  • 80% experience xerostomia
  • Difficulty chewing, dysphagia, taste changes, fissures of tongue and lips, increased dental caries and oral candidiasis
  • Salivary gland enlargement
  • Sicca syndrome
sjogren syndrome treatment
Sjogren Syndrome: Treatment
  • Symptomatic: saliva substitutes, artificial tears, increased oral fluid intake
  • Avoid decongestants, antihistamines, anticholinergics, diuretics
  • Pilocarpine, antifungals, close dental follow-up, surveillance for malignancy
  • Also known as systemic sclerosis
  • Sclerotic skin changes often accompanied by multisystem disease.
  • Progressive fibrosis from increased collagen deposition in intersitium and intima of small arteries and connective tissues
  • May be benign cutaneous involvement or aggressive systemic disease.
  • 4-12 new cases per million per year
  • 3-4:1 female preponderance
  • Average age of onset between 3rd and 5th decade
scleroderma diagnostic criteria
Scleroderma Diagnostic Criteria
  • One major criterion: scleromatous skin changes proximal to the metacarpal-phalangeal joints
  • Two of three minor criteria: sclerodactyly, digital pitting scars, bi-basilar pulmonary fibrosis on CXR


  • Raynaud’s phenomenon
  • edema fingers and hands
  • skin thickening

visceral manifestations

  • GI tract, lung, heart, kidneys, thyroid

arthralgias and muscle weakness often

scleroderma head and neck manifestations
Scleroderma: Head and Neck Manifestations
  • Dysphagia most common initial complaint:
    • 80% exhibit pathology in distal 2/3 of esophagus on BAS: decreased or absent peristalsis, hiatal hernia, reflux
  • Tight, thin lips with vertical perioral furrows
  • Trismus 2nd to tight skin, not TMJ path
  • Xerostomia, xerophthalmia,
  • Laryngeal involvement w hoarseness
  • Transition zone around dental roots
    • Considered pathognomonic by some
polymyositis and dermatomyositis
Polymyositis and Dermatomyositis
  • Proximal muscle weakness and nonsuppurative inflammation of skeletal muscle
  • 5 cases per million per year
  • 2:1 female:male
  • Age 40-60, but a pediatric variant of 5-15 year old
polymyositis dermatomyositis diagnosis
Polymyositis/Dermatomyositis Diagnosis
  • Proximal muscle weakness
  • Elevated serum creatinine kinase
  • Myopathic changes on electromyography
  • Muscle biopsy with evidence of lymphocytic inflammation

Dx is definitive with all four, probable with three, and possible with two.

Rash accompanies these in dermatomyositis

polymyositis head and neck manifestations
Polymyositis: Head and Neck Manifestations
  • Difficulty phonating and deglutition 2nd to affected tongue musculature
  • Nasal regurg 2nd to affected pharyngeal and palatal musculature
  • 30% with dysphagia 2nd to involvement of upper esophagus, cricopharyngeus, pharynx, and superior constrictors
  • Aspiration pneumonia
polymyositis and dermatomyositis treatment
Polymyositis and Dermatomyositis:Treatment
  • Steroids for symptomatic patients
  • Methotrexate and immunosuppressants for non-responders
relapsing polychondritis
Relapsing Polychondritis
  • General
    • recurring inflammation cartilaginous structures
    • eventual fibrosis
    • prevalence
      • F>M
      • 25-45
      • equal racial
    • can affect any cartilaginous structure
      • including heart valves and large arteries
  • General
    • diagnostic criteria
      • recurrent chondritis of the auricles
      • nonerosive inflammatory polyarthritis
      • chondritis of the nasal cartilages
      • inflammation of ocular structures
      • chondritis of laryngeal or tracheal cartilages,
      • cochlear (SNHL, tinnitus) vestibular (vertigo) damage
  • General
    • labs
      • ESR, leukocytosis, anemia
    • histology
      • loss of basophilic staining of cartilage
      • perichondral inflammation
      • destruction fibrotic replacement
  • Head and Neck Manifestations
    • auricular chondritis, nonerosive arthritis most common
      • sudden onset erythema, pain,
      • spares EAC
      • feature presentation in 33%
      • present in 90%
      • occasional LAD
      • resolution 5-10 days with or without
  • serous otitis, SNHL, 49% inner ear symptoms
  • nasal chondritis
    • develops in 75%
    • not necessarily coincides with auricular
  • laryngeal involvement
    • nonproductive cough
    • hoarseness
    • stridor
    • 53% airway involvement
relapsing polychondritis45
Relapsing Polychondritis
  • Treatment
    • salicylates, ibuprofen-symptomatic relief
    • steroids for life threatening
    • dapsone (anti-leprosy) reduces lysozymes
mixed connective tissue disease
Mixed Connective Tissue Disease
  • Coexisting features of SLE, scleroderma, and polymyositis
  • High titers of Anti-U1RNP
  • 80% female, 30-60 years
  • Head and neck: combination of manifestations of the above.
  • Treat with steroids

The vasculitides are a group of diseases characterized by non infectious necrotizing vasculitis and resultant ischemia.

polyarteritis nodosa
Polyarteritis Nodosa
  • Prototype of vasculitis
  • Less than 1/100000 per year
  • Males = Females
  • 50-60 years of age
  • Involves small and medium arteries
  • May result from Hep B infection (30%)
  • GI, hepatobiliary, renal, pancreas and skeletal muscles
polyarteritis nodosa49
Polyarteritis Nodosa

Head and neck symptoms primarily involve the ear and include SNHL and vestibular disturbance.

Proposed mechanism is thromboembolic occlusion of inner ear arteries

May also see CN palsies

churg strauss syndrome
Churg-Strauss Syndrome
  • Also called angiitis granulomatosis
  • Consists of small vessel vasculitis, extra vascular granulomas, and hypereosinophilia.
  • In patients with preexisting asthma and allergic rhinitis
hypersensitivity vasculitis
Hypersensitivity Vasculitis
  • General
    • collective term group of diseases
    • inflammation of small vessels
      • arterioles, capillaries, venules
    • circulating and deposited immune complexes
    • skin always involved
      • hemorrhage or classic purpura
    • major organ system involvement less common
hypersensitivity vasculitis52
Hypersensitivity Vasculitis
  • Head and Neck Manifestations
    • petechiae, purpura of oral and nasal mucosa
    • angioedema
    • serous otitis media
  • Treatment
    • usually self limited
      • especially when only skin involved
    • systemic involvement- more aggressive
wegener s granulomatosis
Wegener’s Granulomatosis
  • General
    • necrotizing granulomas of upper airway, lower airway, kidney
    • bilateral pneumonitis 95%
    • chronic sinusitis 90%
    • mucosal ulceration of nasopharynx 75%
    • renal disease 80%
    • hallmark pathologic lesion
      • necrotizing granulomatous vasculitis
wegener s granulomatosis54
Wegener’s Granulomatosis
  • antineutrophil cytoplasmic antibody (c-ANCA)
    • sensitivity 65-90%
    • high specificity
  • need to confirm diagnosis
    • often 3-4 biopsies necessary
    • nasopharynx commonly involved good site
    • open pulmonary biopsy occasionally needed
    • untreated mortality of 90% at two years
wegener s granulomatosis55
Wegener’s Granulomatosis
  • antineutrophil cytoplasmic antibody (c-ANCA)
    • sensitivity 65-90%
    • high specificity
  • need to confirm diagnosis
    • often 3-4 biopsies necessary
    • nasopharynx commonly involved good site
    • open pulmonary biopsy occasionally needed
    • untreated mortality of 90% at two years
wegener s granulomatosis56
Wegener’s Granulomatosis
  • Head and Neck Manifestations
    • nasal symptoms
      • crusting, epistaxis, rhinnorrhea, erosion of septal cartilage, saddle deformity, recurrent sinusitis
    • oral cavity
      • hyperplasia of gingiva, gingivitis
wegener s grnaulomatosis
Wegener’s Grnaulomatosis
  • upper airway
    • edema, ulceration of larynx (25%) significant subglottic stenosis (8.5%)
  • otologic
    • serous otitis media (20-25%), CHL, suppurative otitis media, SNHL, pinna changes similar to polychondritis, facial nerve palsies
wegerner s granulomatosis
Wegerner’s Granulomatosis
  • Treatment
    • meticulous dental and nasal care
    • middle ear drainage
    • cyclophosphamide 2 mg/kg plus prednisone 1 mg/kg
      • remission 93%
    • azathioprine or methotrexate alternative to cyclophosphamide
wegener s granulomatosis59
Wegener’s Granulomatosis
  • Treatment
    • isolated sinonasal disease
      • low dose steroids, saline irrigation, antibiotics as needed
    • subglottic stenosis
      • may warrant tracheotomy
giant cell arteritis temporal arteritis
Giant Cell Arteritis (Temporal Arteritis)
  • Only extracranial vessels involved
  • Focal granulomatous inflammation of medium and small arteries
  • Most common vasculitis
  • Prevalence:850/100000
  • Age 80+
giant cell arteritis
Giant Cell Arteritis
  • Most common initial complaint: Headache-boring and constant (47%), up to 90% will develop headache
  • ESR >50mm/hr
  • Confirmed by temporal artery biopsy of affected side: 5-7cm in length. If negative, biopsy contra lateral side. False negative rate of 5-40%
  • Tender and erythematous temporal artery 50%
  • Tender scalp
  • Jaw ischemia 50%
  • Lingual ischemia 25%
giant cell arteritis63
Giant Cell Arteritis
  • Otologic: vertigo and hearing loss
  • Dysphagia: ascending pharyngeal involvement
  • CN deficits, vertebrobasilar insufficiency, psychosis=intracranial disease
  • Blindness: 1/3 untreated patients
  • Treatment with prednisone and normalizaton of ESR
polymyalgia rheumatica
Polymyalgia Rheumatica
  • Seen in 50% of patients with giant cell arteritis
  • Muscular pain, morning stiffness of proximal muscles, elevated ESR without inflammatory joint or muscle disease
  • Low grade fever, wt loss, malaise
  • Low dose prednisone
behcet s disease
Behcet’s Disease
  • Vasculitis with triad of oral and genital ulcers and uveitis or iritis
  • Aphthous like ulcers, covered in pale pseudomembrane
  • Painful, on lips, gingiva, buccal mucosa, tongue, palate and oropharynx
  • Genital ulcers similar in appearance
  • Heal in days to weeks with scarring
cogan s disease
Cogan’s Disease
  • Rare disease of young adults
  • Vestibuloauditory dysfunction, interstitial keratitis, and nonreactive syphilis test
  • Follows URI
  • Symptoms: hearing loss, vertigo, tinnitis, and aural pressure. Photophobia, lacrimation, and eye pain
  • May resolve spontaneously
  • Hearing loss progressive and severe w decreased or absent vestibular responses on calorics
  • Ocular symptoms tx’s with topical steroids and atropine
  • Hearing loss avoided if tx’s with steroids within 2 weeks of onset
kawasaki disease
Kawasaki Disease
  • Mucocutaneous lymph node syndrome
  • Disease of children
  • Fever, conjuctivitis, red dry lips, erythema of oral mucosa, polymorphous truncal rash, desquamation of the fingers and toes, cervical lymphadenopathy
  • Oral cavity erythema and cervical adenopathy are presenting symptoms
  • Cardiac abnormalities cause 1-2% mortality rate