Rheumatology/dermatology Flashcards
Causes of ANCA+ve vasculitis
Wegener’s granulomatosis (cANCA, PR3)
Churg-Strauss granulomatosis
Microscopic polyangiitis (pANCA, MPO)
Pyoderma gangrenosum is associated with..?
Underlying systemic disorders such as inflammatory bowel disease, arthritis, and lymphoproliferative disorders.
Risk factors for JIA associated uveitis?
Young females, ANA+ve, oligoarticular (<5 joints)
Methotrexate side effects
GI upset, nausea, oral ulcers, hepatitis, haematological. Monitor LFTs + FBC 3-monthly.
Macrophage activation syndrome
Fever, cytopenia, inc ferritin ++, inc LFTs, hepatosplenomegly, deranged coags, decr fibrin.
High mortality up to 30% due to cytokine storm
One-three days of fever, serositis, arthritis and an erysipeloid rash (ankle/dorsum foot)
Familial mediterranean fever. Mutation MEFV. Give colchicine to protect from amyloidosis (presents with proteinuria).
PFAPA feature
Periodic fever, apthous stomatitis, pharyngitis, cervical adenitis
Behcet’s disease features
Recurrent oral and genital ulcers, pathergy (skin reaction 24-48hrs post needle prick), ant + post uveitis, vasculitis, erythema nodosum
Specific autoantibody for lupus nephritis?
Anti dsDNA is the most specific autoantibody for Lupus Nephritis
Which autoantibody is associated with HSP?
- pANCA
- IgA vasculitis
HLA-B27 associated conditions?
Ankylosing spondylitis Reiter's syndrome Reactive arthritis Arthritis associated with IBD + psoriasis Acute iridocyclitis
Sjogren syndrome features?
Dry eyes, dry mouth, carious teeth, parotitis. May occur alone or with other rheumatic disease. Can lead to neonatal lupus
Autoantibodies associated with neonatal lupus?
Anti-Ro, anti-La
Wegener’s granulomatosis features…
Necrotising granulomatous vasculitis affecting resp (lungs, ears, nose, sinuses) and glomerulonephiritis. ANCA +ve.
Causes of Wormian bones?
Osteogenesis imperfecta Rickets "Kinky-hair" Menke's syndrome Hypothyroidism and hypophosphatasia Down syndrome
ANA is positive in…?
SLE (esp. dsDNA), 40-85% of JIA (esp. oligo/polyarthritis), increased risk uveitis, some normal population
ENA is positive in…?
SLE
Rheumatoid factors (RF) is positive in…?
JIA, adult rheumatoid arthritis SLE HIV, hepatitis, TB Leukaemia, lymphoid malignancy Pulmonary fibrosis General population
Describe Achenbach Syndrome
- Acute idiopathic blue finger or paroxysmal finger haematoma
- Sudden onset of painful swelling of a single finger (but can be more than one). The distal segment is usually spared
- It is a rare benign syndrome and resolves spontaneously - Raynaud phenomenon usually involves more than one digit and does not spare the distal segment
Describe Sjogrens syndrome
- Recurrent parotitis, xerostomia (dry mouth), dry eyes, polyarthritis. vulvovaginitis
- F>M, mean age 9-10 yrs
- Anti-SSA/B, high titre ANA, RF+, leucopenia
Describe sarcoidosis
- Multisystem non caseating epithelioid granulomatous disease
- Systemic features (fever, weight loss, malaise), pulmonary involvement and lymphadenopathy
- Age <4: triad of rash, uveitis, and polyarthritis
- Inc CRP/ESR, anaemia, leucopenia, eosinophilia
- Tx: steroids
List the major criteria of rheumatic fever from most to least common
Arthritis 75% Carditis 50-60% Chorea 10-15% Erythema marginatum 1% SC nodules <1%
IL-6 inhibitor?
- Tocilizumab
- Polyarticular JIA
Daily SC IL-1 inhibitor?
- Anakinra
- Systemic JIA
- Note: canakinumab = monthly, rilonacept = weekly
Discuss dermatomyositis?
- Affects skin, muscles, GI tract
- Onset 5-10y, autoimmune disease, HLADR3 and 5
- Symmetrical proximal muscle weakness and skin lesions
- Calcinosis - small nodules of calcium which erupt through skin
- Systemic symptoms: malaise, low-grade fever, irritability, lethargy, muscle pain
- May have difficulty swallowing (dysphagia)
- Heliotrope rash, hyperaemic nail folds, Gottron’s papules, photosensitive rash
- Muscle biopsy: inflamm, necrosis. EMG: fibrillations, decr amplitude. Inc CK and ANA
- Tx: steroids, methotrexate, ciclosporin. Tx min 2 years to decrease risk relapse. Hydroxychloroquine for skin rash
Discuss the features of Behcet disease
- More common in Mediterranean population
- Usually 8-12 years old
- Oral ulcers >3/year
- 2 x: genital ulcers, pathergy, eye lesions (uveitis), skin lesions (erythema nodosum)
- No clear treatment, steroids/immune modulators
What is urticaria pigmentosa?
- Urticaria pigmentosa is the most common form of cutaneous mastocytosis.
- Infantile form resolves by age 3-4y
- It is a rare disease caused by excessive numbers of mast cells in the skin that produce hives or lesions on the skin when irritated (dermatographism also seen on normal skin)
What antibodies do you see in granulomatosis with polyangiitis?
- Wegner’s
- c-ANCA, PR3-ANCA
What antibodies do you see in microscopic polyangiitis?
- p-ANCA, MPO-ANCA
What is eosinophilic granulomatosis with polyangiitis (EGPA)?
- Churg-Strauss syndrome is a small vessel necrotizing granulomatous vasculitis associated with a history of refractory asthma and peripheral eosinophilia
- cANCA, PR3-ANCA positive (same as GPA)
- Cartilage destruction is rare and renal involvement is
uncommon - GI, skin, nerve, cardiac damage
Discuss granulomatosis with polyangiitis
- Formerly Wegner’s
- Due to c-ANCA, PR3-ANCA (proteinase 3)
- Affects:
- URT: OM, chronic sinusitis, mastoiditis, perforation nasal septum, nasal ulcers
- LRT: haemoptysis (don’t confuse with goodpasture’s which doesn’t have URTI involvement)
- Kidneys: restricted flow, can develop RPGN, non-caseating granulomas, oliguria, hypertension
- CXR: nodules, cavities, infiltrates, CT: granulomas in lungs. May have ground glass/interstitial fibrosis appearance
- Histology: granulomatous inflammation
Discuss microscopic polyangiitis
- p-ANCA, MPO-ANCA (myeloperoxidase)
- Similar to GPA but no upper resp tract involvement
- No granulomas on histology
- Affects kidney and lungs
- Precipitated by meds e.g. penicillin
Discuss familial mediterranean fever
- Episodes are characterised by high fevers lasting ~3 days, associated with symptoms of serositis – peritonitis, pleuritis, pericarditis, meningitis, arthritis or orchitis – abdominal or chest pain most common
- Can represent acute abdomen
- A vasculitic or erysipelas ‐like rash over the lower limbs is seen in some, as is myalgia and diarrhoea.
- Persistent splenomegaly, otherwise well between
- Attacks are irregular and unpredictable (can be triggered by stress, infections, menses)
- 50% children develop renal/GI/lung AA amyloidosis
- Tx: daily colchicine prophylaxis (2nd line rilonacept = IL-1 inhibitor)
Discuss the glucocorticoid potenticies
Hydrocortisone = 1 = 20mg (least potent) Prednisone = 4 = 5mg Fludrocortisone = 10 Betamethasone/dexamethasone = 25 = 0.75mg (most potent)
Immunology of eczema?
- Th2 pathway
- Increased lymphocytes, eosinophils, IgE production
Filaggrin deficiency is seen in?
- 1/3rd of eczema population
- Skin barrier defect
- Reduced stratum corneum hydration, reduced epidermal barrier function, enhanced Th2 immune activation, increased staph colonisation
- Also seen in asthma, rhinitis, food allergy
Systemic treatments for eczema?
- Phototherapy - narrowband UVB
- Low dose methotrexate
- Ciclosporin A
- Dupilumab - not available in NZ, targets Th2 pathway
Treatment of psoriasis
- Emollients, calcipotriol, coal tar, salicylic acid, daivobet (calcipotriol + betamethasone)
- Acitretin (related to isotretinoin)
- Methotrexate
- Never use systemic steroids as risk of pustular flare which is life-threatening
What is pigmentary mosaicism?
- New term, includes hypomelanosis of Ito
- Congenital or early onset, widespread non-progressive hyper or hypo pigmentation
- Sporadic
- Systemic features - skeletal, renal, cleft palate, seizures, ID, hip dislocation, autism
Discuss Incontinentia Pigementi
- X-linked dominant, NEMO gene
- Lethal in males
- Follows Blaschko’s lines
- 4 stages:
- Vesicular - may occur in utero - 6m, spares face, erythema + blistering. DDx HSV
- Verrucous - wart-like lesions, thick scabs, inc with fever. Up to 1-2y, distal limbs
- Hyperpigmented - until 16y, variable pigmentation, axilla, groin, nipples, follows Blaschko’s lines
- Atrophic - adult females, pale linear lesions trunk and legs, loss of hair
+ delayed dentition, missing teeth, peg-shaped teeth, strabismus, retinopathy, seizures, 15% ID 10%, nail dystrophy, alopecia
Features of Takaysau arteritis
- Large vessel vasculitis
- Hypertension, aortic involvement (dilation), renal artery involvement (narrowed)
- Histology: giant cells and granulomas
Features of polyarteritis nodosa
- Transmural inflammation of endothelium - leads to necrotising vasculitis and then fibrosis (due to healing) of vessel walls
- Fibrosed wall is weak, prone to aneurysms - “string of beads” along vessel, unique appearance, aneurysms and fibrotic stenosis
- Associated with strep, Hep B, CMV, parvovirus, FMF
- Symptoms depend on area of organ ischaemia: kidneys (hypertension), mesenteric artery (abdo pain, bleeding), brain (neuro symptoms), skin (lesions)
- Histology: necrotising vasculitis
- Tx: corticosteroids
What are examples of small vessel vasculitis?
- Microscopic polyangiitis
- Granulomatous polyangiitis
- SLE
- Juvenile dermatomyositis
Types of granulomatous vasculitis
- Takayasu (large vessel)
- Granulomatosis with polyangiitis (Wegner, small vessel)
- Eosinophilic granulomatosis with polyangiitis (Churg-Strauss, small vessel)
Types of granulomatous vasculitis
- Takayasu (large vessel)
- Granulomatosis with polyangiitis (Wegner, small vessel)
- Eosinophilic granulomatosis with polyangiitis (Churg-Strauss, small vessel)
Types of necrotising vasculitis
- Polyarteritis nodosa (medium)
- Kawasaki (medium)
- Granulomatosis with polyangiitis (Wegner, small vessel)
- Microscopic polyangiitis (small)
Treatment of vasculitis
- Mild: induction with prednisone, maintenance with methotrexate, azathioprine, cotrimoxazole for URT involvement
- Severe: induction with methylpred or cyclophosphamide, maintenance with prednisone or azathioprine
- Failed induction or relapse: rituximab (anti CD20), infliximab (anti TNFa), IVIG
- Stop treatment once stable >12m, and taper >5m
Histology showing leukocytoclastic vasculitis?
- Usually HSP (has IgA deposition on immunofluorescence, thickened glomerular loops on biopsy)
- Can be isolated
Is arthritis more common in UC or CD?
- Twice as common in Crohn’s disease
- Mirrors bowel disease and associated with flares
Discuss SLE
- T3 hypersensitivity, immune complex deposition throughout body, causing inflammation and activation of complement
- Decr C3 and C4, ANA +ve
- Relapsing, remitting, systemic. Need 4/11 criteria
- Antibodies to blood cells leads to pancytopenia (T2 hypersensitivity)
- Skin: butterfly rash, discoid rash, photosensitivity
- Membranes: ulcers in mouth or nose, serositis
- Extraglandular: >2 joints arthritis, diffuse proliferative GN “wire loop”, neuro (headache, seizures, psychosis, depression)
- Blood: pancytopenia, ANA+ve, anti-Smith/anti dsDNA/ , anti-phospholipid (anti-cardiolipin, lupus anticoagulant)
- Tx: hydroxychloroquine, steroids, cyclophos, azathioprine
Discuss Sjogrens
- Autoimmune disorder against exocrine glands
- Mediated by CD4+ T cells, macrophages, plasma cells
- Most commonly affects lacrimal and salivary glands: keratoconjunctivitis, dry eyes and mouth, xerostomia, ulceration nasal septum
- Swollen glands, dry skin, inc risk infections
- Anti-Ro (SSA) and anti-La (SSB) antibodies
- Tx: steroids, increase secretions
Causes of parotitis
- Viral: mumps, parainfluenza, coxsackie, CMV, EBV
- Bacterial: staph, strep
- Recurrent parotitis of childhood
- Sjogrens (from salivary stasis), CF, stones, sarcoidosis
Discuss sarcoidosis
- Hilar lymphadenopathy, erythema nodosum, uveitis, cardiac arrhythmias
- Fever, weight loss, fatigue
- SOB + cough common
- Non-caseating granulomas consisting of macrophages and T cells
- Langhans giant cell - large fused nucleated cell
- Hypercalcaemia (excess Vit D from macrophages), increased ACE level (T-cells), inc T cells in lungs (lavage)
- Tx: steroids
