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A Case of Mistaken Identity: Identifying Rheumatology Mimics
Sharon L Kolasinski MD FACP FACR Professor of Clinical Medicine
Division of Rheumatology Perelman School of Medicine
University of Pennsylvania 13 February 2016
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Disclosure of Financial Relationships
Sharon L Kolasinski MD
Has no relationships with any entity producing, marketing, re-selling,
or distributing health care goods or services consumed by, or used
on, patients.
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Case 1.
• A 50 year old woman presents with 3 months of progressively worsening hand puffiness and the abrupt appearance of a painful lesion on the tip of the right second finger extruding chalky material
• PMH:
– GERD x 10 years
– digital blanching with cold exposure x 2 years
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Case 1.
American College of Rheumatology Image Bank
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Case 1. Skin Biopsy
H&E
Collagen Stains Pink
Normal Skin Biopsy
Dermis
Epidermis
Increased collagen
Thickened dermis
Gomori trichrome
Collagen Stains Blue
Collagen replaces fat
American College of Rheumatology Image Bank missinglink.ucsf.edu
H&E
Collagen Stains Pink
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The most likely diagnosis is
1. Scleroderma
2. Scleredema
3. Scleromyxedema
4. Limited Joint Mobility Syndrome
5. Eosinophilic Fasciitis
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Scleroderma • Idiopathic autoimmune disorder characterized
by vasospasm, vascular damage and excessive fibrosis in skin and internal organs
• Almost all scleroderma patients have
– Raynaud’s Phenomenon
– + ANA
– Abnormal Nailfold Capillaroscopy
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Nailfold Capillaroscopy
Scleroderma: Capillary Dilatation at Cuticles
Normal
American College of Rheumatology Image Bank; Wikipedia; Microvision
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Scleroderma Nomenclature • Clinical types:
– Limited cutaneous systemic sclerosis
(formerly CREST) • Limited skin involvement
• Pulmonary hypertension
• Centromere pattern +ANA
– Diffuse cutaneous systemic sclerosis • Rapidly progressive skin involvement
• Interstitial lung disease
• Renal crisis
• Nucleolar pattern +ANA
• Anti-topoisomerase (anti-scl-70)antibody
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Esophageal Dysmotility American College of Rheumatology Image Bank; BMJ Best Practices
Telangectasias
Limited Cutaneous Systemic Sclerosis
Sclerodactyly
Calcinosis Raynaud’s
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Normal
Scleroderma:
dilation isolated capillary loops,
loss of surrounding loops
American College of Rheumatology Image Bank
Rapid, Severe Skin Involvement
Interstitial Lung Disease
Diffuse Cutaneous Systemic Sclerosis
Scleroderma Renal Crisis
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Case 2.
• A 29 year old woman presents with diffuse brawny thickening and tightening of the skin of the face over the last 5 days
• PMH:
– Resolving upper respiratory tract infection
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Case 2.
Woody induration of forehead skin
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Case 2. Skin Biopsy
American College of Rheumatology Image Bank
Thickened dermis, Swollen appearance of collagen bundles, clear spaces between collagen bundles
Spaces between collagen bundles filled with mucopolysaccharides
H & E
Collagen Stains Pink
Alcian Blue
Mucin Stains Blue
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The most likely diagnosis is
1. Scleroderma
2. Scleredema
3. Scleromyxedema
4. Limited Joint Mobility Syndrome
5. Eosinophilic Fasciitis
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Scleredema
• Diffuse, woody induration most often neck, upper back, shoulders
• Hands and feet are spared • 3 clinical types:
– Following influenza, measles, mumps, varicella, streptococcus (scleredema adultorum); abrupt onset; children, young adults; self limited
– Associated with paraproteinemia; slow onset – Associated with poorly controlled, middle aged, obese
DM (scleredema diabeticorum); slow onset
• Labs: ASO, SPEP, HgbA1c • Rx: Phototherapy, PT
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Case 3.
• A 46 year old man presents with a papular, pruritic skin eruption with marked skin thickening of his face, chest, arms, legs progressing over the last year
• PMH:
– plasma cell dyscrasia
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American College of Rheumatology Image Bank
Case 3.
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1. Thickened, irregular collagen bundles 2. Wide intercollagenous spaces 3. Interstitial dermal mucin 4. Increased number fibroblasts
American College of Rheumatology Image Bank
Case 3. Skin Biopsy
H & E Alcian Blue
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The most likely diagnosis is
1. Scleroderma
2. Scleredema
3. Scleromyxedema
4. Limited Joint Mobility Syndrome
5. Eosinophilic Fasciitis
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Scleromyxedema
• Primary cutaneous mucinosis→ Thickened skin with clusters of waxy papules that coalesce
• Very rare, middle age • Face, neck, upper trunk, arms, hands • Thickened skin forms deep furrows→ leonine (lion-like) facies • Extensive skin involvement→ joint pain, ↓ mobility, joint
contractures • Systemic involvement→ disabling neurologic, myopathic,
pulmonary disease; esophageal dysmotility, dysphagia • Labs: 80% of patients have a paraprotein (IgG lambda); low titer +ANA can be seen • 10% develop multiple myeloma
Curr Rheumatol Rep (2012) 14:39–46
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Leonine Facies of Scleromyxedema
Indian J Dermatol Venereol Leprol 2010;76:592
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Myxedema Facies
J Crows.com; Clinics in Dermatology (2006) 24, 247–255
Clinical Consequences: •Puffy Eyes •Broad Nose •Thickened Lips •Macroglossia
Pathology: Accumulation of matrix glycosaminoglycans in the interstitial spaces of many tissues with associated tissue water retention
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Case 4.
• A 63 year old man presents with tight, waxy skin over the dorsum of the hands. He complains of decreased grip strength and can no longer use a screwdriver for minor home repairs. He had noticed an area of cord-like, painless thickening of the skin in his right palm over the last several years.
• On physical examination, he is unable to bring the palms of his hands completely together.
• PMH: – poorly controlled non-insulin dependent diabetes
mellitus x 25 year
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anesthesiawiki.net; en.wikipedia.org
Prayer Sign Duputryn’s Contracture
Case 4. Skin biopsy Increased collagen
Reduced skin appendages
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The most likely diagnosis is
1. Scleroderma
2. Scleredema
3. Scleromyxedema
4. Limited Joint Mobility Syndrome
5. Eosinophilic Fasciitis
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Limited Joint Mobility Syndrome
(formerly Diabetic Cheiroarthropathy)
• Occurs in type 1 and type 2 diabetes • More common with more longstanding disease • ↑Glycosylated collagen→↑stiffness, ↓ degradation, ↑accumulation • Commonly affects joints of upper extremities and
feet, esp hands • Limited range of motion on physical examination • May be at greater risk for microangiopathy
elsewhere
Curr Rheumatol Rep (2012) 14:39–46
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What does Cheiro- Mean?
Cheiro = Hand
Cheiro William John Warner,
(November 1, 1866 – October 8, 1936) Irish astrologer Palm reader:
Thomas Edison, Mark Twain, Sarah Bernhardt, Mata Hari,
Oscar Wilde, Grover Cleveland…
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Limited Joint Mobility Syndrome
(formerly Diabetic Cheiroarthropathy)
• Occurs in type 1 and type 2 diabetes • More common with more longstanding disease • ↑Glycosylated collagen→↑stiffness, ↓ degradation, ↑accumulation • Commonly affects joints of upper extremities and
feet, esp hands • Limited range of motion on physical examination • May be at greater risk for microangiopathy
elsewhere
Curr Rheumatol Rep (2012) 14:39–46
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Case 5.
• A 47 year old woman presents with diffuse thickening of the skin of the arms and legs after beginning a rigorous program of daily running and weight lifting.
• On physical examination, the skin of the arms appears grossly normal at rest; when the arms are elevated, deep grooves become evident along the course of superficial veins
• The skin of the calves is indurated and has a peau d’orange appearance
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Case 5.
Groove Sign Peau d’Orange
American College of Rheumatology Image Bank
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Case 5. Skin Biopsy
A. Normal epidermis and dermis B. Normal subcutaneous fat C. Normal skeletal muscle D. Markedly thickened fascia E. Inflammatory infiltrates in fascia
E
American College of Rheumatology Image Bank
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The most likely diagnosis is
1. Scleroderma
2. Scleredema
3. Scleromyxedema
4. Limited Joint Mobility Syndrome
5. Eosinophilic Fasciitis
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Eosinophilic Fasciitis
• Middle age (40s, 50s) • Described after extreme exercise, trauma • Woody skin, edema and induration of extremities • Face, fingers spared • Limited range of motion at wrists and ankles with
fascial involvement • No internal organ involvement • Labs: eosinophilia, ↑ ESR/CRP,
hypergammaglobulinemia, ↑ aldolase • Rx: steroids, immunosuppressives
Curr Rheumatol Rep (2012) 14:39–46
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MRI in Eosinophilic Fasciitis
Gadolinium enhanced images of proximal thighs a. T1 weighted b. T2 weighted
Curr Opin Rheumatol 2013, 25:692–699
Normal
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Case 6.
• A 57 year old man presents with rapidly progressive, painful skin thickening in the feet and distal calves; at first, the skin seemed red, puffy and itchy; over time, the thickening moved up to the thighs then involved the hands, then forearms, then upper arms; eventually, shiny, brawny hyperpigmentation developed, epidermal atrophy and hair loss occurred in affected skin and flexion contractures of the digits began to appear
• PMH: – Hypertension x 20 years – Chronic kidney disease x 10 years – Hemodialysis x 5 years
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Case 6.
Best Practice & Research Clinical Rheumatology 26 (2012) 489–503
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Case 6. Skin Biopsy
Increased mucin and collagen Little inflammation
Curr Opin Rheumatol 2013, 25:692–699
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Nephrogenic Systemic Fibrosis
• Chronic kidney disease + gadolinium exposure
• Never involves face;
• No Raynaud’s, no periungual capillary dilatation,
no telangectasias
• Unique eye finding:
slightly raised, yellow plaques on the sclera, adjacent to the iris, often accompanied by conjunctival injection
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NSF: Eye Findings
Best Practice & Research Clinical Rheumatology 26 (2012) 489–503
Yellow scleral plaque with conjunctival injection
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Thickened Skin?
• Perform a skin biopsy • Evaluate for diabetes
– Scleredema (face) – Limited Joint Mobility Syndrome (hands)
• Evaluate for paraproteins – Scleredema (face) – Scleromyxedema (face & hands)
• Evaluate for eosinophilia – Eosinophilic fasciitis (extremities)
• Consider gadolinium exposure if chronic kidney disease is present – Nephrogenic systemic fibrosis (diffuse)
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Case 7.
• A 20 year old woman presents with knee and back pain that has progressively worsened over the last 2 years
• On physical examination, she has no warmth, erythema, swelling of any joints;
no knee effusions • She is able to touch her thumbs to her forearms;
she is able to extend her fingers to 90° at the MCPs; her elbows and knees extend beyond 180°; and she is able to touch her palms flat against the floor
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Case 7.
Up To Date;BMJ Best Practice
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The most likely diagnosis is
1. Marfan Syndrome
2. Ehlers Danlos Syndrome
3. Benign Joint Hypermobility Syndrome
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Hypermobility • Single Hypermobile Joint (15-20% of population)
• Generalized Hypermobile Joints (Beighton >4) – Asymptomatic
• 10-30% of population
• Large heritable component: monozygotic>>dizygotic
• Increased in ballet dancers, gymnasts
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Beighton > 4 “Generalized Hypermobile Joints” or
“Benign Joint Hypermobility Syndrome” or “Double Jointed”
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Beighton Criteria (score of 4/9 or more)
Pacey, V. et. al. "Joint Hypermobility Syndrome: A Review for Clinicians," Journal
of Paediatrics and Child Health (Royal Australian College of Physicians), July 2014.
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The Three Graces (1639) Peter Paul Rubens
Hyperlordosis
Scoliosis
Hip Abductor Weakness “Trendelenburg Sign”
Flat arches
Trendelenburg Sign: when R hip and R knee are flexed R hip drops due to L hip abductor weakness
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Hypermobility
• Benign Joint Hypermobility Syndrome – Arthralgia, use-related joint pain, myalgia,
dislocations
– ? ↑ Risk early OA
– Association with MVP, back pain, FM, TMJ, CTS, anxiety, cognitive impairment, palpitations, tremulousness, fatigue
– “Minor criteria” of “Marfanoid habitus”, “abnormal skin”, “eye abnormalities”, uterine or rectal prolapse make diagnosis difficult
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Differential Diagnosis: Hypermobility
• Marfan Syndrome
• Ehlers Danlos Syndrome
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Marfan Syndrome
• One of the most common inherited disorders of connective tissue, incidence of 1:3000-5000
• Autosomal dominant but 25% represent new gene mutations
• Fibrillin-1 (essential to normal elastic fibrillogenesis) gene mutations (~100) in most
• Transforming growth factor ß receptor mutation in 10% (premature fusion of the skull, widely spaced eyes, cleft palate, split uvula, tortuous arteries, aortic rupture, structural heart disease)
• Considerable variability in phenotype
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Major Criteria for Marfan Syndrome
• Skeletal system features (NEED 4): – Reduced upper to lower body segment ratio or
arm span exceeding height – Arachnodactyly of fingers and toes, with positive
thumb and wrist signs – Scoliosis >20º or spondylolisthesis – Medial displacement of the medial malleolus
causing pes planus – Reduced extension at the elbows (<170º) – Pectus carinatum – Pectus excavatum requiring surgery – Protrusio acetabuli of any degree (ascertained on
radiographs)
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Illustrative of the finding; no implication regarding genetics should be drawn!
Arm Span Exceeding Height
6’ 4”
6’ 7”
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Major Criteria for Marfan Syndrome
• Skeletal system features (NEED 4): – Reduced upper to lower body segment ratio or
arm span exceeding height – Arachnodactyly of fingers and toes, with positive
thumb and wrist signs – Scoliosis >20º or spondylolisthesis – Medial displacement of the medial malleolus
causing pes planus – Reduced extension at the elbows (<170º) – Pectus carinatum – Pectus excavatum requiring surgery – Protrusio acetabuli of any degree (ascertained on
radiographs)
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Ha HI et al RadioGraphics 2007;27:989-1004 Med J Austral 2006;184:627-631
Positive Thumb Sign
Positive Wrist Sign
Arachnodactyly
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Major Criteria for Marfan Syndrome
• Skeletal system features (NEED 4): – Reduced upper to lower body segment ratio or
arm span exceeding height – Arachnodactyly of fingers and toes, with positive
thumb and wrist signs – Scoliosis >20º or spondylolisthesis – Medial displacement of the medial malleolus
causing pes planus – Reduced extension at the elbows (<170º) – Pectus carinatum – Pectus excavatum requiring surgery – Protrusio acetabuli of any degree (ascertained on
radiographs)
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Scoliosis
Spondylolisthesis
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Major Criteria for Marfan Syndrome
• Skeletal system features (NEED 4): – Reduced upper to lower body segment ratio or
arm span exceeding height – Arachnodactyly of fingers and toes, with positive
thumb and wrist signs – Scoliosis >20º or spondylolisthesis – Medial displacement of the medial malleolus
causing pes planus – Reduced extension at the elbows (<170º) – Pectus carinatum – Pectus excavatum requiring surgery – Protrusio acetabuli of any degree (ascertained on
radiographs)
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Medial Displacement of Medial Malleolus →Pes Planus (“flat feet”)
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Major Criteria for Marfan Syndrome
• Skeletal system features (NEED 4): – Reduced upper to lower body segment ratio or
arm span exceeding height – Arachnodactyly of fingers and toes, with positive
thumb and wrist signs – Scoliosis >20º or spondylolisthesis – Medial displacement of the medial malleolus
causing pes planus – Reduced extension at the elbows (<170º) – Pectus carinatum – Pectus excavatum requiring surgery – Protrusio acetabuli of any degree (ascertained on
radiographs)
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Reduced Extension of the Elbow
The opposite of Benign Hypermobility Syndrome…….
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Major Criteria for Marfan Syndrome
• Skeletal system features (NEED 4): – Reduced upper to lower body segment ratio or
arm span exceeding height – Arachnodactyly of fingers and toes, with positive
thumb and wrist signs – Scoliosis >20º or spondylolisthesis – Medial displacement of the medial malleolus
causing pes planus – Reduced extension at the elbows (<170º) – Pectus carinatum – Pectus excavatum requiring surgery – Protrusio acetabuli of any degree (ascertained on
radiographs)
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Pectus carinatum Pectus excavatum
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Major Criteria for Marfan Syndrome
• Skeletal system features (NEED 4): – Reduced upper to lower body segment ratio or
arm span exceeding height – Arachnodactyly of fingers and toes, with positive
thumb and wrist signs – Scoliosis >20º or spondylolisthesis – Medial displacement of the medial malleolus
causing pes planus – Reduced extension at the elbows (<170º) – Pectus carinatum – Pectus excavatum requiring surgery – Protrusio acetabuli of any degree (ascertained on
radiographs)
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Protrusio Acetabuli
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Major Criteria for Marfan Syndrome • Cardiovascular system feature (NEED 1):
– dilation of the aorta involving the sinuses of Valsalva with or without aortic regurgitation
– ascending aortic dissection
• Ocular system feature: Ectopia lentis (detected by slit lamp examination) • Dura feature: Dural ectasia (detected by CT or MRI)
www.gfmer.ch/genetic diseases; www.medstudents.com.br; Westaby S Nature Clinical Practice Cardiovascular Medicine 2009;6:172-175
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Major Criteria for Marfan Syndrome
• Family or genetic history (NEED 1): 1st degree relative who meets diagnostic criteria OR presence of FBN1 mutation known to cause the Marfan syndrome OR presence of a haplotype around FBN1
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Ehlers Danlos Syndrome
• Group of genetic diseases characterized by joint hypermobility, skin hyperextensibility, tissue fragility
• Incidence 1 in 5000-20,000
• Mutations in collagen genes affecting synthesis and processing
• Multiple subtypes
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Classic EDS
• Hypermobility by Beighton Score (≥4/9) • Recurrent joint dislocations • Subluxations of shoulder, patella, and
temporomandibular joints • Joint effusions, pain • Scoliosis • Early OA (same as in Hypermobility EDS)
• Doughy, hyperextensible skin
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Vascular EDS
• Absence of large joint hypermobility
• Mild skin hyperextensibility
• Risk of vascular or visceral rupture is 80% by age 40
• Can mimic large or medium vessel vasculitis
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Fig. 1. a; MRI of the head, axial T2-weighted Turbo Spin Echo sequence shows the presence of the dissection of the left internal
carotid artery (arrows), b; MRA of the neck, coronal view, shows the dissection of the vertical part of the left vertebral artery (...
Georgios Makrygiannis, Bart Loeys, Jean-Olivier Defraigne, Natzi Sakalihasan
Cervical artery dissections and type A aortic dissection in a family with a novel missense COL3A1 mutation of vascular
type Ehlers–Danlos syndrome
European Journal of Medical Genetics, Volume 58, Issue 11, 2015, 634–636
http://dx.doi.org/10.1016/j.ejmg.2015.10.009
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Fig 3. Celiac artery aneurysm. Preoperative selective arteriogram of (A) a poststenotic celiac artery aneurysm and (B) a
postoperative computed tomographic arteriography image after resection and primary end to end anastomosis of the proximal
hepatic to proxim...
Frank M. Davis, Jonathan L. Eliason, Santhi K. Ganesh, Neal B. Blatt, James C. Stanley, Dawn M. Coleman
Pediatric nonaortic arterial aneurysms
Journal of Vascular Surgery, Volume 63, Issue 2, 2016, 466–476.e1
http://dx.doi.org/10.1016/j.jvs.2015.08.099
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Marfan vs EDS
Marfan
• Joint hypermobility
• Scoliosis
• Disproportionate tall stature
• Dislocation of the lens
• Pectus carinatum
• Progressive aortic dilatation
Classic or Hypermobility EDS
• Joint hypermobility
• Scoliosis
• Mild aortic dilatation
UpToDate
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When to Seek Genetics Consultation
• Joint hypermobility, multiple joint dislocations
• Translucent skin, poor wound healing, easy bruising, and unusual scars
• Spontaneous rupture of an organ or dissection of a blood vessel
• Family history
Up To Date
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Case 8.
43 year old man presents with a 3 week history of purpuric skin lesions on the extremities that progresses to ulceration and necrosis
ROS: No fever, conjunctival injection, visual symptoms, rhinorrhea, nasal congestion,
sinus pain or discharge, epistaxis, ear fullness, cough, SOB, CP, hemoptysis
PMH: none
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Case 8. Physical Examination: Lesion on Thigh
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Case 8. Laboratory Studies
ESR 28 ANA negative
CRP 48.3 Cryoglobulins negative
C4 16 Normal C3, CBC, CK
pANCA + >1:640 Creatinine 1.28
MPO+ UA 3+ protein, 1+ blood
Skin biopsy: acute neutrophilic necrotizing vasculitis involving the small and medium-vessel with fibrinoid necrosis , immunofluorescence + C3 + IgM granular staining dermal vessels
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Case 8. Course
• Started on prednisone 60 mg daily
• Tapered over a 2 week period
• 5 weeks later, “dark spots” appear on ears and resolve
• 6 weeks later, painful pink lesions appear on ears and lower extremities
• Lesions progress to purple then black, some form hemorrhagic bullae
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Case 8. Physical Examination 6 Weeks Later: Lesions on Extremities, Ear
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Case 8. Laboratory Studies Second Admission
ESR 43
pANCA+ 1:640 Creatinine 1.54
MPO+ UA 3+ protein, 1+ blood
Yachoui, Kolasinski, Eid. J Clin Med Res 2012;4(5):358-359
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Levamisole-Induced Vasculitis
• 70% of cocaine in US cut with levamisole
• Associated with ANCA+ vasculitis
• Most common manifestations:
arthralgia, skin lesions
• Most have constitutional symptoms:
fever, night sweats, weight loss, myalgias
• 100% ANCA+ MPO+, 70% ANCA + PR3+
• Leukopenia, hematuria, proteinuria seen
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ANCA can be positive in other disorders
• Preeclampsia and eclampsia
• Acute infectious mononucleosis • Acute parvovirus B19 infection • Leprosy • Malaria • Subacute bacterial endocarditis
• Cocaine-induced osteochondral destruction (cocaine-induced midline destructive lesions) • Buerger's disease • Diffuse alveolar hemorrhage • Chronic graft-versus-host disease • Autoimmune hepatitis • Crohn’s disease, ulcerative colitis
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Is It Large Vessel Vasculitis?
• Review family history:
– Marfan, Vascular EDS
• Rule out infection:
– Blood cultures, echocardiogram
– PPD, HIV
• Adequately image the involved vasculature
– MRI/MRA
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Case 9.
• 59 year old man with prior history of drug and alcohol abuse presents with recurrent pancreatitis
• Following Whipple procedure developed postoperative gout
• One year later, diagnosed with retroperitoneal fibrosis
• Asked for re-review of surgical specimen
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IgG4 Related Disease
• New category for poorly understood group of disorders previously thought unrelated
• Share tumor-like swelling of involved organs due to lymphoplasmacytic infiltrate enriched in IgG4+ plasma cells + variable degrees of fibrosis with characteristic “storiform” pattern
• ↑ serum IgG4
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What does “storiform” mean?
The Rheumatologist, January 2013;Pathology International25 JAN 2016 DOI: 10.1111/pin.12386
Storiform fibrosis (collagen staining blue)
“cartwheel”
“straw mat”
Renal Biopsy
Mesenteric Biopsy
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IgG4 Related Disease
• Autoimmune pancreatitis
• IgG4 Related – Orbital pseudolymphoma
– Chronic sclerosing sialadenitis
(Sjogren’s-like disease)
– Mediastinitis
– Cholangitis
– Inflammatory bowel disease
– Retroperitoneal fibrosis, periaortitis
– Tubulointerstitial nephritis
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IgG4 Related Autoimmune Pancreatitis
• Pancreatic mass • Mild abdominal pain with or without attacks of acute
pancreatitis and chronic pancreatitis • Pancreatic duct strictures • Peripancreatic vascular complications
• Dx (“HISORt” Criteria):
– Diagnostic Histology – Characteristic Imaging on computed tomography and/or
pancreatography – Elevated serum IgG4 levels on Serologic testing – Other organ involvement (sialadenitis, retroperitoneal fibrosis) – Response of pancreatic and extrapancreatic manifestations to
glucocorticoid therapy
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Gross specimen: Pancreatic mass in pancreas affected by IgG4 autoimmune pancreatitis
Microscopic specimen: Biliary obstruction due to periductal lymphoplasmacytic infiltrate
Up To Date
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IgG4 Related Disease
• Autoimmune pancreatitis
• IgG4 Related – Chronic sclerosing sialadenitis
(Sjogren’s-like disease)
– Orbital pseudolymphoma
– Mediastinitis
– Cholangitis
– Inflammatory bowel disease
– Retroperitoneal fibrosis, periaortitis
– Tubulointerstitial nephritis
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IgG4 Related Chronic Sclerosing Sialadenitis
Chronic sialidenitis
Salivary gland biopsy: Large germinal centers (arrow), dense lymphoplasmacytic inflammation, Storiform fibrosis: cellular fibro-inflammatory stroma (arrowhead) Up To Date
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Case 9: Review of Surgical Pathology
• Pancreas: mild chronic inflammation, mostly normal
• CBD: chronic inflammation
• Nonspecific chronic cholangitis
• Peripancreatic lymph node: normal
• Portal lymph nodes:
numerous non-caseating epithelioid granulomas suggestive of sarcoidosis
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Sarcoidosis and Rheumatic Disease
• Multisystem disease, fatigue
• Lofgren’s (acute ankle periarthritis, erythema nodosa, hilar nodes)
• Hand tenosynovitis
• Sarcoid myopathy (acute and chronic)
• Osseous sarcoidosis (hands, feet)
• Co-occurrence with rheumatic disease (SLE, Sjogren’s, SS, PM, IBM, AS, vasculitis)
• Drug-induced (TNFα inhibitors, interferonα)
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Evaluation for Sarcoidosis
• History, including occupational and environmental exposure
• Physical examination • PA chest radiograph • PFTs, including spirometry and DLCO • CBC • Serum chemistries, including creatinine, calcium, LFTs • Urinalysis • Electrocardiogram • Routine ophthalmologic examination • PPD
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Consider biopsy of the involved tissue
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Summary
• Abnormal skin findings:
what is the distribution?
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Scleredema Neck, Upper Back
Shoulders
Scleromyxedema Face, Neck,
Upper Trunk, Arms, Hands
Eosinophilic Fasciitis Extremities
Nephrogenic Systemic Fibrosis
Body other than Face
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Summary
• Abnormal skin findings: get skin biopsy – Skin biopsy findings:
• Collagen – Increased: scleroderma – Increased gylcosylated collagen: limited joint mobility syndrome
(diabetes)
• Mucin – Increased: scleredema – With fibroblasts: scleromyxedema – With increased collagen: nephrogenic systemic fibrosis
• Glycosaminoglycans – Increased: myxedema
• Eosinophils – Increased: eosinophilic fasciitis
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Summary
• Hypermobility: other organs systems?
–Absence of internal organ involvement: • Hypermobile Joint
• Benign Hypermobility Syndrome
– Elongated limbs and digits:
• Marfan
– Skin hyperextensibility:
• Ehlers Danlos
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Summary
• Vasculitis Mimics
– Rule out infection and malignancy
– Tissue biopsy
• IgG 4 Related Disease
– Serum IgG 4
– Tissue biopsy
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Thank You! Questions?