CONNECTIVE TISSUE DISORDERS Flashcards
1
Q
Mention 3 functions of connective tissues?
A
They give metabolic support to cells serving as the medium for diffusion of nutrients and waste products.
It gives the body’s tissues and organs strength, form and flexibility.
They also aid in the special functions of certain tissues; like the ability to move in the joints.
2
Q
Connective tissue is made up mainly of what?
A
Ground substance
Fibres
3
Q
Connective tissue is made up mainly of what?
A
Ground substance
Fibres
4
Q
What are connective tissue disorders?
A
Connective tissue d/o comprise of a heterogeneous group of autoimmune responses that target of affect collagen or ground substance.
5
Q
Mention the 2 types of connective tissue disorders?
A
Heritable CTD
Auto-immune CTD
6
Q
Outline 5 examples of heritable CTD?
A
MARFAN SYNDROME
OSTEOGENESIS IMPERFECTA
STICKLER SYNDROME
EHLERS-DANLOS SYNDROME
PSEUDOXANTHOMA ELASTICUM
7
Q
Itemize 4 autoimmune CTD with skin manifestations?
A
LUPUS ERYTHEMATOSUS
SCLERODERMA
DERMATOMYOSITIS
MIXED CONNECTIVE TISSUE DISEASE.
8
Q
Mention 5 other autoimmune conditions you know?
A
Rheumatoid Arthritis Behcet’s Syndrome Panniculitis Polyarteritis Nodosa Relapsing Polychronditis
9
Q
cutaneous disease never occurs without systemic involvement in lupus Erythrmatosus (T/F)?
A
False!
cutaneous disease may occur with or without systemic involvement.
10
Q
LE may manifest as a systemic disease or in purely cutaneous forms (T/F)?
A
True!
11
Q
chronic skin lesions often equate with purely cutaneous disease in lupus Erythrmatosus (T/F)?
A
False!
chronic skin lesions DO NOT equate with purely cutaneous disease.
12
Q
Some patients with LE may show features of more than one type (T/F) ?
A
True!
13
Q
Classify the cutaneous manifestations seen in LE?
A
CHRONIC cutaneous LE
SUBACUTE cutaneous LE
ACUTE cutaneous LE
14
Q
Itemize 6 subtypes of chronic cutaneous LE?
A
A. Discoid Lupus Erythematosus B. Verrucous (hypertrophic) LE C. Lupus erythematosus–lichen planus overlap D. Chilblain Lupus Erythematosus E. Tumid lupus F. Lupus panniculitis (LE profundus)
15
Q
Neonatal LE and Complement deficiency syndromes exhibit morphology similar to acute cutaneous LE (T/F) ?
A
False
It’s sub-acute cutaneous LE!
16
Q
Outline 3 examples of sub-acute cutaneous LE?
A
A. Papulosquamous B. Annular C. Syndromes commonly exhibiting similar morphology *Neonatal LE *Complement deficiency syndromes *Drug induced.
17
Q
Drug induced LE is a subtype of chronic cutaneous LE (T/F)?
A
False!
It’s sub-acute cutaneous LE!
18
Q
Acute cutaneous LE is generally associated with Systemic Lupus Erythematosus (T/F)?
A
True!
19
Q
localized or generalized erythema or bullae may be seen in acute cutaneous LE? (T/F)?
A
True!
20
Q
What is the most common type of lupus erythematosus seen by dermatologists ?
A
Chronic DLE!
21
Q
DLE is a very malignant skin condition (T/F)?
A
False!
This is a benign disorder of the skin
22
Q
DLE It is an acute benign disorder of the skin (T/F)?
A
False
It’s a chronic disorder
23
Q
DLE most frequently involves which body area?
A
The face!
24
Q
How would you describe a DLE lesion?
A
DLE is characterized by well-defined erythematous scaly patches of variable size
25
DLE lesions rarely heal with scarring (T/F)?
False
| It heals with atrophy, scarring, and pigmentary changes
26
What sex is mostly affected by DLE?
FEMALES!
| greater than Male 2:1
27
What is the peak age of onset of DLE?
in the 4th decade of life
28
50% of DLE cases will go on to develop systemic lupus erythematosus (T/F)?
False!
| Only 5% of cases will go on to develop systemic lupus erythematosus
29
Genetic and environmental factors have been implicated in the etiology of DLE (T/F)?
Very True!
30
What genes have been implicated in the etiology of DLE?
```
Genetic:
HLA B7
HLA B8.
HLACW7.
HLADR2
HLADR3.
HLADQw1
```
*A family history was found in some cases
31
Viral infections may have a role in the etiology of DLE (T/F)? What virus?
True!
| Reovirus
32
Emotional factors, worry, anxiety may lead to exacerbation of DLE lesions (T/F)?
Very true!
33
Mention 10 environmental factors that can precipitate the onset of DLE lesions?
```
Trauma
Mental stress
Pregnancy
Sunburn
Infection
Exposure to cold
Laser therapy
psoralen and UVA (PUVA) therapy
Xrays
Diathermy
Chemical burns
```
34
Laser therapy and psoralen and UVA (PUVA) therapy may be useful in the treatment of DLE lesions (T/F)?
Very false!
| They precipitate DLE lesions
35
Hydropic degeneration of the basal cell layer of the epidermis and follicular epithelium is a characteristic finding seen in drug induced LE (T/F)?
False
| It's seen in DLE!
36
What characteristic finding is seen in the Epidermis of ptx with DLE?
effacement of the rete ridge pattern or irregular acanthosis.
37
Mention 3 Degenerative changes in the connective tissue seen in DLE? And where are they mostly markedly seen?
hyalinization
oedema
Fibrinoid change
most marked immediately below the epidermis.
38
"A patchy dermal lymphocytic infiltrate with a few plasma cells and histiocytes, particularly around the appendages, which may be atrophic" is the correct microscopic finding seen in what condition?
DLE!
39
Mention 3 microscopic skin changes seen in DLE?
Thinning and pallor of the epidermis with relative hyperkeratosis and plugging of the follicular orifices
Thickening of the basement membrane of the epidermis and sometimes of small vessels
Premature elastotic degeneration of collagen in light-exposed areas.
40
Parakeratosis is a characteristic finding seen in DLE (T/F)?
False!
| It's hyperkeratosis
41
Histological findings in DLE may also be seen in uninvolved skin (T/F)?
False
| Do not occur in uninvolved skin, unlike majority of cases of SLE
42
State 2 Immunohistological findings seen in DLE?
Presence of immunoglobulins IgG, IgA, IgM and complement at the DEJ, in skin lesions present for 6 weeks or more in approximately 80% of patients.
Homogenous granular or thread pattern.
43
Homogenous granular or thread pattern is a characteristic immunohistological finding in drug induced LE (T/F)?
False
| It's seen in DLE
44
Outline the anti-cardiolipin antibodies seen in DLE? for how long can they be found within lesions? And in what % of ptx?
IgG, IgA, IgM and complement
for 6 weeks or more
in approximately 80% of patients.
45
DLE lesions usually begins as a Fixed irregular erythematous, violaceous, scaly macules or plaques of similar sizes (T/F)?
False
| Lesions are usually well-defined and are if variable sizes!
46
DLE lesions are usually localized below the neck (T/F)?
False
| ABOVE the neck!
47
What are the Favoured sites seen in DLE?
```
Scalp
bridge of nose
malar areas
lower lip
ears(concha and external canal)
```
48
Itemize 5 cardinal features of DLE lesions?
```
Erythema and telangiectasia
Adherent scales
Patulous hair follicles
hyperkeratotic plugging of the follicles
Scarring and atrophy
Post-inflammatory dyschromia (both hyperpigmentation and depigmentation)
```
49
langue au chat(cat’s tongue sign) is a characteristic finding seen in what condition? What does it describe?
Seen in DLE lesions!
Describes hyperkeratotic plugging of the hair follicles producing carpet tack-like spines on the undersurface of the scale
50
Scalp involvement in DLE leads to non cecatricial alopecia (T/F)?
False
| Scalp involvement leads to scarring/cecatricial Alopecia!
51
ORAL INVOLVEMENT(erythematous patches or ulceration) occurs in 50% of cases (T/F)?
False!
| 25% of cases
52
Disseminated DLE is most commonly seen in what group of ptx?
Women who are usually cigarette smokers
53
Itching and tenderness are rare findings in DLE and may often be severe (T/F)?
False
| Itching and tenderness are COMMON and may RARELY be severe.
54
erythematous patches or ulceration may be seen in ptx with DLE (T/F)?
True!
55
What is a rare complication seen in long-standing lesions of DLE ?
aggressive squamous cell carcinoma
56
Outline 3 Nail changes seen in DLE?
subungual hyperkeratosis
red-blue coloring of nail plate
longitudinal striae & crumbling nails
57
Nail changes may be successfully treated with what drug?
Chloroquine!
58
Calcifications may occur in plaques seen in DLE (T/F)?
True!
59
Follicular plugging is a characteristic finding seen in DLE (T/F)?
Very true!
60
The active stage of DLE lesions is usually associated with severe degree of scaling (T/F)?
True!
61
Hypopigmentation is a feature of post inflammatory DLE (T/F)?
True!
| And hyperpigmentation too
62
What are the goals of management of DLE lesions?
to improve the patient's appearance
to control existing lesions and limit scarring
to prevent the development of further lesions.
63
Blood tests are usually normal in DLE (T/F)?
True!
64
In what % of cases do serum of DLE ptx occasionally contain antinuclear antibodies?
in 30% of cases
65
How would you manage a ptx diagnosed with DLE?
```
History taking and examination
Investigations
*Skin biopsy
*Direct immunofluorescence.
*Blood tests
*other baseline investigations e.g PCV, FBC, EUC, LFTs, ESR, TFTs etcTo R/o systemic involvement
```
66
How would you treat DLE?
General measures:
* avoid precipitating factors
* Sunscreens
TOPICAL STEROIDS
0. 025% or 2% FLUOCINOLONE cream
0. 1% BETAMETHASONE 17-valerate cream
0. 2% FLUOCINOLONE
0. 05% CLOBETASOL PROPIONATE cream
INTRALESIONAL CORTICOSTEROID INJECTIONS
5-10mg/ml TRIAMCINOLONE ACETONIDE at 6 weekly intervals.
* IFN-alpha.
* Painting small lesions with TRICHLOROACETIC ACID
* CARBONDIOXIDE LASER and both the pulsed-dye and ARGON LASER may be valuable for telangiectasia lupus erythematosus.
ORAL THERAPY
```
Oral PREDNISOLONE
ANTIMALARIALS(hydroxyquinone, chloroquine, mepacrine)
AURANOFIN
ACITRETIN
ETRETINATE
ISOTRETINOIN
DAPSONE
oral METHOTREXATE
oral THALIDOMIDE
CLOFAZIMINE(Lamprene)
SULFASALAZINE
```
* 0.5mg/kg prednisolone rapidly tapered over 6weeks
* antimalarials such as hydroxychloroquine 200mg twice daily then reduced to 200mg/day once a response is achieved.
* isotretinoin 20-80mg/day
* thalidomide have proved helpful in resistant cases
```
For long standing lesions
auranofin 6-9mg
Etretinate 1mg/kg/day combined with chloroquine in chronic hyperkeratotic lesions
Dapsone 100mg/day can be used
thalidomide
```
67
Sub-acute cutaneous LE is a fairly common condition. (T/F)?
False
| It's rare
68
Patients sub-acute cutaneous LE exhibit mainly systemic disease (T/F)?
False
| Mainly cutaneous manifestations!
69
Sub-acute cutaneous LE is often associated with systemic disease (T/F)?
True
70
Sub-acute cutaneous LE has a poor prognosis (T/F)?
False
| Good prognosis
71
Sub-acute cutaneous LE is is a dx of unknown etiology (T/F)?
True
| It's specific cause is unknown
72
What is almost a universal finding in sub-acute cutaneous LE?
antibodies to R₀/SS-A antigen
73
What sex is mostly affected by sub-acute cutaneous LE?
Most often women
74
What age group is most commonly affected in sub-acute cutaneous LE?
Age is between 15 – 40years
75
What % of the LE population constitutes sub-acute cutaneous LE?
Approximately 10-15%
76
What environmental factor may explain the pathogenesis of sub-acute cutaneous LE?
ultraviolet light exposure (photosensitive lupus)
77
The most common haplotype in SCLE is what?
HLA-DR3 with HLA-B8.
78
Itemize 5 drugs which have been reported to precipitate or exacerbate SCLE ?
```
thiazide diuretics
griseofulvin
terbinafine
cinnazarine
calcium channel blockers
etanercept
```
79
Telangiectasia or dyspigmentation are characteristic findings seen in chronic DLE and sub-acute cutaneous LE (T/F)?
Very true!
80
SCLE lesions tend to be transient or migratory but may heal with scarring (T/F)?
False
| Heals without scarring !
81
SCLE lesions rarely occur in sun-exposed areas (T/F)?
False
| They occur in sun exposed areas
82
What are the preferred body areas affected by SCLE?
```
Above the waist and particularly around the neck
on the trunk
on the outer aspects of the arms
Shoulders
Chest
back
extensor surfaces of the arms
```
83
SCLE lesions typically occur below the waist and particularly around the neck (T/F)?
False
| ABOVE the waist and particularly around the neck
84
Itemize 3 morphological features of s SCLE lesion
* Lesions are scaly and evolve as annular polycyclic lesions or psoriasiform plaques
* Scale is thin and easily detached.
* Lesions vary from red to pink with faint violet tones.
* Borders may show vesiculation and crusting
85
Like DLE, facial involvement is common in SCLE (T/F)?
False
| Facial involvement is uncommon!
86
Concomitant DLE is a common finding in sub-acute cutaneous LE (T/F)?
False
| Present in 20% of cases!
87
Majority of patients with SCLE have arthralgia or arthritis (T/F)?
True
| ¾ of patients have arthralgia or arthritis.
88
Athralgia and arthritis is a common finding in chronic DLE (T/F)?
False
| It's sub-acute cutaneous LE!
89
Fever, malaise and central nervous system involvement and renal disease are common findings in SCLE (T/F)?
False
| Renal disease is mild and infrequent.
90
Occasionally patient develop overt systemic lupus with severe visceral disease in chronic DLE (T/F)?
False
| It's sub-acute cutaneous LE!
91
How can SCLE be differentiated from chronic DLE ?
* Presence of more epidermal atrophy
* LESS -- hyperkeratosis, basement membrane thickening, follicular plugging and inflammatory infiltration.
* Colloid bodies and epidermal necrosis are present in more than 50% especially in those with R₀/SS-A antibodies.
92
The epidermis may show minor atrophy and vacuolar changes while the dermal lymphocytic infiltrate is usually sparse correctly describes what?
Sub-acute cutaneous LE!
93
How would you treat SCLE?
This condition is controlled by sunscreen in most patients.
| Topical treatment is the same as that of discoid lupus erythematosus.
94
SLE most commonly affects?
the skin, joints and vasculature.
95
SLE is associated with certain immunological abnormalities (T/F)?
True!
96
Has a worldwide distribution (1 in 1000) and is equally found in blacks and white (T/F)?
False
| appears to be three times more in blacks than whites (black>white – 3:1)
97
What sex is affected more in SLE?
Females!
F>M- 8:1
Occurs in early adult life
98
The Aetiology of SLE is generally unknown (T/F)?
True!
99
What is the mode of inheritance of SLE?
Multifactorial
* genetic factors
* environmental factors
* hormonal factors
100
Itemize the hereditary factors that increase susceptibility to SLE?
hereditary factors
* complement deficiency
* certain HLA types ---- (HLA-B8, HLADR3, HLA-A1 and HLA–DR2)
101
What constitutes the hallmark of SLE ?
Non organ specific humoral autoantibodies
102
Mention 2 antibodies that are specific for SLE?
Anti- Sm and anti-ds DNA
103
Mention 5 precipitating factors of SLE?
```
Exposure to sunlight/ultraviolet radiations
Streptococcal
Viral infections e.g EBV CMV, HIV
Pregnancy
Hormonal
Certain drugs
*hydralazine
*methyldopa
*procainamide
*minocycle
*anticonvulsants (carbamazepine, vaproate)
*D-penicillamine
*oral contraceptives
Chemicals such as L-canavanine
```
104
Itemize 5 primary lesions seen in SLE?
```
Fibrinoid necrosis
Collagen sclerosis
Necrosis
Basophilic body formation
Vascular endothelial thickening
```
105
Immunohistological findings in SLE will reveal what?
Immunohistologically, IgG is predominant but less frequently IgA & IgM, together with complement (C1, C3) can be demonstrated at the DEJ.
106
What do s the predominant non-organ specific humoral antibody found in SLE?
IgG!
107
In SLE, Immunohistological findings is not seen in uninvolved skin (T/F)
False
| It's seen in uninvolved skin unlike chronic DLE
108
In SLE, Immunohistological findings are commonly seen in lesions only (T/F)?
False
| It's also seen in sun exposed areas
109
What are the Constitutional features seen in SLE?
```
fatigue
fever
malaise
Myalgia
Arthralgia
weight loss
```
110
Itemize 10 cutaneous features seen in SLE?
```
Photosensitivity
Raynaud phenomenon
Butterfly rash
Chronic Urticaria
Non scarring Alopecia
Mouth Ulcerations
Chronic Discoid LE
Chilblain Lupus
Scarring DLE alopecia
Cutaneous Vasculitis
Bullous eruptions
Subacute Lupus Erythematous
Facial oedema
Livedo reticularis
Episcleritis
Cheilitis
```
111
In what % of ptx with SLE is the butterfly malaria rash seen?
50%
112
The characteristic cutaneous rash of SLE is commonly seen in what body areas?
forehead
periorbital area
sides of the neck
Cheek
113
Scarring and non-scarring Alopecia are features of SLE (T/F)?
True!
114
Outline 3 hands and feet lesions seen in SLE?
reticular telangiectasia
nail folds may show hyperkeratotic and rugged cuticles
splinter haemorrhages.
115
What type of arthritis is seen in SLE?
inflammatory, symmetric, nonerosive!
116
Itemize 4 haematologic changes seen in SLE?
```
Anemia (may be hemolytic)
neutropenia
thrombocytopenia
lymphadenopathy
splenomegaly
venous or arterial thrombosis
```
117
Itemize 4 cardiopulmonary changes seen in SLE?
pleuritis
pericarditis
myocarditis
endocarditis
118
What gastrointestinal change is associated with SLE?
Peritonitis!
119
Outline 3 neurological changes seen in SLE?
organic brain syndromes
seizures
psychosis
120
Mention 4 systemic diseases associated with SLE?
```
rheumatoid arthritis
systemic sclerosis
lichen sclerosus
morphea
sjogren syndrome
```
121
State the 11 ACR CRITERIA required for the diagnosis of SLE?
```
SOAP BRAIN MD*
Serositis (pleurisy, Pericarditis)
Oral/nasal ulcers (painless)
Arthritis/Arthralgia(non-erosive)
Photosensitivity (skin)
Blood (cytopenia)
Renal involvement
ANA
Immune (typical antibodies e.g. dsDNA, anti-Sm) Neurologic (e.g. Seizures, stroke)
Malar rash
Discoid rash
```
122
How many out of the 11 ACR criteria is required to make a diagnosis of SLE?
4!
123
In the MGT of SLE, what would you look for in the history?
* Complete drug hx
* Provocation/aggravation of skin eruptions through sunlight exposure
* Chest pain
* Joint pain
* Numbness and pain in the fingers in the cold(sugg. of Raynaud Phenomenon)
* Cvs symptoms-dypsnea
* Seizures(indicating CNS involvement)
* Menstrual abnormalities
* proteinuria etc.
124
What % of ptx with SLE have associated rheumatoid arthritis presenting as joint pain?
90%
125
What would you be looking for in the physical examination of a ptx with SLE?
Classical ‘butterfly’ rash over nose and cheek(50%)
Appearance of erythematous rash in sun-exposed areas
Discoid lesions(occasionally)
Patchy alopecia
Other signs of internal diseases
126
How would you investigate and ptx with SLE?
```
HAEMATOLOGY
Anaemia, Chk PCV
raised ESR
thrombocytopenia ( Do FBC)
decreased white cell count
```
* Biopsy of skin lesions
* Direct immunoflourescence
* Immunological tests
* Urinalysis
* LFTs
* Renal fxn tests/EUC
127
What would skin biopsy in a ptx with SLE reveal?
some thinning of the epidermis
liquefaction degeneration of epidermal basal cells and
A mild Perivascular mononuclear cell infiltrate.
128
What would direct immunoflourescence in SLE reveal?
IgG, IgM, IgA and C3 are found individually or together in a band-like pattern at the dermo-epidermal junction of involved skin and often uninvolved skin as well
129
What would immunological tests in SLE reveal?
```
Antinuclear antibody,
Antibodies to double-stranded dna,
Low total complement level,
Anti-sm antibody
Antiphospholipid antibody
```
130
What would urinalysis in SLE reveal?
Proteinuria or haematuria, often with casts if kidneys involved
131
The function of what organs must always be tested in suspected case of SLE?
Always test KIDNEY and LIVER function!
*Tests for function of other organs as indicated by history.
132
Systemic steroid is the definitive cure for SLE (T/F)?
False
| There's no definitive cure for SLE!
133
What is the aim of treatment in SLE?
Aim is to maintain optimal function with minimal therapy!
134
What are the treatment options for SLE?
NON-PHARMACOLOGIC Tx
*Patients with photosensitivity should avoid sunlight and use high-factor sunscreens
PHARMACOLOGIC Tx
Systemic steroids are the mainstay of treatment!
oral corticosteroids
*PREDNISOLONE 60mg/d, tapered to 5-15mg/d.
INTRALESIONAL CORTICOSTEROIDS
* 1% xylocaine
* saline triamcinolone acetonide(kenalog)
NSAIDs (e.g., ibuprofen,aspirin)
IMMUNOSUPPRESSIVE AGENTS
* azathioprine
* cyclophosphamide
* dapsone
* other drugs (e.g. antihypertensive therapy or anticonvulsants) may also be needed.
ANTIMALARIAL DRUGS may help some patients with marked photosensitivity, as may sunscreens.
Long-term and regular follow-up is necessary!
135
Mention 5 differentials of SLE?
```
Malaria
Polymyositis
Scleroderma
Mixed connective tissue disease
Rheumatoid Arthritis
Sjogren’s syndrome
Lyme disease
Antiphospholipid syndrome
```
136
The appearance of circumscribed or diffuse, hard, smooth, ivory-colored areas that are immobile and give the appearance of "hidebound skin" is characteristically of what?
SCLERODERMA!
137
Scleroderma is the thickening or hardening of the skin owing to what?
Abnormal dermal collagen!
138
Scleroderma is not a diagnostic entity in itself (T/F)?
True
139
In what 2 forms does scleroderma occur?
localized and systemic forms
140
Outline the types of cutaneous scleroderma?
1) morphea
* localized
* generalized
* profunda
* atrophic
* pansclerotic types
2)linear scleroderma (with or without melorheostosis or hemiatrophy).
141
Outline the 2 main types of systemic scleroderma?
* Progressive systemic sclerosis
| * CREST syndrome
142
The CREST syndrome is otherwise called what?
Thibierge–Weissenbach syndrome
143
SCLERODERMA is commoner in what sex?
Females!
| Female:male ratio of 4:1
144
What is the usual age of onset seen in scleroderma?
between the 3rd and 5th decade of life.
145
The Aetiology of scleroderma is generally unknown (T/F)?
True!
146
Classify scleroderma based on the degree and location of the skin involvement ?
SYSTEMIC
* Limited cutaneous scleroderma-70%
* Diffuse cutaneous scleroderma-30%
LOCALIZED
* Localized scleroderma
* Morphea
* Systemic sclerosis sine scleroderma
* Overlap syndrome with additional features of SLE ,RA, or inflammatory muscle disorder.
147
Limited cutaneous scleroderma accounts for 30% of systemic sclerosis seen (T/F)?
False
| It's 70%
148
Skin involvement in limited systemic sclerosis is limited to what body areas?
hands
face
feet
forearms.
149
Limited systemic sclerosis often produces flexion deformities of the fingers (T/F)?
Very true!
| The skin is tight over the fingers and often produces flexion deformities of the fingers
150
characteristic 'beak'-like nose and a small mouth (microstomia) is a distinct feature of diffuse systemic sclerosis (T/F)?
False!
| It's seen in Involvement of the skin of the face in limited systemic sclerosis!
151
Skin changes in limited systemic sclerosis are usually followed by raynaud phenomenon (T/F)?
Very false!
| Limited systemic sclerosis usually starts with Raynaud's phenomenon many years (up to 15) before any skin changes.
152
Painless digital ulcers and telangiectasia with dilated nail-fold capillary loops are seen in limited systemic sclerosis (T/F)?
False!
| The digital ulcers are painful!
153
Digital ischaemia and gangrene may be seen in limited systemic sclerosis (T/F)?
Very true!
154
Gastrointestinal tract involvement is less common in limited systemic sclerosis (T/F)?
False
| It's common!
155
Pulmonary hypertension develops in what % of ptx with Limited systemic sclerosis?
in 10-15% of this group
| and pulmonary interstitial disease may occur.
156
What does CREST syndrome stand for?
```
The CREST syndrome
C-calcinosis
R-raynaud’s phenomenon
E-esophageal involvement
S-sclerodactyly
T-telangiectasia
```
157
What are the cardinal features seen in diffuse systemic sclerosis?
* Initially oedematous in onset
* skin sclerosis rapidly follows.
* Raynaud's phenomenon usually starts just before or concomitant with the oedema.
* weight loss.
158
What does morphoea mean?
Localised sclerosis of the skin
159
What age group of individuals are mostly affected by morphoea?
Can affect individuals of any age
160
What is the peak incidence of morphoea?
between 20-40years.
161
75%% of ptx with morphoea begin below the age of 10 (T/F)?
False
| It's 15%
162
What sex is more affected by morphoea?
Females!
| F : M 3:1
163
Morphoea Can be divided into several subtypes based on clinical criteria which includes?
LOCALIZED MORPHEA
* guttate
* bullous
* keloidal
GENERALIZED MORPHEA
* Morphea profunda
* Linear morphea
- -Linear scleroderma
- -morphea en coup de sabre ECDS
* Pansclerotic morphea
* Mixed forms
164
What is the cause of morphoea?
It's unknown!
165
Mention 4 factors that have been implicated in the pathogenesis of morphoea?
* Trauma
* Borrelia burgdorferi
* Phenylketonuria
* Drugs like bromocriptine, pentazocine, penicillamine
166
Where is the most favoured site of morphoea?
Trunk is the most favoured site!
167
How would lesions from morphoea appear morphologically?
Lesions appear as bluish red plaques which progress to induration and then central white atrophy.
Plaque lesions which appear immobile, shiny and hypopigmented skin surrounded by a violaceous hue (lilac) or brown border
168
Hairs are typically absent around morphoea lesions and the area ceases to sweat (T/F)?
Very true!
169
What microscopic finding are seen in the early stages of morphoea?
In early stages,
Consist of an inflammatory infiltrate of lymphocytes, histiocytes and plasma cells found primarily in the subcutaneous tissue
170
What microscopic findings are seen in the later stages of morphoea?
Later, the subcutaneous tissue is replaced by hyalinized connective tissue which is responsible for the induration of the skin
171
A ptx presents with Plaque lesions which appear immobile, shiny and hypopigmented skin surrounded by a violaceous hue (lilac) or brown border. Hairs are noticed to be absent and the area ceases to sweat. This correctly describes what?
Morphoea!
172
Outline the subtypes of morphoea?
```
Localized
Generalized
Linear
Profunda
Pansclerotic
```
173
Scarring Alopecia is a typical feature of localized morphoea (T/F)?
False
| It's generalized!
174
There is usually no visceral involvement in generalized morphoea (T/F)?
True!
175
Localised morphoea most commonly affects what body area?
Most common in TRUNKS but can also affect extremities.
176
Muscle atrophy is a known feature of localized morphoea (T/F)?
False
| It's generalized morphoea!
177
Muscle atrophy is a known feature of localized morphoea (T/F)?
False
| It's generalized morphoea!
178
lesions of localized morphoea may extend the length of arm or leg and Often begins in the first decade of life (T/F)?
False
| It's linear morphoea!
179
What usually presents as an indurated area on the forehead that may spread onto the scalp (with associated hair loss) or the face, with facial hemiatrophy in some patients.
Frontoparietal morphea(en coup de sabre):
180
What is the Parry-Romberg syndrome?
Progressive hemifacial atrophy
Epilepsy
Exophthalmos
Alopecia
181
Generalized morphoea may present as the parry-romberg syndrome (T/F)?
False
| It's linear morphoea!
182
Generalized morphoea may present as the parry-romberg syndrome (T/F)?
False
| It's linear morphoea!
183
Outline 4 clinical features associated with linear morphoea involving the Lower limbs ?
associated spina bifida
faulty limb development
hemiatrophy or flexion contractures. melorheostosis may be seen on radiography.
184
Loss of wrinkles as a result of firmness and contraction of skin and Scarring alopecia are typical features of what?
Generalized morphoea!
185
Linear morphoea may be associated with scarring Alopecia esp the "en coup de sabre" type (T/F)
False
| Alopecia is not scarring
186
What type of morphoea is associated with scarring Alopecia?
Generalized morphoea
187
Morphoea characterised by widespread involvement of indurated plaques with pigmentary change is known as?
Generalized morphoea!
188
A ptx presents with smooth, hard, somewhat depressed yellowish white or ivory lesions with margins surrounded by a lilac border or by telangiectasia which began initially as rose or violaceous macule correctly describes what lesion?
Localised morphoea!
189
Linear morphoea lesions are usually single and unilateral (T/F)?
True!
190
What form of morphoea involves deep subcutaneous tissue, including fascia?
Profunda sub-type
| And also pansclerotic sub-type
191
What form of morphoea is associated with sclerosis of the dermis, panniculus,fascia, muscle and at times the bone ?
Pansclerotic sub-type
192
A well known complication of pansclerotic morphoea is what?
Ptx has disabling limitation of joint movement.
193
What does Scleroderma sine scleroderma mean?
Refers to when Systemic features occur without skin involvement.
194
What is the most common sub-type of morphoea?
Localised morphoea
195
for linear morphoea, there is spontaneous resolution in about 1.5-4 years (T/F)?
False
| It's localized morphoea
196
Secondary changes seen in morphoea e.g pigmentary, facial deformity are usually temporary (T/F)?
False
| They are more permanent!
197
Occasionally, ulceration may develop in old lesions of morphea (T/F)?
Very true!
198
Some patients with localised morphea may survive for decades (T/F)?
False
| It's generalised morphoea!
199
Itemize 3 theories which may explain the etiology of systemic sclerosis ?
* Abnormal responsiveness of blood vessels
* Augmented synthesis of collagen by dermal fibroblasts
* Inappropriate cellular immune responsiveness
200
Itemize 3 theories which may explain the etiology of systemic sclerosis ?
* Abnormal responsiveness of blood vessels
* Augmented synthesis of collagen by dermal fibroblasts
* Inappropriate cellular immune responsiveness
201
The kidneys are involved early in systemic sclerosis, but effects are usually mild (T/F)?
Very false!!
| The kidneys are involved late, but this has a grave prognosis from MALIGNANT HYPERTENSION
202
Mention 10 features of systemic involvement in systemic sclerosis?
most have abnormalities of the Gut including
* dysphagia,
* oesophagitis,
* constipation,
* diarrhoea
* malabsorption.
* Fibrosis of the lungs leads to dyspnoea
* Fibrosis of the heart to congestive failure.
203
"The nose becomes beak-like and wrinkles radiate around the mouth" this statement correctly describes features of what?
Systemic sclerosis!
204
Outline the 3 stages of evolution of skin manifestations in scleroderma?
Edematous
Indurative
Atrophic
205
loss of normal skin wrinkles, the follicular orifices becoming unduly prominent describes what stage of scleroderma skin manifestation?
Edematous stage
206
Peau d’orange skin appearance describes what stage of scleroderma skin manifestation?
Edematous stage
207
The edematous stage of scleroderma skin manifestation may last for how long?
several weeks to month.
208
How does the skin appear in the Edematous stage of scleroderma?
The skin simply appear stretched and taut and pits on pressure (more prominent on the face and dorsi of the hands)
209
When it becomes impossible to pickup the skin between the thumb and index finger, what stage of scleroderma skin manifestation is this?
Indurative stage
210
How does the skin appear in the indurative stage of scleroderma skin manifestation?
The skin becomes hard and bound down to the underlying fascia
211
What body areas is the Indurative stage of scleroderma skin manifestation most prominent ?
on the face
dorsi of the hands
fore-arms and the fingers
212
The characteristic "pinched-mask expressionless facies" is a feature of what stage of scleroderma skin manifestation?
Atrophic stage
213
tip of the nose becomes pinched and pointed in what stage of scleroderma skin manifestation?
Attophic stage
214
progressive loss of hair follicles, thinning of the lips, puckering and narrowing of the oral aperture are characteristic features of Indurative stage of skin manifestation (T/F)?
False!
| It's the Atrophic stage
215
Mention 3 finger nail changes seen in systemic sclerosis?
```
Loss of pulp substance
Periungual telangiectasiaa
Painful digital ulcers
Scerotic skin (flecks of calcium(chalk white substance) extruding)
Claw hand deformity
```
216
The diagnosis of systemic sclerosis is usually made how? And why is this so?
* The diagnosis is made clinically
| * because histological abnormalities are seldom present until the physical signs are well established.
217
The Thibierge-Weissenbach syndrome is comprised of what?
calcinosis + scleroderma
218
Outline the diagnostic criteria for systemic sclerosis?
ONE MAJOR CRITERION
*scleromatous skin changes proximal to the metacarpal-phalangeal joints
TWO OF THREE MINOR CRITERIA:
* sclerodactyly,
* digital pitting scars
* bibasilar pulmonary fibrosis on chest radiograph.
219
Rheumatoid factor is positive in 70% of cases in systemic sclerosis (T/F)?
False!
| It's ANA!
220
What investigations would you carry out in a suspected case of systemic sclerosis?
```
FBC
E &U
Urinalysis
Imaging tech
Auto antibodies
Rheumatoid factor is positive in 30%
ANA is positive in 70%
ESR- elevated
Cryoglobulins - elevated
Hypergammaglobulinemia
```
221
Mention 4 auto-antibodies associated with systemic sclerosis ?
Anticentromere abs –LcSc
Antitopoisomerase 1 –DcSc
RF in 30%
Antinuclear Abs ANA -70%
222
What name is given to the characteristic appearance seen on upper GI endoscopy in systemic sclerosis?
"Water Melon stomach" which represents dilated submucosal capillaries in the stomach
223
What is the characteristic feature seen on x-ray of the hand in a ptx with systemic sclerosis?
calcium deposits around fingers with erosion & absorption of the tufts of the fingers, called OSTEONECROLYSIS
224
What characteristic appearance is seen on CXR in a ptx with systemic sclerosis?
Honeycomb appearance and basal fibrosis
225
What imaging modalities would you use in the MGT of a ptx with systemic sclerosis?
```
Xray of hands
CXR
Lung Fxn Tests
High resolution CT of the chest
Barium swallow
mannometry
upper GI endoscopy
```
226
What are the treatment options for systemic sclerosis?
treatment depends upon which organs are involved!
but systemic steroids are usually needed
LOCALIZED LESIONS
*topical corticosteroids or calcipotriol
The safest class of systemic agents -- ANTIMALARIALS
2nd line agents --- RETINOIDS
3rd line --SYSTEMIC IMMUNOSUPPRESSIVE AGENTS
*Thalidomide is effective but use is limited
FOR ACUTE FLARES
*oral prednisolone
```
OTHERS
penicillamine
d-penicillamine
colchicine
cyclophospamide
methotrexate
steroids – low dose daily
ace inhibitors
calcium channel blockers
ultraviolet A
interferon
```
227
management of morphoea is relatively easy (T/F)?
False
| It's difficult!
228
Systemic steroids are usually needed in the mgtbof systemic sclerosis (T/F)?
Very true!
229
What's the 1st line agent used in the mgt of systemic sclerosis?
Antimalarials
230
How is raynaud phenomenon in systemic sclerosis managed?
Control vasospasm
Dress warmly
avoid smoking
AVOID
* amphetamine
* ergotamine
* ß-blocker
VASODLATORS
* Angiotensin receptor blockers
* Nitroglycerin paste
* Sildenafil
* Ketanserin
* Fluoxetine
* IV prostagladins
* prostacyclin analogs.
231
What inflammatory myopathy is characterised by a distinctive skin rash which may accompany or preceed the onset of muscle disease?
Dermatomyositis!
232
A scaling erythematous eruption or dusky red patches over the knuckles, elbows,and knees seen in Dermatomyositis is known as?
grotton lesions.
233
What group of muscles are affected first in Dermatomyositis?
Proximal muscles!
234
Proximal myopathy in Dermatomyositis is bilaterally symmetrical (T/F)?
True!
235
What tasks become difficult for a ptx with Dermatomyositis?
Getting up from a chair
| Climbing stairs
236
The heart is commonly affected in Dermatomyositis (T/F)?
False
| Less common
237
What body parts are commonly affected in Dermatomyositis?
The joints
Esophagus
Lungs
238
What are the types of Dermatomyositis?
Adult type
| Juvenile type
239
What's the incidence of Dermatomyositis?
1:100,000
240
What sex group are more commonly affected by Dermatomyositis?
Females
| F:M (2:1)
241
Dermatomyositis usually occurs in association with systemic sclerosis and mixed connective tissue disease (T/F)?
False!
| usually occurs Alone but sometimes can be associated with systemic sclerosis and mixed connective tissue disease.
242
What age group are commonly affected by Dermatomyositis in children?
10-15yrs
243
What age group are commonly affected by Dermatomyositis in adults?
45-60yrs
244
The cause of Dermatomyositis is largely unknown (T/F)?
True
245
Dermatomyositis may be considered as an auto-immune disorder (T/F)?
True!
246
The etiology of Dermatomyositis may be of infectious origin (T/F)?
True!
| Infections caused by bacteria, parasites or viruses are known to cause inflammatory myopathies
247
but in most cases of Dermatomyositis no preceeding infection has been identified (T/F)
Very true!
248
Genetic susceptibility plays no role in Dermatomyositis (T/F)?
False
| It may play a role
249
Itemize 5 agents that have been implicated in the etiology of Dermatomyositis
```
Hydroxyurea
Penicillamine
Statin drugs
Quinidine
Phenylbutazone
```
250
Why may ptx with CML or essential thrombocytosis present with Dermatomyositis like skin changes?
Bcoz they are treated with hydroxyurea
251
After what age would Dermatomyositis signal internal malignancy?
Age 40
252
Auto-antibodies to smooth muscles have been found in Dermatomyositis (T/F)?
False
| It's striated muscles
253
Outline 3 pathognomonic clinical features of Dermatomyositis?
* A violaceous periorbital eruption (helitrope rash)
* scaly papules over the knuckles (Gottron’s papules)
* Weakness of the proximal muscles is found in most cases.
254
What are the clinical features of Dermatomyositis?
This weakness is symmetrical and causes *difficulty in getting out of chair
* difficulty in climbing stairs
* difficulty in brushing hairs
* dysphagia
* muscle pain
* fatigue
* fever
* weight loss.
255
Skin and mucous membrane involvement in Dermatomyositis have a predilection for sun exposed areas (T/F)?
Very true!
256
What is known as SCLERODERMOMYOSITIS?
A finding In some children with Dermatomyositis in Whc the skin may become thick and hard in a way similar to scleroderma.
257
Skin involvement in Dermatomyositis affects what body areas commonly?
```
the face
neck
shoulders (shawl sign)
elbows
forearms
hands.
```
258
Rash of Dermatomyositis tends to be exacerbated by sunlight (T/F)?
True!
259
What is the shawl sign?
Erythema over the shoulders and neck in dermatomyositis
260
How is diagnosis of Dermatomyositis made?
Diagnosis depends on Clinical presentation! e.g skin rash
DIAGNISTIC CRITERIA:
1) proximal muscle weakness,
2) Elevated serum creatinine kinase,
3) Myopathic changes on electromyography
4) Muscle biopsy with evidence of a lymphocytic inflammation.
*Diagnosis is Definitive with all four criteria, probable with three, and possible with two.
261
What investigations should be done in a suspected case of Dermatomyositis?
Electromyography
Blood analysis
Muscle enzymes like creatine kinase and aldolase.
Detection of autoantibodies
Muscle biopsy to show inflammatory evidence in the muscle.
Skin biopsy
MRI which may help to detect inflammation.
262
There is no cure for dermatomyositis (T/F)?
True!
263
What is the rationale for treatment in Dermatomyositis?
treatment can improve the skin, muscle strength and function.
264
What are the treatment options for Dermatomyositis?
```
High dose corticosteroids like PREDNISOLONE which is tapered as the signs and symptoms improve.
Topical corticosteroids.
Calcium and vitamin D
Immunosuppressants
*azathioprine
*methotrexate
*cyclophosphamide
*cyclosporine
```
Antimalarials -- for persistent rash.
* chloroquine
* hydroxychloroquine
Physical therapy to improve muscle strength and function.
Surgery to remove painful calcium deposit.
Pain relievers
*NSAID; paracetamol and codeine
265
Topical corticosteroid therapy in Dermatomyositis is often needed for years (T/F)?
True!
266
Mention 5 complications of Dermatomyositis?
```
Dysphagia
Weight loss
Malnutrition
Dyspnea
Calcinosis
Myocarditis
CCF and arrythmias
Cancer
```
267
Dermatomyositis in adult has been linked to increase likelihood of cancer particularly in what organs?
lungs
breasts
ovaries
