(1)
Department of Dermatology, University of Pennsylvania, Penn Presbyterian Medical Center Medical Arts Building, Philadelphia, PA, USA
Abstract
The term connective tissue disease (and sometimes collagen vascular disease) refers to the autoimmune spectra of lupus erythematosus, rheumatoid arthritis, dermatomyositis, Sjögren’s, and scleroderma. This category reviews all of these entities, but also includes other diseases that affect the connective tissues with relevance to dermatology.
A number of non-specific clinical findings may suggest the possibility of autoimmune connective tissue disease. These include: Raynaud’s phenomenon, non-scarring alopecia, livedo reticularis, pericuticular erythema, telangiectasias, palpable purpura (leukocytoclastic vasculitis) (strongest association with lupus and rheumatoid arthritis).
Keywords
LupusDermatomyositisConnective tissue diseaseCollagen vascular disease10.1 Lupus Erythematosus (LE)
Lupus is a heterogeneous autoimmune disease associated with deposition of immune complexes; the manifestations can be understood as autoantibody immune complexes depositing in the small blood vessels of the skin, brain, kidneys, joints, and other organs; it is not entirely clear why only certain organs and certain people are affected by these autoantibodies
Clinically can appear as erythematous dermal plaques, papulosquamous and rarely vesiculobullous lesions
Path (classic): interface dermatitis/vacuolar change, superficial and deep perivascular lymphs with mucin
Lupus is difficult to classify and has many clinical presentations in the skin; here cutaneous presentations of lupus are divided into acute, subacute, and chronic clinical findings along with specific lupus types.
The name “lupus” comes from the “wolf-like” or lupine facial rash
1.
Acute
Clinical findings: malar erythema “butterfly rash,” diffuse erythema, bullae
Types:
(a)
Systemic lupus erythematosus (SLE)
Per the 11 ARA criteria, ≥ 4/11 = SLE; these were designed for defining SLE for clinical studies. This may not be sensitive enough for all patients.
The 11 ARA Criteria:
4 skin findings: malar, discoid, oral ulcers, photosensitivity (photosensitivity not well defined)
2 types of antibodies:
ANA (99 % sensitive) and anti-Smith (or anti-dsDNA) (specific)
5 systems: Heme (hemolytic anemia, leukopenia, or thrombocytopenia), Renal (proteinuria or cell casts), Neuro (seizures or psychosis), Rheum (arthritis), and Cards/Pulm (pericarditis/pleuritis)
Classically the malar erythema of SLE should involve the nasal bridge and spare the nasolabial folds, which would be shaded by the nasal alae; if biopsy-proven, really is specific for SLE
Lupus band test = DIF shows DEJ IgG deposits in normal skin of SLE; an old non-specific test, not often used
Smoking may exacerbate lupus, and increase risk for lupus. Also, smoking may inhibit effectiveness of antimalarials in lupus.
(b)
Drug-induced lupus
Presents with joint pains, usually no skin findings
Resolves in days to months
Most common: hydralazine (5 %), procainamide (15–25 % of patients taking the drug!!), quinidine, TNF antagonists
Has been reported with minocycline (assoc. with + ANA)
Anti-histone Ab in 95 %- this is positive in 50 % of SLE
(c)
Bullous SLE
Subepidermal blistering manifestation of SLE (not a part of any other form); may overlap with epidermolysis bullosa acquisita
If biopsy-proven, really is specific for SLE
See also Vesiculobullous:Subepidermal blisters:Neutrophilic
2.
Subacute
Clinical findings: annular (and polycyclic), papulosquamous
Types:
(a)
Subacute cutaneous lupus (SCLE)
Strong anti-Ro association, tends to be ANA positive
About half may meet criteria for SLE
Can develop Sjögren’s; 10–15 % may develop internal disease (nephritis)
Drug-induced by HCTZ (#1), terbinafine (most reported), Ca channel blockers, NSAIDs, griseofulvin, PPIs
(b)
Neonatal lupus erythematosus
Rash typically periorbital
Risk of third degree heart block (15–30 %) and thrombocytopenia (5–10 %)
Check for Ro (most common in 95 %), La, anti-U1-RNP
Mother usually asymptomatic, usually Ro positive
25 % risk of next child developing
Ro binds to fetal cardiac myocytes (injures conducting system)
Anti-U1-RNP associated with lower risk of heart block
3.
Chronic
Types: discoid, panniculitis, hypertrophic/lichenoid
Note: Chronic LE is typically associated with scarring
(a)
Discoid lupus (DLE)
Only 5 % progress to SLE, but ~20 % of patients with SLE have DLE
Early lesions can appear psoriasiform
For biopsy, select old lesion for more characteristic path
“Carpet tack sign” = horny plugs on undersurface when scale removed (non-specific)
See also Alopecia:Scarring alopecia
(b)
Lupus profundus (panniculitis)
See also Dermal:Panniculitis:Mostly lobular panniculitis without vasculitis
4.
Other
(a)
Lupus erythematosus tumidus (tumid lupus)
Non-scarring
Considered acute, subacute, or chronic by various
May overlap with Jessner’s
On face/trunk, annular plaques (?urticarial plaques) with no secondary changes (e.g. no scale)
Could be independent entity, but often seen in lupus pts
On path, lymphocytic, absence of DEJ/interface involvement, but has mucin deposition
(b)
Lichen planus-lupus overlap syndrome
Controversial, lesions with overlapping features of LP and LE; may not have positive ANA
(c)
Rowell syndrome
Overlap of erythema multiforme and lupus; may just represent LE patients developing EM
(d)
SLE pernio (Chilblain lupus)
Red/dusky purple plaques on fingers/toes brought on by or exacerbated by cold in the context of SLE (unlike perniosis)
10.2 Dermatomyositis
Clinical signs:
Most classic:
Heliotrope rash (periocular violaceous erythema)
Gottron’s papules = papulosquamous pink to violaceous papules over MCPs, DIPs, PIPs, sparing between joints
Other common signs:
Gottron’s sign = pink/red/purple atrophic or scaly papules/plaques over extensor knuckles, knees, elbows (can mimic psoriasis)
Shawl sign = erythema and scale ± poikiloderma over shoulders
Periungual telangiectasias and cuticular changes (Samitz sign)
Central face erythema
“Mechanic’s hands” = can be associated with anti-synthetase (Jo-1)
Proximal muscle weakness (e.g. cannot lift arms)
Holster sign – erythematous/violaceous rash on the lateral hips/thighs
Rare manifestation: flagellate erythema (ddx bleomycin toxicity, Shittake-mushroom dermatitis)
Like other connective tissue diseases, skin involvement may be photodistributed or photoaccentuated
Amyopathic dermatomyositis (dermatomyositis sine myositis) = cases without clinical muscle involvement or muscle enzyme changes) which may represent up to 20–30 %; these cases are still at risk for interstitial lung disease and malignancy association
Ddx periocular rash: heliotrope rash, contact dermatitis, trichinosis
Papulosquamous extensor surface eruption may resemble psoriasis
Check for elevated CK and aldolase (muscle enzymes)
Drug-induced dermatomyositis is rare, but notably hydroxyurea can cause a poikiloderma of the dorsal hands that is similar; also, statins
Important: r/o underlying malignancy (especially likely if age >50)
Traditional antibody associations:
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