Connective tissue diseases

Objectives
• 1- Describe the clinical features and
investigations of discoid lupus, subacute
lupus , Systemic lupus erythematosus,
systemic sclerosis, morphea and
dermatomyositis
• 2- list the lines of treatment of the above
diseases.
• The cardinal feature of these conditions is
inflammation in the connective tissue which
leads to dermal atrophy or sclerosis.

• ranging from benign cutaneous to severe

multisystem diseases.
 Lupus erythematosus

• Skin skin and some int. problems multisystem dis.

(Discoid) (subacute cut. Lupus) (systemic lupus)
 SLE
Aetioology and pathogenesis: Multifactorial

●Disturbance of the immune regulation

uncontrolled production of autoantibodies and

immune complexes

●Genetic: monozygotic twins, family history of CT,

compliment deficiency.
●Environmental factors: sunlight, drugs, estrogens and
pregnancy
Clinical features
Criteria for the diagnosis: at least 4

1- butterfly rash
2- photosensitive rash
3- discoid lesions
4- oral ulcers
5- arthritis
6- serositis
7-nephropathy
8- CNS
9- Hematologic: hemolytic an. or leukopenia or
lymphopenia
10- Immunologic: anti DNA or false + VDRL
11- + ANA
• Young to middle age women. F/M: 9/1
Skin involvement : + in 80%
• Butterfly rash: superficial or indurated plaques
lasting for days to months. Non scarring.
• Discoid lesions
• Erythema and puffiness of finger tips
• Alopecia: diffuse non scarring
• Leg ulcers due to vasculitis or thrombosis.
• Petechi and livedo reticularis
• Raynaud's phenomenon.
Investigations
• CBC: normochromic normocytic anemia,
leucopenia, thrombocytopenia.
• ESR, CRP
• Serological test:
*ANA: + in 95% sensitive but not specific
* Anti DNA: + in 60 %. specific but not sensitive.
* Anti sm: + 15%, highly specific
* Serum compliment: low level indicates active
dis.
Treatment
• Antimalarials
• Steroids
• Immunosuppresive therapy.
 Discoid lupus erythematosus
• Discoid erythematous plaques with adherent
scales with follicular plugging and
telangiectasia affecting the face, ears, scalp,
rarely below the neck.
• Photosensitivity.
• On the scalp causes scarring alopecia
• ANA + in up to 35%
• Female / male : 2/1
Diff. diagnosis

• Psoriasis and seborrheic derm.: non scarring

• Polymorphous light eruption: seasonal variation
• Tinea faciei: active boarder

Treatment
• Steroids: topical / intralesional
• Sunscreens
• Antimalarials
 Subacute cut. lupus
• Psoriasiform plaques affecting the face, hands
, arms and chest.
• Photosensitivity.
• Usually middle age women.
• No scarring.
• 75% of patients have arthralgia or arthritis.
• ANA + in 60%.
• Anti Ro + in 60%
• Treatment: steroids, antimalarials,
immunosupp.
 Systemic sclerosis and morphea
• Disorders characterised by degeneration and
fibrosis in the skin and many internal organs.
*Systemic sclerosis diffuse scleroderma
CREST syndrome
*Morphea (local or wide spread)
 Morphea

• Pale or hyperpigmented indurated macules

,patches or plaques affecting the skin and / or
the subcut. Often depressed
• Rare systemic features.
• Children and adults
• Any body area
• Treatment: spontaneous recovery may occur,
topical steroids
 Scleroderma
• Raynaud’s phenomenon is usually the presenting
complaint.
• Female/male: 3/1
• Initially non pitting edema and sausage like
swelling of fingers.
• Later the skin become shiny with atrophy and
ulceration of the finger tips.
• The face become taut and mask like with beaking
of the nose.
• Telangiectasia
• Dilated, irregular, nail fold capillary loops
• Widespread calicifications of the skin can be
seen by x- ray.
• Hyperpigmentation or depigmentation.
Investigations
• ANA + in 90 %
• Anti Scl-70 + in 20 %
• Anticentromer + in 50-90% in CREST syndrome.

Treatment
Steroids
Penicillamine interfere with collagen cross linking.
nifedipine
 Dermatomyositis
• Starts with erythema and swelling of the face
and eyelids which become violet (heliotrope).
• Photosensitivity.
months years
• Edema and erythema of the neck, shoulder
and arms
• Nail fold telagiectasia
• Gottron's papules: flat violaceous papules
over the knuckles.
• Calcification occurs on the shoulder, elbows
and hands.

• Muscle changes: mostly involving the shoulder

girdle and sometimes the pelvic region.

• Usually skin eruption precedes muscle

weakness by 3 months.
Diagnostic criteria
1- Symmetrical weakness of limb girdle muscles
and ant. Flexors of the neck.
2- muscle enzymes: CPK, TA, LDH, and
aldolase.
3- abnormal EMG
4- myositis on muscle biopsy.
5- dermatologic features
3 diagnosis
 Dermatomyositis and malignancy
• 5th and 6th decades
• More in women
• Ovarian cancer
Investigations
• CBC: anemia, WBC
• ESR
• Muscle enzymes: correlate with dis. Activity.
• Antisynthetase Ab. Ex. Anti jo-1.
• ANA
• X ray.
• EMG.
• Skin or muscle biopsy.
Treatment
• Systemic steroids.
• Immunosuppressive therapy
• Sunscreens
• Topical steroids
A B
DLE
DLE
Subacute cutaneous lupus
Scleroderma
Scleroderma
Periungual telangiectasia
Morphea
Morphea
Morphea
Dermatomyositis
Dermatomyositis
Dermatomyositis
 Summary
• DLE: scarring lesions affecting the face,
butterfly, ears.
• Subacute cut. Lupus: psoriasiform lesions and
photosensitivity.
• SLE: young female, butterfly rash,
multisystemic.
• Morphea: hypo or hperpigmented sclerotic
patches
• Scleroderma: Raynaud’s phenomenon,
telagiectasia, mask like face.
• Dermatomyositis: photosensitivity, heliotrope
rash, muscle weakness.