Case Report: A Deadly Siren and an uncommon connective tissue disorder

Jithesh.k*, Shajith.S.*, Abhilash*, Hariprasad*, Shan** ,Geetha.P.** ,Benoy.J.Paul***.
Department of Internal medicine, Calicut Medical College.
(Published in CALFIM Journal)

Introduction
Of all the inflammatory myopathies the chance association with malignant lesions especially in the older age group is highest with dermatomyositis. However the extent of search that should be conducted for an occult neoplasm in adults depends on the clinical circumstances uncovered by the medical history and physical examination and not through an extensive blind search.
Case report
Mr........., a 48 year old previously healthy individual working in gulf countries with history of intermittent episodes of Bronchial asthma and Atopic features, presented in our outpatient department complaining of polyarthralgia involving predominantly the small joints of upper limbs and lower limbs symmetrically and generalized muscle pains for 1month and proximal muscle weakness of UL/LL and erythematous lesion of face of 3weeks duration .His physical examination showed no pallor, jaundice, cyanosis ,clubbing , edema or lymphadenopathy and pulse rate was 80/min,B.P.of 140/80 mm of Hg. His abdomen was soft with no hepatosplenomegaly or masses. Examination of chest and cardiovascular system was normal. Nervous system examination showed grade (4-) power of proximal muscles of upper and lower limbs, deep tendon reflexes were normal, with no sensory deficits, no cerebellar signs, Fundus -- normal with no overt features of peripheral neuropathy. . Locomotor system examination showed only arthralgia in the small, appendicular joints symmetrically predominantly of the upper limbs. Face showed an erythematous and edematous elevated lesions over the malar eminence on both sides involving the nasolabial folds and periocular and periorbital region, extending to the pinna on both sides.

In view of the presence of proximal weakness of the upper and lower limbs and the presence of a periorbital facial rash, the possibility of dermatomyositis was considered and we proceeded with investigations. Also a reasonable screening for occult malignancies was done to rule out secondary dermatopolimyositis.

Investigations
•Hb – 13.6 gm/dl
•TC – 7800 cells/mm3
•DC – P48 L 51 E1
•ESR – 39 mm/ I hr
•B.U. – 19 mg/dl
•S. Cr. – 0.41 mg/dl
•Na+ -- 140 meq/l
•K+ -- 4.3 meq/l
•CXR (PA) – WNL
•USG (abd) – Normal
•CPK – 7500 IU/L
•RA factor – Negative.
· Anti- ds DNA – Negative
· ANA – Negative.
Complete ANA profiling
•SS-A / Ro 52 – Positive.
•SS-B / La – Negative.
•Anti Jo -1 – Negative.
•Scl-70 – Negative.
•nRNP / Sm – Negative.
•Sm – Negative.
•CENP – Negative.
•AMA M2 – Negative
TFT
•T3 – 1.03 (0.86-2.02)
•T4 – 8.53 (5.13-14.16)
•TSH – 1.31 (0.27-4.2)
•Skin biopsy was done from the skin lesions
Showing epidermal atrophy. Epidermis shows occasional vacuolated basal cells with few scattered lymphocytes in the underlying dermis and mucinous change with an increase in the faint bluish matrix of dermis.

EMG was done to confirm with myopathic pattern of weakness, which showed spontaneous activity in the form of fibrillations and prolonged insertional activity with myopathic motor unit potentials suggestive of inflammatory myopathy.
Modified Bohan and Peter criteria were used to confirm a diagnosis of Dermatomyositis based on above clinical features and investigation reports.
Modified Bohan and Peter Criteria
.
1. Symmetrical proximal muscle weakness. (+)
2. Elevated muscle enzymes, (+)
3. Characteristic inflammatory myopathic EMG finding. (+)
4. Muscle biopsy showing evidence of inflammatory myositis.
5. Typical rash of Dermatomyositis (+)
(Three of the first Four + 5th criteria is needed for definitive diagnosis)

A reasonable screening for occult malignancies in the lung, GI system, testes and lymphoreticular system was done which was all-negative.
Patient was started on oral prednisolone at 40mg OD dose. Patient showed dramatic improvement in weakness and a decrease in CPK levels (4839 IU/l)
and skin lesion significantly decreased. Patient was kept under regular follow up to rule out any occult malignancy that may resurface in the future.

Photographs after treatment with steroids.

Discussion

Causes for Dermatomyositis
Primary

· Genetic predisposition (HLA DR3, HLA DQA1*0501).
Secondary
·
· Underlying malignancies (ovarian, breat, melanoma, colon, NHL).
·
· Autoimmune disorders (associated with MCTD or SS, rarely SLE Rhuematoid arthritis and Sjogrens syndrome).
·
· Infectious or toxic agents

· Drug-induced (implicated drugs include hydroxyurea, penicillamine, statins, quinidine, and phenylbutazone).

Treatment and follow-up of Dermatomyositis.


•Prednisone,
•Methotrexate,
• Azathioprine,
•Cyclophosphamide,
•Cyclosporin,
•Mycophenolate and
•High dose intravenous immunoglobulin.
•Diltiazem, a calcium channel blocker, may reduce calcinosis.

•Colchicine has also been reported to reduce calcinosis.

•Hydroxychloroquine may reduce the photosensitive rash.
•Avoid excessive sun exposure and use sun protection measures,

•Bed rest for those with severe inflammation of muscles,

•Physical therapy and activity to keep the muscles and joints moving.
•Raising the bed head for those with difficulty swallowing

•Most patients will require treatment throughout their lifetime,

•Completely resolves in about 20%.
· Treated DM has 5 year survival of ~95%.
•Specific Anti-Mi-1 is found in one quarter and
•Anti-Jo-1 in a few, usually those who have lung disease (80%).


•Patients who have disease affecting their heart (AV conduction abnormalities, DCM) or lungs (ILD), or who also have an underlying cancer do less well and may ultimately die from their disease.

References.

1. CALLEN JP: Dermatomyositis. Lancet 355:53, 2000

2. DALAKAS MC: Polymyositis, dermatomyositis, and inclusion-body myositis. N Engl J Med 325:1487, 1991

3. ARGOV Z et al: Various types of hereditary inclusion body myopathies map to chromosome 9p1-q1. Ann Neurol 41:548, 1997

4. ENGEL AG et al: The polymyositis and dermatomyositis syndromes, in Myology, AG Engel, C Franzini-Armstrong (eds). New York, McGraw-Hill, 1994, pp 1335-1383

5. IOANNOU Y et al: Myositis overlap syndromes. Curr Opin Rheumatol 11:468, 1999