encompasses systemic disorders with frequent cutaneous involvement, with many named based on dermatological findings. [1]

These group of diseases include systemic lupus erythematosus, discoid lupus erythematosus, dermatomyositis, systemic sclerosis, sjogrens syndrome, and mixed connective tissue disease. Although Connective tissue diseases are multisystem disorders, the skin is often the presenting sign. [2] Interestingly, the clinical spectrum of presentation for Cutaneous lupus erythematosus, Dermatomyositis, and Systemic sclerosis can vary from skin only to internal organ only. [3]

This offers the clinician a diagnostic challenge and it is thus critical that dermatologists maintain a heightened awareness of non-skin manifestations when working up patients for Connective tissue diseases. [4] Furthermore, the wide array of clinical signs within each disease makes absolute classification of Connective tissue diseases exceedingly difficult, especially in cases of overlap. [5] Hence the dermatologist plays a key role in diagnosis and management of these diseases in collaboration with other specialist like rheumatologist, nephrologist, cardiologist etc. [6]

Nonspecific symptoms of these diseases like rash, fever, weakness, arthralgia, dry eyes, dry mouth, oral ulcerations, seizures, dementia, unexplained hair loss have made serodiagnosis an indispensable tool. [7]

Presence of these antibodies not only confirms the diagnosis but also conveys information regarding the prognosis, progress of disease, involvement of other organ systems. [8]

Therefore, the present study is undertaken to understand the various dermatological manifestations of connective tissue disorders and to correlate the association of various Antinuclear antibodies in the subsets of Connective tissue diseases. [9]

This is a prospective study was conducted in the Department of Dermatology, Venereology and Leprosy at Tertiary Care Teaching Hospital from April 2023 to March 2024.  All patients with clinical features suggestive of DLE, SLE, dermatomyositis, systemic sclerosis, Mixed connective tissue disease have been included in the study. Patient of any age and sex diagnosed clinically with any subset of CTD were included.

METHOD OF DATA COLLECTION

• Data was collected over a period of 1 years with a minimum sample size of 50
• In every case, a detailed history and thorough systemic and cutaneous examination was carried
• Routine investigations will be done for every patient: CBP, CUE, ESR, RBS, RFT, LFT, Chest X ray, ECG, HIV, HbsAg, spot urine protein by creatinine
• A skin biopsy was done done if
• ANA profile was done for every patient included in the

INCLUSION CRITERIA

• Patient of any age and sex diagnosed clinically with any subset of CTD mentioned

EXCLUSION CRITERIA

• Patients not willing to undergo the
• Patients with known malignancy on or off treatment.
• Patients on treatment or systemic

50 patients were included in the study. Among them, 39 (78%) were females and 11 were males. Female to male ratio was highest in SLE. Systemic sclerosis was the most common CTD in the present study.

Figure 1: Sex distribution of cases of CTD included in the study

Systemic sclerosis (30%) was the most common connective tissue disease included in the study followed by discoid LE (28%) and SLE (26%).

Figure 2: Disease wise distribution of each autoimmune CTD included in the study

ANA was positive in 62% of patients included in the study. Anti Ro 52 was positive in 20% patients, anti ds DNA in 16% patients.

Figure 3: Figure depicting number of patients with each antibody among the patients included in the study

The female to male ratio was highest in cases of SLE (12) followed by systemic sclerosis (6.5).

Figure 4: Gender wise distribution of the various autoimmune CTDs

Majority of patients(46%) belonged to age group 31 -40 years followed by 21-30 years(24%). Mean age of patients included in the study was 33.68 years.

Figure 5: Age distribution of patients of CTD included in the study.

Among cases of SLE presenting to the DVL OP, malar rash (92.3%) was the predominant presenting feature. Oral ulcers were seen in 69.23% patients. Joint pain and Subacute rash was seen in 61.5% patients each. ANA by immunofluorescence was positive in 92.3% patients of SLE. Among SLE patients anti ds DNA was the most prevalent ANA subset, positive in 61.53% patients. Anti Ro ab were the 2^nd most common ANA subset among SLE patients positive in 38.4% patients. All patients with anti ds DNA ab had renal involvement of various grades. Phonocentricity was seen in 23.07 % pts of SLE. Anti Ro Ab was positive in all 3 of these patients. 60 % (3/5) of patients with anti Ro Ab had photosensitivity.

Figure 6: Figure depicting prevalence clinical features and autoantibodies in percentage among patients of SLE.

Among patients of Systemic sclerosis, 13 were male and 2 were females. Female to male ratio was 6.5. Sclerodactyly was the predominant clinical feature seen in 100 % of patients. 80% patients of SSc complained of dysphagia.among the patients with dysphagia, 66.6% belonged to diffuce cutaneous SSc and 33.3% to limited cutaneous SSc.

73.3 %(11/15) patients were classified into limited cutaneous SSc and 26.6% (4/15) into diffuse cutaneous SSc based on the clinical features described above.

40% (6/15) of patients of SSc complained of dyspnoea, among whom 83.3% (5/6) had restrictive pattern on pulmonary function test.Overall 33.3% of patients of SSc had restrive pattern on PFT. Among the patients with dyspnoea, 66.6% (4/6) had positive Anti Scl 70 Ab (anti topoisomerase Ab). 53.3% patients had arthralgia in joints of hands, elbows, knees.

ANA was positive in 86.6% (13/15). Anti Scl 70 (ATA) was positive in 20% (3/15) , Anti centromere Ab (ACA) in 33.3% (5/15) and anti Ro 52 in 13.3% (2/15) patients of SSc .

Figure 7: Figure showing clinical features and antibody profile in patients of Systemic Sclerosis

Among 14 patients of Discoid lupus erythematosus(DLE) included in the study, there were 9 females and 5 males. Female to male ratio was 1.8 . 78% (11/14) patients had scarring hair loss and 71.42% patients complained of photosensitivity. ANA was positive in 14.28% (2/14) patients and Anti ds DNA in 7.1%(1/14)

Figure 8: Clinical features and antibody profile in patients of DLE.

All 5 cases of subacute cutaneous LE, were female. All patients complained of photosensitivity. ANA was positive in 40%(25) anti anti Ro Ab in 60%(3/5).

Figure 9: Clinical features and ANA profile in patients of SCLE

Dermatomyositis (DM) is an autoimmune disorder affecting, predominantly, the skin and skeletal muscle characterized by erythematous and oedematous changes in and usually associated with muscle weakness and inflammation.

Infections, genetic factors, immunological abnormalities and malignancies have been implicated in the etiology of dermatomyositis. Dermatomyositis precedes the neoplasm in 40%, both occur concurrently in 26% or neoplasm precedes DM in 34% patients.(10) Using strict criteria, 26% of adult DM patients were found to have a malignancy.(11).

In adult cases, onset is predominantly between the ages of 40 and 60 yrs. In children the mean age of onset is 6.8 years. In adults and children, females are more frequently involved than males.

In the present study, there was only one case of dermatomyositis who was a 40 year old male. The patient came with complaint of erythematous to violaceous rash on face and upper limbs on further examination the patient had difficulty in lifting his arms above shoulders. The patient had elevated Creatine kinase MB (CKMB) and anti jo-1 antibodies were positive.

DM has traditionally been viewed as a humorally mediated vasculopathic disease given the findings of autoantibodies and complement deposition in vessels. The proposed mechanism has been that binding of antibodies targeting the endothelium of the endomysial capillaries leads to activation of the complement system with subsequent MAC deposition. This in turn may lead to endothelial swelling, capillary necrosis, perivascular inflammation, and muscle ischemia.

Classic skin manifestations of DM include the heliotrope rash, Gottron's papules, Gottron's sign, the V-sign, and shawl sign. Additional cutaneous lesions frequently observed in DM patients include periungual telangiectasias, cuticular overgrowth, “mechanic's hands”, palmar papules overlying joint creases, poikiloderma, and calcinosis. Clinically amyopathic DM is a term used to describe patients who have classic cutaneous manifestations for more than 6 months, but no muscle weakness or elevation in muscle enzymes. Interstitial lung disease can affect 35–40% of patients with inflammatory myopathies and is often associated with the presence of an antisynthetase antibody

Mixed connective tissue disease (MCTD) was first described in 1972 as a disease syndrome with overlapping features of systemic sclerosis, systemic lupus erythematosus (SLE) and polymyositis associated with antibodies to extractable nuclear antigen. When the antigen was subsequently characterized as polypeptides on the U1 ribonuclear protein component of the splicesosome (U1RNP), MCTD became the first rheumatic disease syndrome to be defined by a serologic test. Clinical features include a high frequency of Raynaud‟s syndrome, swollen hands, sclerodactyly, arthritis, polymyositis and interstitial lung disease. Mixed connective tissue disease, drug induced lupus, and autoimmune hepatitis are the three connective tissue diseases in which ANA is mandatory for diagnosis.

In the present study, 2 patients were diagnosed with MCTD, one female and one male. Both the patients had positive anti U1 RNP antibodies. MCTD is far more common in females than in males. Estimates of the female-to-male ratio vary from approximately 3:1 to 16:1. (12-19) The onset of MCTD is typically at 15-25 years of age, but can occur at any age. In the present study patients were 40 and 42 years old. Most patients with MCTD have a favorable outcome. Cases of MCTD with typical clinical or serologic features occasionally evolve into scleroderma, SLE, or another rheumatic disease.

In the present study, most common autoimmune connective tissue disease was systemic sclerosis (30%) followed by discoid lupus erythematosus (28%). Systemic lupus erythematosus was the third most common autoimmune connective tissue disease among patients presenting to the DVL OP. Evidently, Females were more commonly affected. 78% of the patients were females. Female to male ratio was highest in SLE(12). Majority of patients belonged to age group of 31 to 40 years (46%). Mean age of patients included in the study was 33.68 years. Anti nuclear antibody (ANA) by immunoflourescence was positive in 62% of patients included in the study. Among the 4 ANA negative SLE patients, 3 were positive for anti Ro antibody. Among SLE patients, anti ds DNA was the most common auto antibody noted (61.53%). Anti Ro ab were the 2nd most common ANA subset among SLE patients positive in 38.4% patients. All patients with anti ds DNA ab had renal involvement of various grades. Among patients of systemic sclerosis (SSc), sclerodactyly was the most common complaint seen in 100% patients of SSc followed by hypermelanosis (86%). Majority of patients of systemic sclerosis had pale and cold fingers even when they did not complain of the triphasic colour change.

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