Anti-synthetase Syndrome: A Diagnostic Dilemma.

Among the various inflammatory myopathies, the anti-synthetase syndrome (ASS) is a rare entity with autoantibodies directed against aminoacyl-transfer ribonucleic acid synthetase. Its clinical spectrum ranges from myopathy and non-erosive arthritis to dyspnea and cough of pulmonary interstitial disease and from hyperkeratotic skin changes to spasms of blood vessels causing Raynaud's phenomenon. We present a case of a 21-year-old female who had been suffering from fever, night sweats, and weight loss for two years and had remained undiagnosed. She came to our hospital with new-onset muscle weakness, small joint arthralgia, and skin changes. Physical examination showed inflammation involving multiple small joints and characteristic hyperkeratotic skin changes in the distal and lateral phalanges of the hands and feet. Raised creatine phosphokinase levels indicated the possibility of myositis along with positive anti-nuclear antibodies, suggesting an autoimmune rheumatic disorder. Inflammatory myositis was later confirmed on biopsy. Further investigations revealed positive anti-Jo1 antibodies. The diagnosis of ASS was made despite the absence of pulmonary signs and symptoms. The patient was promptly started on prednisone and azathioprine. She showed some improvement in muscle weakness at the end of two months and continues to improve albeit slowly. Due to the lack of awareness about the rare disease among the non-rheumatologists, there was a significant delay in the patient's diagnosis. It is, therefore, important for primary care physicians to obtain a comprehensive history and perform a detailed clinical examination to make timely referrals to specialized healthcare professionals.

Gestational Pemphigoid Presenting in the Second Trimester of Pregnancy: A Rare Finding.

Gestational pemphigoid (GP) is a rare autoimmune blistering disorder, occurring in 1 in 60,000 pregnancies. It occurs in the second or third trimester of pregnancy and is characterized by autoantibodies against hemidesmosomal proteins. A variety of dermatological conditions are associated with pregnancy; among these skin diseases, gestational pemphigoid is very rare. The purpose of this report is to highlight the specific findings of this rare disease to enable clinicians to take prompt intervention in treating this condition. A 23-year-old multigravida, with no known comorbidities, presented to us at 18 weeks of gestation with complaints of intensely pruritic tense blisters all over the body, sparing the scalp, palms, and soles. The diagnosis was confirmed by skin biopsy for histopathology, after which the patient was started on prednisolone, which was then gradually tapered to an appropriate maintenance dose and then discontinued as the patient did not report any new lesions after delivery. Gestational pemphigoid can recur in subsequent pregnancies with more severe lesions. However, this was the first time the patient presented with this condition in her third pregnancy. Proper management of this disease requires close monitoring and appropriate drug therapy to reduce maternal and neonatal morbidity.