Unveiling the Enigma: A Challenging Diagnostic Journey to Oculocutaneous Sarcoidosis
Introduction Sarcoidosis is a complex, multisystem disorder characterized by the formation of non-caseating granulomas in various organs, most commonly the lungs and lymph nodes. Ocular involvement is frequent, occurring in up to 78% of patients, while skin manifestations are seen in approximately 2...
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| Main Authors: | , |
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| Format: | Article |
| Language: | English |
| Published: |
World Scientific Publishing
2024-01-01
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| Series: | Journal of Clinical Rheumatology and Immunology |
| Online Access: | https://www.worldscientific.com/doi/10.1142/S2661341724740675 |
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| Summary: | Introduction Sarcoidosis is a complex, multisystem disorder characterized by the formation of non-caseating granulomas in various organs, most commonly the lungs and lymph nodes. Ocular involvement is frequent, occurring in up to 78% of patients, while skin manifestations are seen in approximately 25–35% of patients. Here we present a case of a 13-year-old boy with generalized body pain that later evolved to oculocutaneous sarcoidosis. Case Report A 13-year-old Sri Lankan boy presented in 2021 with severe generalized body pain, bilateral cervical lymph node swelling, occasional fever, and elevated inflammatory markers. Initial investigations for infections, malignancies, and autoimmune diseases were inconclusive. Lymph node biopsy suggested toxoplasmosis, but serological tests were normal. He later developed left eye visual blurring and periorbital swelling, with MRI showing left optic neuritis and orbital soft tissue oedema. Treatment with IV Methylprednisolone and oral prednisolone resolved his symptoms but was lost to follow-up. A year later, he presented with transient self-resolving subcutaneous nodules over trunk and limbs. due to its transient nature. ANA, RF, ACE level, serum Calcium, serum protein electrophoresis and IgG4 levels were negative. He was started on steroids, Methotrexate, and Infliximab assuming the possibility of autoinflammatory syndrome or sarcoidosis. In 2024 he again developed bilateral submandibular and cervical lymphadenopathy with acute right side visual blurring. MRI showed right optic neuritis and lacrimal gland swelling. (Figure 1) Lymph node Biopsy confirmed non-caseating granulomas. (Figure 2). Based on the findings, a diagnosis of oculocutaneous sarcoidosis was made. Treatment with steroids, methotrexate and Adalimumab was initiated, resulting in a remarkable response. Conclusion Sarcoidosis should be considered as a differential diagnosis in cases of optic neuritis with lymphadenopathy and cutaneous manifestations. Diagnosis of oculocutaneous sarcoidosis is challenging and often requires a multidisciplinary approach involving dermatologists, ophthalmologists, and rheumatologists. |
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| ISSN: | 2661-3417 2661-3425 |