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Sarcoidosis - External and Internal Eye
See also in: Overview,Hair and Scalp,Oral Mucosal Lesion
Other Resources UpToDate PubMed

Sarcoidosis - External and Internal Eye

See also in: Overview,Hair and Scalp,Oral Mucosal Lesion
Contributors: Belinda Tan MD, PhD, Brandon D. Ayres MD, Christopher Rapuano MD, Harvey A. Brown MD, Sunir J. Garg MD, Lauren Patty Daskivich MD, MSHS
Other Resources UpToDate PubMed

Synopsis

Sarcoidosis is an immune-mediated systemic disorder typified by granuloma formation in involved organs, most commonly of the lung parenchyma and the skin. The inciting immune activating agent remains unknown (hypotheses include autoimmune, infectious, and environmental triggers). There are genetic predispositions related to components of the inflammatory response. Family history of the disease increases the risk. The disease affects all ages and races and ethnicities, with peak incidence at age 30-50 in men and 50-60 in women. It is slightly more common in women. Cutaneous disease is often the first sign of systemic sarcoidosis.

Sarcoidosis commonly presents with abnormalities identified incidentally on chest radiography. Although the disease can affect different organs, systemic symptoms such as fever, night sweats, and weight loss are common. Sarcoidosis can affect the lungs, with symptoms such as chest pain, shortness of breath, cough, and most commonly, pronounced fatigue. It can also affect the peripheral lymph nodes, heart, kidneys, gastrointestinal tract, central nervous system (CNS), liver, spleen, bone, muscle, and endocrine glands. Venous thromboembolism and pulmonary hypertension are potential complications of sarcoidosis. Approximately 90% of patients will have lung involvement. Pulmonary fibrosis and bronchiolectasis result in "honeycombing" of the lung and represent end-stage lung disease due to chronic granulomatous inflammation. Hilar lymphadenopathy is asymptomatic and affects 90% of patients. Approximately 10% of patients have hypercalcemia.

Neurosarcoidosis commonly manifests as cranial-nerve deficits. Any part of the neurologic system can be impacted by sarcoidosis; a vast range of neurologic signs and symptoms may be present. Delays in diagnosis and treatment can lead to permanent disability. The diagnostic workup for neurosarcoidosis should include an MRI of the head, cerebrospinal fluid analysis, and detection of sarcoidosis outside the nervous system.

About a quarter to one-half of patients with systemic disease develop eye involvement. Patients with ocular sarcoid may complain of double, decreased, or blurry vision. There are 2 ocular syndromes: Heerfordt syndrome, with uveitis, parotid enlargement, and papilledema; and Löfgren syndrome, with erythema nodosum, bilateral hilar adenopathy, and arthralgias.

Uveitis of the eye can present with photophobia, redness of the eye, and cloudy vision. Complications from uveitis include cataracts, glaucoma, posterior synechiae, corneal band keratopathy, and iris nodules. Retinal neovascularization and optic nerve damage are also possible with sarcoidosis. Granulomas of the eyelids, lacrimal glands, conjunctiva, iris, retina, and choroid can occur. Rarely, there can be granulomatous inflammation of the extraocular muscles leading to diplopia, which may be the presenting sign of sarcoidosis.

Mortality is most commonly due to significant granulomatous disease in the lungs and heart, leading to respiratory failure, cardiac arrhythmias, and heart failure. CNS, liver, and renal diseases are also well-known causes of morbidity and mortality.

The pathogenesis of sarcoidosis is poorly understood. However, it is characterized by noncaseating epithelioid granulomas made up mostly of CD4+ helper T-cells, a predominantly Th1 type immune response, and elevated levels of interferon (IFN)-gamma and interleukin (IL)-2.

Some drugs and exposures have been associated with the development of sarcoidosis and sarcoid-like granulomatosis. Patients undergoing antiviral therapy for chronic hepatitis C – both monotherapy with IFN-alpha and combination therapy with IFN-alpha and ribavirin – have developed new-onset sarcoidosis or experienced reactivation of preexisting sarcoidosis during or shortly after treatment. The disease typically manifests as pulmonary and/or cutaneous sarcoidosis and follows a benign course, resolving spontaneously or within months after antiviral treatment is completed. More complicated multisystem cases, eg, involving the CNS, have been reported. The use of systemic corticosteroids to treat sarcoidosis in such patients should be considered with caution due to their adverse effects on viral loads. In addition, there have been an increasing number of reports of new-onset sarcoidosis manifesting in patients who are receiving anti-tumor necrosis factor (TNF)-alpha therapy (etanercept, infliximab, adalimumab), eg, for a rheumatologic diagnosis. This is paradoxical because TNF-alpha inhibitors have been used to treat sarcoidosis. Disease typically resolves with discontinuation of the drug and steroid therapy. It has been reported that exposure to moderate-to-high levels of silica increases the risk for sarcoidosis, which is of special concern for first responders (eg, firefighters). This association is more common in men due to occupational exposure.

Pediatric Patient Considerations:
Sarcoidosis is an uncommon disease in pediatric patients and is extremely rare in children younger than 6 years. When sarcoidosis presents in children younger than 6 years, it is characterized by a triad of skin rash, uveitis, and arthritis without intrathoracic involvement. In adolescents, the cutaneous manifestations of sarcoidosis are similar to those seen in adults, with the exception of lupus pernio and erythema nodosum, which are rare in that age group.

Codes

ICD10CM:
D86.3 – Sarcoidosis of skin

SNOMEDCT:
31541009 – Sarcoidosis

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Diagnostic Pearls

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Differential Diagnosis & Pitfalls

Skin lesion differential diagnoses include the following:

Papules:
Nodules:
Plaques:
Eyelid granulomatous processes include chalazion, dermal TB, fungal infections, juvenile xanthogranuloma, and foreign bodies.

Orbital granulomatous differential diagnoses are lipogranulomas, granulomatosis with polyangiitis, TB, syphilis, fungal infections, parasites (eg, microfilariae, nematode larvae), and panophthalmitis.

The differential diagnosis of granulomatous uveitis includes the following:

Best Tests

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Management Pearls

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Therapy

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Drug Reaction Data

Below is a list of drugs with literature evidence indicating an adverse association with this diagnosis. The list is continually updated through ongoing research and new medication approvals. Click on Citations to sort by number of citations or click on Medication to sort the medications alphabetically.

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References

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Last Updated:11/10/2022
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Sarcoidosis - External and Internal Eye
See also in: Overview,Hair and Scalp,Oral Mucosal Lesion
A medical illustration showing key findings of Sarcoidosis (Common Skin Lesions) : Face, Neck, Arms
Clinical image of Sarcoidosis - imageId=192732. Click to open in gallery.  caption: 'A close-up of a cluster of smooth reddish-brown papules arranged in an annulus.'
A close-up of a cluster of smooth reddish-brown papules arranged in an annulus.
Copyright © 2022 VisualDx®. All rights reserved.