Sarcoidosis
See also in: External and Internal Eye,Hair and Scalp,Oral Mucosal LesionAlerts and Notices
Synopsis
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, peripheral lymph nodes, heart, kidneys, gastrointestinal tract, nervous system, liver, spleen, bone, muscle, and endocrine glands. 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.
Ten to thirty percent of patients will present with Löfgren syndrome with arthritis, erythema nodosum, and bilateral hilar adenopathy. Women more commonly have erythema nodosum, and men more commonly have ankle periarticular inflammation or arthritis. Two-thirds of patients achieve remission within a decade with few consequences, with the majority within 3 years. The remaining one-third have progressive disease with significant organ impairment.
Approximately 25% of patients will have cutaneous involvement and, commonly, many patients have skin-limited disease. Asymptomatic red-brown dermal papules and/or plaques that favor the face, neck, upper extremities, and upper trunk are the most common specific cutaneous sarcoid lesions. Less common manifestations include sarcoid lesions with epidermal change such as scale, hypopigmentation, subcutaneous nodules, cicatricial alopecia, ulceration, and scar. May occur in tattoos.
Mortality is most commonly due to significant granulomatous disease in the lungs and heart, leading to respiratory failure, cardiac arrhythmias, and heart failure. Central nervous system (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 IL-2.
Variants:
- Löfgren syndrome – Erythema nodosum with fever, hilar adenopathy, anterior uveitis, and migrating polyarthritis.
- Lupus pernio – Violaceous papules and plaques that are most commonly found on areas affected by the cold (hence, the name pernio): nose, ears, cheeks. Approximately 75% of patients with lupus pernio have chronic sarcoidosis of the lungs, and approximately 50% of patients will have upper respiratory tract involvement. Cystic lesions in the distal portion of the phalanges can be seen. In contrast to other cutaneous sarcoid lesions, lupus pernio can result in scarring.
- Darier-Roussy disease – Also known as subcutaneous nodular sarcoidosis, this disease is characterized by asymptomatic, firm, mobile subcutaneous nodules without epidermal involvement.
- Heerfordt syndrome – Fever, uveitis, parotid gland enlargement, and cranial nerve palsies. The facial nerve is often affected.
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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Differential Diagnosis & Pitfalls
Sarcoidosis is a diagnosis of exclusion, on a clinical and histologic level. Clinically, sarcoid papules, nodules, and plaques are not unique, and a histologic evaluation is often required. The histologic differential is broad, and detailed histologic findings are beyond the scope of this text. Special stains for acid-fast and fungal organisms and tissue cultures should be obtained when necessary.The following is a clinical differential of sarcoidosis:
Granulomatous lung disease:
- Infectious conditions such as tuberculosis, atypical mycobacterial infections, and invasive fungal infections such as histoplasmosis, aspergillosis, blastomycosis, or Pneumocystis jirovecii infections
- Hypersensitivity pneumonitis, pneumoconiosis, drug-induced hypersensitivity pneumonitis
- Pulmonary histiocytic disorders, foreign body granulomatosis
- Vasculitides such as granulomatosis with polyangiitis, eosinophilic granulomatosis with polyangiitis (Churg-Strauss syndrome), and pulmonary lymphomatoid granulomatosis
Papules:
- Acne rosacea
- Granuloma annulare – Biopsy will assist in differentiation.
- Leprosy – Skin lesions are anesthetic. Look for inflamed nerve and acid-fast bacilli on skin biopsy.
- Tuberculosis – Tuberculin skin testing (Mantoux test); submit sputum for smear and culture of acid-fast bacilli.
- Lichen planus – Violaceous, flat-topped papules that are pruritic. Biopsy will differentiate.
- Trichoepitheliomas
- Tuberous sclerosis (adenoma sebaceum)
- Lupus erythematosus – Check antinuclear antibodies (ANA), anti-ds DNA.
- Secondary syphilis – Check rapid plasma reagin (RPR), fluorescent treponemal antibody (FTA), look for systemic symptoms, history of primary chancre.
- Leukemia cutis / lymphoma cutis
- Pseudolymphoma
- Tertiary syphilis – Check RPR, FTA, look for systemic symptoms, history of primary chancre.
- Tuberculosis – Tuberculin skin testing (Mantoux test); submit sputum for smear and culture of acid-fast bacilli.
- Necrobiosis lipoidica
- Psoriasis – Pruritic, characteristic silvery, scaly plaques.
- Tinea corporis – Check potassium hydroxide (KOH).
- Morphea – Look for shiny, taut appearance. Biopsy will assist in differentiation.
- Ichthyosis
- Leprosy – Lesions are anesthetic; look for inflamed nerve and acid-fast bacilli on skin biopsy.
- Leishmaniasis (Old World and New World) – Usually develops into plaques with central ulceration. Microscopy or biopsy should reveal the parasite in the majority of cases.
- Granulomatosis with polyangiitis
- Rhinoscleroma
Polyarticular juvenile rheumatoid arthritis must be considered in the differential, given the combination of skin, eye, and joint manifestations in children younger than 6 years.
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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.Subscription Required
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Last Reviewed: 11/18/2016
Last Updated: 10/26/2017
Last Updated: 10/26/2017
Sarcoidosis
See also in: External and Internal Eye,Hair and Scalp,Oral Mucosal Lesion
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