A 4-year-old boy presents with “multiple bumps” that have been growing on his face (Figure 150-1). The differential diagnosis of these lesions included cutaneous sarcoidosis and granuloma annulare. A punch biopsy was performed and the diagnosis of sarcoidosis was made.

Sarcoidosis is a multisystem granulomatous disease most commonly involving the skin, lungs, lymph nodes, liver, and eyes. There is no clear gender predominance in childhood sarcoidosis.¹ Of interest, outside the US sarcoidosis mainly occurs in the predominant race of the country.² Higher incidences of cases occur in certain parts of the world, including Sweden in Europe and the South Atlantic and Gulf States in the US.^3–5

In the pediatric population, sarcoidosis is divided into early and late onset. Early onset involves children in their first four years of life, presenting with a triad of arthritis, rash, and uveitis.⁴ In this patient population, typical pulmonary disease occurs in about 22 percent of children in this age group.⁶ Early onset sarcoidosis is seen mostly in Caucasian patients and these patients may have a protracted course with severe morbidity and residual impairments.^7,8

Late onset sarcoidosis in children presents as a multisystem disorder, with lung involvement most common.⁶ Up to 60 percent of children have an abnormal chest x-ray at initial presentation, with the predominant symptom being a mild, dry, chronic cough.⁶  The eyes are also affected in older children (20 to 30%).^3,9 Symptoms include eye redness, blurred vision, photophobia, and ocular pain. Ophthalmic sarcoidosis manifests as uveitis with anterior segment involvement (84% of cases).⁹ Other complications include optic neuritis, band keratopathy, cataracts, glaucoma, and retinal vasculitis. Other organ systems may be involved including the reticuloendothelial system (enlargement of lymph nodes),¹ cutaneous (erythema nodosum),² musculoskeletal (joint effusions, arthralgias, myositis),² renal (nephrocalcinosis, abnormal urinalysis),^3,10 cardiovascular (arrhythmias, sudden death),¹¹ central nervous system (seizures, cranial neuropathies, diabetes insipidus, growth hormone deficiency),^6,12,13 and hepatic (abnormal liver function tests) systems.¹⁴

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  Juvenile early onset sarcoidosis.

  
  
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  Juvenile late onset sarcoidosis.

  
  
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  Juvenile systemic granulomatosis.

  
  
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  Childhood sarcoidosis.

  
  
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  Lupus pernio (sarcoidosis of the face that resembles cutaneous lupus).

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  Rare in pediatric age group; more common in adolescents and young adults.

  
  
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  Male/female ratio = 1.

  
  
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  Two distinct forms of juvenile sarcoidosis—Early onset and late onset.

  
  
  
  
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    Early:

    
    
    
    
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      Presents within the first four years of life.

      
      
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      Triad of arthritis/rash/uveitis.

      
      
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      Predominantly Caucasian patients.

      
      
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      Progressive and debilitating course

    
    
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    Late:

    
    
    
    
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      Older children, adolescence.

      
      
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      Multi organ involvement.

      
      
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      Predominantly African American patients.

  
  
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  Common types are maculopapular, lupus pernio, cutaneous, or subcutaneous nodules, and infiltrative scars.

  
  
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  Erythema nodosum (EN) occurs in 31 percent of patients with sarcoidosis and is the most common associated skin finding (see Chapter 152, Erythema Nodosum).

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  Studies reveal that siblings of patients with sarcoidosis exhibit an increased risk of involvement thus implying a genetic component.¹⁵

  
  
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  Sarcoidosis is a granulomatous disease with involvement of multiple organ systems with an unknown etiology.

  
  
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  The typical findings in sarcoid lesions are characterized by the presence of circumscribed granulomas of epithelioid cells with little or no caseating necrosis, although fibrinoid necrosis is not uncommon.

  
  
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  Granulomas are usually in the superficial dermis but may involve the thickness of dermis and extend to the subcutaneous tissue. These granulomas are referred to as “naked” because they only have a sparse lymphocytic infiltrate at their margins.

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  Positive family history.

  
  
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  African descent, as familial clustering is more commonly observed in this population.

Clinical Forms of Disease

Cutaneous involvement is either specific or nonspecific.

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  Specific:

  
  
  
  
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    Typical noncaseating granulomas, no evidence of infection, foreign body, or other causes.

    
    
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    May be disfiguring, but almost always nontender and rarely ulcerate.

    
    
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    Papules, plaques or nodules is most common, red-brown or purplish, usually smaller than 1 cm, and found mostly on face, neck, upper back, and limbs (Figure 150-2).

    
    
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    Lupus pernio type sarcoidosis (Figures 150-3 to 150-5) presents as purplish lesions resembling frostbites with shiny skin covering them, typically affecting nose, cheeks, ears, and lips.

    
    
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    Plaque sarcoidosis is typically chronic, occurring over the forehead, extremities, and shoulders, but may heal without scarring.

    
    
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    Nodular cutaneous and subcutaneous plaques that are skin-colored or violaceous without epidermal involvement are typically seen in advanced systemic sarcoidosis.

    
    
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    Areas of old scars that are damaged by trauma, radiation, surgery, or tattoo may also be infiltrated with sarcoid granulomas (Figures 150-6 and 150-7). Lesions may be tender and appear indurated with red or purple discoloration.

  
  
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  Nonspecific:

  
  
  
  
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    Erythema nodosum (EN) lesions usually are not disfiguring, but tender to touch, especially when they occur with fever, polyarthralgias, and sometimes arthritis and acute iritis.

    
    
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    EN appears abruptly with warm, tender, reddish nodules on the lower extremities, most commonly the anterior tibial surfaces, ankles, and knees.

    
    
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    EN nodules are 1 to 5 cm, usually bilateral, and evolve through color stages: first bright red, then purplish, and lastly a bruise-like yellow or green appearance.

    
    
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    EN is seen in the setting of Löfgren syndrome, appearing in conjunction with hilar lymphadenopathy (bilateral most often), and occasionally anterior uveitis and/or polyarthritis.

    
    
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    Ulceration is typically not observed in EN, which heals without scarring.

    
    
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    Early-onset childhood sarcoidosis may present with enchondromatosis.¹⁶