Chapter 150: Pediatric Sarcoidosis

Patient Story

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.

Introduction

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

Synonyms

• Juvenile early onset sarcoidosis.

• Juvenile late onset sarcoidosis.

• Juvenile systemic granulomatosis.

• Childhood sarcoidosis.

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

Epidemiology

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

• Male/female ratio = 1.

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

  • Early:

    • Presents within the first four years of life.

    • Triad of arthritis/rash/uveitis.

    • Predominantly Caucasian ...