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Updated: May 21, 2026

Imaging Features of Systemic Sclerosis-Associated Interstitial Lung Disease
Published on: June 16, 2020
[Early onset pediatric sarcoidosis, diagnostic problems]
G Deverrière1, A Flamans-Klein, D Firmin
1Service des urgences pédiatriques, groupe hospitalier du Havre, 55 bis, rue Gustave-Flaubert, 76600 Le Havre, France.
Insights
Pediatric sarcoidosis is rare and challenging to diagnose due to non-specific symptoms. Early recognition of this multisystem inflammatory disease is crucial for timely management and avoiding long-term complications.
Area of Science:
- Pediatric Rheumatology
- Immunology
- Rare Diseases
Background:
- Sarcoidosis is a rare multisystem inflammatory granulomatous disease of unknown origin.
- Pediatric sarcoidosis presents differently than in adults, with distinct clinical patterns based on age.
- Diagnosis is challenging due to non-specific symptoms and lack of a definitive test.
Observation:
- Children under 5 often present with a triad of rash, arthritis, and uveitis.
- Older children may exhibit multisystem disease with lung infiltration and hilar lymphadenopathy, similar to adults.
- A 4.5-year-old male initially diagnosed with juvenile rheumatoid arthritis later developed cutaneous involvement, prompting a sarcoidosis diagnosis.
Findings:
- Serum angiotensin-converting enzyme (ACE) levels can be elevated in pediatric sarcoidosis, aiding diagnosis.
- Histopathological examination showing epithelioid gigantocellular granuloma without caseating necrosis is the gold standard.
- The case highlights delayed diagnosis due to the absence of the classical triad and lack of pulmonary involvement.
Implications:
- Recognizing the unique presentations of pediatric sarcoidosis is vital for early diagnosis.
- Prompt diagnosis and management can prevent long-term complications, such as steroid dependence.
- Further research into pediatric sarcoidosis is needed to improve diagnostic strategies and patient outcomes.
Abstract:
Sarcoidosis, a chronic multisystem inflammatory granulomatous disorder of unknown origin, is a rare disease in children. Two distinct clinical presentations of sarcoidosis in childhood are known. Older children usually show multisystem disease, close to the adult manifestation, with lung infiltration and frequent hilar lymphadenopathy. Prior to the age of 5, sarcoidosis reveals more frequently with the classical triad of rash, arthritis, and uveitis. Due to non-specific clinical features and the lack of a specific test, recognizing sarcoidosis can be difficult in the pediatric population. Moreover, unlike in adults, lung involvement is rare in pediatric sarcoidosis. Given the lack of a definitive blood test, the World Association of Sarcoidosis and Other Granulomatous disorders (WASOG) only recommends dosing the serum angiotensin-converting enzyme (ACE). Its level is usually higher in children than in adults, but an increased ACE may help in the diagnosis. The gold standard is a biopsy specimen with typical epithelioid gigantocellular granuloma without caseating necrosis granuloma, after other disorders known to cause granulomatous disease have been reasonably excluded. We report here the case of a 4.5-year-old male with the history of polyarthritis and uveitis, considered first as juvenile rheumatoid arthritis, followed 5 years later by cutaneous involvement, which led to reconsidering the diagnosis. There were no pulmonary clinical findings. Histology provided the diagnosis of sarcoidosis. He then developed dependence on steroids. The lack of the classical triad delayed the diagnosis several years. This case shows the pediatric singularity of sarcoidosis, which needs to be known so that early and appropriate follow-up can be conducted.
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