Sarcoidosis
Basics
Description
A chronic granulomatous disease (CGD) with noncaseating epithelioid giant cell granulomas in multiple organs that has two distinct variants often differentiated by age of onset
Epidemiology
- Early-onset sarcoidosis (EOS)/Blau syndrome
- Incidence 0.29/100,000/year
- No gender or geographic predominance
- Triad of arthritis, uveitis, and dermatitis presenting prior to age 5 years
- Adult-type disease (ATD)
- Incidence 1.02/100,000/year
- Likely more common in the southwestern part of the United States
- More often with systemic symptoms
- Pulmonary involvement may also occur in older adolescents.
- CNS involvement (rare): seizures, cranial neuropathy, hypothalamic dysfunction
Risk Factors
Genetics
- EOS/Blau
- Mutation in the CARD15/NOD2 gene on chromosome 16 (different location than Crohn disease) either spontaneous (EOS) or familial AD (Blau)
- ATD
- African Americans are more commonly affected than whites.
- Specific genetic tendencies not identified
Etiology
- Unknown (possibly an inflammatory response to an unknown antigen—infection)
- EOS/Blau—NOD2 is a bacterial sensor in dendritic cells; mutation is a gain-of-function leading to exuberant inflammation; possibly changes in autophagy
- Possible association with substantial dust inhalation (e.g., collapse of World Trade Center towers in New York City in 2001)
Pathophysiology
- EOS/Blau—large polycyclic granulomas with dense lymphocytic coronas, CD68+ macrophages, and CD4+ T lymphocytes; abundant inflammatory cytokine expression
- ATD—noncaseating epithelioid granulomas with monocytes/macrophages/epithelioid and multi-nucleated giant cells in the center surrounded by CD4+ T lymphocytes, plasma cells
There's more to see -- the rest of this topic is available only to subscribers.
Citation
Cabana, Michael D., editor. "Sarcoidosis." 5-Minute Pediatric Consult, 8th ed., Wolters Kluwer, 2019. Pediatrics Central, peds.unboundmedicine.com/pedscentral/view/5-Minute-Pediatric-Consult/617406/1.2/Sarcoidosis.
Sarcoidosis. In: Cabana MDM, ed. 5-Minute Pediatric Consult. Wolters Kluwer; 2019. https://peds.unboundmedicine.com/pedscentral/view/5-Minute-Pediatric-Consult/617406/1.2/Sarcoidosis. Accessed October 9, 2024.
Sarcoidosis. (2019). In Cabana, M. D. (Ed.), 5-Minute Pediatric Consult (8th ed.). Wolters Kluwer. https://peds.unboundmedicine.com/pedscentral/view/5-Minute-Pediatric-Consult/617406/1.2/Sarcoidosis
Sarcoidosis [Internet]. In: Cabana MDM, editors. 5-Minute Pediatric Consult. Wolters Kluwer; 2019. [cited 2024 October 09]. Available from: https://peds.unboundmedicine.com/pedscentral/view/5-Minute-Pediatric-Consult/617406/1.2/Sarcoidosis.
* Article titles in AMA citation format should be in sentence-case
TY - ELEC
T1 - Sarcoidosis
ID - 617406
ED - Cabana,Michael D,
BT - 5-Minute Pediatric Consult
UR - https://peds.unboundmedicine.com/pedscentral/view/5-Minute-Pediatric-Consult/617406/1.2/Sarcoidosis
PB - Wolters Kluwer
ET - 8
DB - Pediatrics Central
DP - Unbound Medicine
ER -