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sarcoidosis early onset
Epidemiology: rare
Genetics:
- associated with defects in NOD2
Clinical manifestations:
- a form of sarcoidosis manifesting in children < 4 years of age
- distinct triad of skin, joint & eye disorders, without apparent pulmonary involvement
- progressive disorder
Complications:
- blindness
- joint destruction
- visceral involvement
Differential diagnosis:
- in older children, sarcoidosis may be asymptomatic & sometimes naturally disappearing
General
sarcoidosis
genetic syndrome (multisystem disorder)
Database Correlations
OMIM 609464
References
OMIM :accession 609464