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

More general terms

• sarcoidosis
• genetic syndrome (multisystem disorder)

Database

• OMIM: https://mirror.omim.org/entry/609464