Printable factfile
Patients have maculopapular urticarial skin rash, often present at birth but whose presence varies with time, articular signs of variable of expression including transient swelling or anomalies of growth cartilage with no inflammatory cells, symptoms of central nervous system like headache. Infants are born preterm or dysmature.
Diagnosis
Diagnostic recommendations
Additional Information
Therapeutic options
- Treatment is symptomatic, oral steroids and anti-inflammatory drug therapy.