[Blau syndrome in monozygotic twins].
This case report describes Blau syndrome in monozygotic twins. The disease ran an identical course in both patients, starting with a maculopapulous exanthema at one year of age. Skin biopsies showed epithelioid cell granulomas with multinucleated giant cells. Shortly after arthritis and periarticular swelling developed and uveitis appeared at 8 years of age. Treatment consisted of prednisolone and methotrexate, and from 18 years of age of infliximab, with good effect. DNA analysis showed de novo R334W mutation in the CARD15 gene. The patients have now been followed for 19 years and are in good clinical condition.
Milman
Nils
N
H:S Rigshospitalet, Hjertecentret, Afsnit for Lungetransplantation, Reumatologisk Afdeling, København Ø. milman@rh.dk
Hansen
Annette
A
van Overeem Hansen
Thomas
T
Byg
Keld-Erik
KE
Nielsen
Ole Haagen
OH
D000293:Adolescent; D000328:Adult; D001168:Arthritis / Q000188:drug therapy / Q000235:genetics / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D004200:Diseases in Twins / Q000235:genetics / Q000473:pathology; D005076:Exanthema / Q000188:drug therapy / Q000235:genetics / Q000473:pathology; D006099:Granuloma / Q000188:drug therapy / Q000235:genetics / Q000473:pathology; D006801:Humans; D007223:Infant; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics; D053473:Nod2 Signaling Adaptor Protein; D012867:Skin / Q000473:pathology; D013577:Syndrome; D014430:Twins, Monozygotic; D014605:Uveitis / Q000188:drug therapy / Q000235:genetics / Q000473:pathology
D047908:Intracellular Signaling Peptides and Proteins; C429018:NOD2 protein, human; D053473:Nod2 Signaling Adaptor Protein