Manifestations and treatment of Schimke immuno-osseous dysplasia: 14 new cases and a review of the literature.
Schimke immuno-osseous dysplasia (SIOD) is a rare autosomal recessive spondylo-epiphyseal dysplasia. The characteristic features of SIOD include 1) short stature with hyperpigmented macules and an unusual facies, 2) proteinuria with progressive renal failure, 3) lymphopenia with recurrent infections, and 4) cerebral ischaemia. Although 25 patients have been reported with this disorder, the clinical course and phenotype of SIOD are not well characterized. This report summarizes the clinical findings, course and treatment of reported patients and includes 14 additional patients with SIOD. We emphasize the high incidence of cerebral ischaemia and ocular abnormalities, define the high incidence of thyroid dysfunction and blood cytopenia, and confirm the absence of effective and durable medical therapies.


CONCLUSIONS
Schimke immuno-osseous dysplasia is a multi-system autosomal recessive disorder with variable expression that affects the skeletal, renal, immune, vascular, and haematopoietic systems. Medical therapy is limited especially for more severely affected individuals.
Boerkoel
C F
CF
Hospital for Sick Children, Division of Clinical and Metabolic Genetics, University of Toronto, ON, Canada.
O'Neill
S
S
André
J L
JL
Benke
P J
PJ
Bogdanovíć
R
R
Bulla
M
M
Burguet
A
A
Cockfield
S
S
Cordeiro
I
I
Ehrich
J H
JH
Fründ
S
S
Geary
D F
DF
Ieshima
A
A
Illies
F
F
Joseph
M W
MW
Kaitila
I
I
Lama
G
G
Leheup
B
B
Ludman
M D
MD
McLeod
D R
DR
Medeira
A
A
Milford
D V
DV
Ormälä
T
T
Rener-Primec
Z
Z
Santava
A
A
Santos
H G
HG
Schmidt
B
B
Smith
G C
GC
Spranger
J
J
Zupancic
N
N
Weksberg
R
R
D000293:Adolescent; D001327:Autoimmune Diseases / Q000209:etiology; D002648:Child; D002675:Child, Preschool; D018450:Disease Progression; D005260:Female; D006801:Humans; D007223:Infant; D007676:Kidney Failure, Chronic / Q000209:etiology / Q000601:surgery; D016030:Kidney Transplantation; D008297:Male; D010009:Osteochondrodysplasias / Q000175:diagnosis* / Q000276:immunology / Q000628:therapy; D013577:Syndrome