Two sisters with multiple sclerosis, lamellar ichthyosis, beta thalassaemia minor and a deficiency of factor VIII.
Two of four sisters have multiple sclerosis (MS), lamellar ichthyosis, beta thalassaemia minor and a quantitative deficit of factor VIII-von Willebrand complex. The mother and the other sisters have only beta thalassaemia minor. The association of MS and a cluster of genetically determined diseases is rare. Such families could offer a new approach to the investigation of the polygenetic background of MS.
Capra
R
R
Institute of Clinical Neurology, University of Brescia, Italy.
Mattioli
F
F
Kalman
B
B
Marcianò
N
N
Berenzi
A
A
Benetti
A
A
D000328:Adult; D005190:Family; D005260:Female; D006467:Hemophilia A / Q000150:complications / Q000235:genetics*; D006801:Humans; D017490:Ichthyosis, Lamellar / Q000150:complications / Q000235:genetics*; D009103:Multiple Sclerosis / Q000150:complications / Q000235:genetics*; D010375:Pedigree; D017086:beta-Thalassemia / Q000150:complications / Q000235:genetics*