Two sisters with multiple sclerosis, lamellar ichthyosis, beta thalassaemia minor and a deficiency of factor VIII

R Capra; F Mattioli; B Kalman; N Marcianò; A Berenzi; A Benetti

doi:10.1007/BF00839963

Two sisters with multiple sclerosis, lamellar ichthyosis, beta thalassaemia minor and a deficiency of factor VIII

J Neurol. 1993 Jun;240(6):336-8. doi: 10.1007/BF00839963.

Authors

R Capra¹, F Mattioli, B Kalman, N Marcianò, A Berenzi, A Benetti

Affiliation

¹ Institute of Clinical Neurology, University of Brescia, Italy.

PMID: 8336172
DOI: 10.1007/BF00839963

Abstract

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.

Publication types

Case Reports

MeSH terms

Adult
Family
Female
Hemophilia A / complications
Hemophilia A / genetics*
Humans
Ichthyosis, Lamellar / complications
Ichthyosis, Lamellar / genetics*
Multiple Sclerosis / complications
Multiple Sclerosis / genetics*
Pedigree
beta-Thalassemia / complications
beta-Thalassemia / genetics*