Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome is characterized by the association of multiple sclerosis with lamellar ichthyosis (see this term) and hematological anomalies (beta thalassemia minor and a quantitative deficit of factor VIII-von Willebrand complex). Other clinical manifestations may include eye involvement (optic atrophy diplopia) neuromuscular involvement (ataxia pyramidal syndrome gait disturbance) and sensory disorder. There have been no further descriptions in the literature since 1992.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version September 2024
Newly diagnosed with
Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Advocacy Organizations
Save One Life, Inc
Empowering individuals and families affected by bleeding disorders in developing countries through direct financial assistance and access to medical treatment.
Don't see your organization here. Let us know here.
Clinical Trials
For a list of clinical trials in this disease area, please click here.