Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome

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Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome

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 March 2024

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National Center of Hematology and Blood Transfusion

Treatment of patients with blood diseases,scientific-research works

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