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Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome

MedGen UID:
1391655
•Concept ID:
C4518551
•
Disease or Syndrome
Synonyms: Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome; multiple sclerosis-ichthyosis-factor VIII deficiency syndrome
SNOMED CT: Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome (733028000)
Modes of inheritance:
Unknown inheritance
MedGen UID:
989040
•Concept ID:
CN307042
•
Finding
Source: Orphanet
Hereditary clinical entity whose mode of inheritance is unknown.
See: This record
Unknown inheritance (Orphanet)
 
Monarch Initiative: MONDO:0017837
Orphanet: ORPHA3151

Definition

Syndrome that is characterized by the association of multiple sclerosis with lamellar ichthyosis 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. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMultiple sclerosis-ichthyosis-factor VIII deficiency syndrome

Professional guidelines

PubMed

Acquired von Willebrand syndromes: clinical features, aetiology, pathophysiology, classification and management.
Michiels JJ, Budde U, van der Planken M, van Vliet HH, Schroyens W, Berneman Z
Best Pract Res Clin Haematol 2001 Jun;14(2):401-36. doi: 10.1053/beha.2001.0141. PMID: 11686107

Recent clinical studies

Etiology

Successful Perioperative Management of Orthotopic Cardiac Transplantation in a Pediatric Patient With Concurrent Congenital von Willebrand Disease and Acquired von Willebrand Syndrome Using Recombinant von Willebrand Factor.
Batsuli G, Zimowski KL, Carroll R, White MH, Woods GM, Meeks SL, Sidonio RF Jr
J Cardiothorac Vasc Anesth 2022 Mar;36(3):724-727. Epub 2021 Jan 27 doi: 10.1053/j.jvca.2021.01.038. PMID: 33618961
Relapse pattern and long-term outcomes in subjects with acquired haemophilia A.
Mizrahi T, Doyon K, Dubé E, Bonnefoy A, Warner M, Cloutier S, Demers C, Castilloux JF, Rivard GE, St-Louis J
Haemophilia 2019 Mar;25(2):252-257. Epub 2019 Jan 29 doi: 10.1111/hae.13685. PMID: 30694571
Relationship between progression to AIDS and thrombophilic abnormalities in HIV infection.
Lijfering WM, Sprenger HG, Georg RR, van der Meulen PA, van der Meer J
Clin Chem 2008 Jul;54(7):1226-33. Epub 2008 May 1 doi: 10.1373/clinchem.2008.103614. PMID: 18451311
Critical issues in hematology: anemia, thrombocytopenia, coagulopathy, and blood product transfusions in critically ill patients.
Drews RE
Clin Chest Med 2003 Dec;24(4):607-22. doi: 10.1016/s0272-5231(03)00100-x. PMID: 14710693
Coagulation-factor deficiencies and abnormal bleeding in Noonan's syndrome.
Sharland M, Patton MA, Talbot S, Chitolie A, Bevan DH
Lancet 1992 Jan 4;339(8784):19-21. doi: 10.1016/0140-6736(92)90141-o. PMID: 1345952

Diagnosis

Relapse pattern and long-term outcomes in subjects with acquired haemophilia A.
Mizrahi T, Doyon K, Dubé E, Bonnefoy A, Warner M, Cloutier S, Demers C, Castilloux JF, Rivard GE, St-Louis J
Haemophilia 2019 Mar;25(2):252-257. Epub 2019 Jan 29 doi: 10.1111/hae.13685. PMID: 30694571
Congenital limb deficiency disorders.
Wilcox WR, Coulter CP, Schmitz ML
Clin Perinatol 2015 Jun;42(2):281-300, viii. doi: 10.1016/j.clp.2015.02.004. PMID: 26042905
Drug-associated disease: hematologic dysfunction.
Vandendries ER, Drews RE
Crit Care Clin 2006 Apr;22(2):347-55, viii. doi: 10.1016/j.ccc.2006.02.002. PMID: 16678004
Inhibitors to clotting factors.
Sallah S
Ann Hematol 1997 Jul-Aug;75(1-2):1-7. doi: 10.1007/s002770050305. PMID: 9322677
Kaposi sarcoma in Okinawa.
Kamada Y, Iwamasa T, Miyazato M, Sunagawa K, Kunishima N
Cancer 1992 Aug 15;70(4):861-8. doi: 10.1002/1097-0142(19920815)70:4<861::aid-cncr2820700423>3.0.co;2-4. PMID: 1643618

Therapy

Protein S Deficiency with Recurrent Deep Vein Thrombosis and Post Thrombotic Syndrome: A Case Report.
Neupane S, Pudasaini P, Dhakal B, Awal S, Thapa S, Subedi B
JNMA J Nepal Med Assoc 2022 Oct 1;60(254):892-894. doi: 10.31729/jnma.7694. PMID: 36705157Free PMC Article
Successful Perioperative Management of Orthotopic Cardiac Transplantation in a Pediatric Patient With Concurrent Congenital von Willebrand Disease and Acquired von Willebrand Syndrome Using Recombinant von Willebrand Factor.
Batsuli G, Zimowski KL, Carroll R, White MH, Woods GM, Meeks SL, Sidonio RF Jr
J Cardiothorac Vasc Anesth 2022 Mar;36(3):724-727. Epub 2021 Jan 27 doi: 10.1053/j.jvca.2021.01.038. PMID: 33618961
Relapse pattern and long-term outcomes in subjects with acquired haemophilia A.
Mizrahi T, Doyon K, Dubé E, Bonnefoy A, Warner M, Cloutier S, Demers C, Castilloux JF, Rivard GE, St-Louis J
Haemophilia 2019 Mar;25(2):252-257. Epub 2019 Jan 29 doi: 10.1111/hae.13685. PMID: 30694571
Drug-associated disease: hematologic dysfunction.
Vandendries ER, Drews RE
Crit Care Clin 2006 Apr;22(2):347-55, viii. doi: 10.1016/j.ccc.2006.02.002. PMID: 16678004
Inhibitors to clotting factors.
Sallah S
Ann Hematol 1997 Jul-Aug;75(1-2):1-7. doi: 10.1007/s002770050305. PMID: 9322677

Prognosis

Relapse pattern and long-term outcomes in subjects with acquired haemophilia A.
Mizrahi T, Doyon K, Dubé E, Bonnefoy A, Warner M, Cloutier S, Demers C, Castilloux JF, Rivard GE, St-Louis J
Haemophilia 2019 Mar;25(2):252-257. Epub 2019 Jan 29 doi: 10.1111/hae.13685. PMID: 30694571
Abnormal proteolysis in sick newborns.
Henriksson P, Ekelund H
Acta Paediatr Scand 1975 Mar;64(2):327-36. doi: 10.1111/j.1651-2227.1975.tb03843.x. PMID: 1130192

Clinical prediction guides

Relapse pattern and long-term outcomes in subjects with acquired haemophilia A.
Mizrahi T, Doyon K, Dubé E, Bonnefoy A, Warner M, Cloutier S, Demers C, Castilloux JF, Rivard GE, St-Louis J
Haemophilia 2019 Mar;25(2):252-257. Epub 2019 Jan 29 doi: 10.1111/hae.13685. PMID: 30694571
Relationship between progression to AIDS and thrombophilic abnormalities in HIV infection.
Lijfering WM, Sprenger HG, Georg RR, van der Meulen PA, van der Meer J
Clin Chem 2008 Jul;54(7):1226-33. Epub 2008 May 1 doi: 10.1373/clinchem.2008.103614. PMID: 18451311
Critical issues in hematology: anemia, thrombocytopenia, coagulopathy, and blood product transfusions in critically ill patients.
Drews RE
Clin Chest Med 2003 Dec;24(4):607-22. doi: 10.1016/s0272-5231(03)00100-x. PMID: 14710693
Cytomegalovirus vasculitis accompanied by an exuberant fibroblastic reaction in the intestine of an AIDS patient.
Shintaku M, Inoue N, Sasaki M, Izuno Y, Ueda Y, Ikehara S
Acta Pathol Jpn 1991 Dec;41(12):900-4. doi: 10.1111/j.1440-1827.1991.tb01636.x. PMID: 1664639
Platelet release in hemophilia.
Al-Mondhiry H
Thromb Haemost 1987 Jun 3;57(3):294-7. PMID: 2958953

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