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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.
 
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

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

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
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
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
Drews RE
Clin Chest Med 2003 Dec;24(4):607-22. doi: 10.1016/s0272-5231(03)00100-x. PMID: 14710693
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

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
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
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
Vandendries ER, Drews RE
Crit Care Clin 2006 Apr;22(2):347-55, viii. doi: 10.1016/j.ccc.2006.02.002. PMID: 16678004
Sallah S
Ann Hematol 1997 Jul-Aug;75(1-2):1-7. doi: 10.1007/s002770050305. PMID: 9322677

Therapy

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
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
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
Vandendries ER, Drews RE
Crit Care Clin 2006 Apr;22(2):347-55, viii. doi: 10.1016/j.ccc.2006.02.002. PMID: 16678004
Sallah S
Ann Hematol 1997 Jul-Aug;75(1-2):1-7. doi: 10.1007/s002770050305. PMID: 9322677

Prognosis

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
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

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
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
Drews RE
Clin Chest Med 2003 Dec;24(4):607-22. doi: 10.1016/s0272-5231(03)00100-x. PMID: 14710693
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
Al-Mondhiry H
Thromb Haemost 1987 Jun 3;57(3):294-7. PMID: 2958953

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