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Phakomatosis cesiomarmorata

MedGen UID:
825141
Concept ID:
C3839296
Congenital Abnormality
Synonyms: Phakomatosis caesiomarmorata; phakomatosis caesiomarmorata; phakomatosis cesiomarmorata; Phakomatosis pigmentovascularis type 5; phakomatosis pigmentovascularis type 5
SNOMED CT: Phakomatosis caesiomarmorata (703286006); Phakomatosis cesiomarmorata (703286006)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Monarch Initiative: MONDO:0019326
Orphanet: ORPHA79484

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPhakomatosis cesiomarmorata

Recent clinical studies

Etiology

Torchia D
Acta Dermatovenerol Alp Pannonica Adriat 2021 Mar;30(1):27-30. PMID: 33765754
Kumar A, Zastrow DB, Kravets EJ, Beleford D, Ruzhnikov MRZ, Grove ME, Dries AM, Kohler JN, Waggott DM, Yang Y, Huang Y; Undiagnosed Diseases Network, Mackenzie KM, Eng CM, Fisher PG, Ashley EA, Teng JM, Stevenson DA, Shieh JT, Wheeler MT, Bernstein JA
Am J Med Genet A 2019 Jun;179(6):966-977. Epub 2019 Mar 28 doi: 10.1002/ajmg.a.61134. PMID: 30920161Free PMC Article
Nanda A, Al-Abdulrazzaq HK, Habeeb YK, Zakkiriah M, Alghadhfan F, Al-Noun R, Al-Ajmi H
Indian J Dermatol Venereol Leprol 2016 May-Jun;82(3):298-303. doi: 10.4103/0378-6323.178905. PMID: 27088932
Fernández-Guarino M, Boixeda P, de Las Heras E, Aboin S, García-Millán C, Olasolo PJ
J Am Acad Dermatol 2008 Jan;58(1):88-93. Epub 2007 Nov 28 doi: 10.1016/j.jaad.2007.08.012. PMID: 18045734
Happle R
Arch Dermatol 2005 Mar;141(3):385-8. doi: 10.1001/archderm.141.3.385. PMID: 15781681

Diagnosis

Torchia D
Acta Dermatovenerol Alp Pannonica Adriat 2021 Mar;30(1):27-30. PMID: 33765754
Kumar A, Zastrow DB, Kravets EJ, Beleford D, Ruzhnikov MRZ, Grove ME, Dries AM, Kohler JN, Waggott DM, Yang Y, Huang Y; Undiagnosed Diseases Network, Mackenzie KM, Eng CM, Fisher PG, Ashley EA, Teng JM, Stevenson DA, Shieh JT, Wheeler MT, Bernstein JA
Am J Med Genet A 2019 Jun;179(6):966-977. Epub 2019 Mar 28 doi: 10.1002/ajmg.a.61134. PMID: 30920161Free PMC Article
Kaur T, Sharma N, Sethi A, Kooner S, Banger H
Dermatol Online J 2015 Sep 17;21(9) PMID: 26437284
Byrom L, Surjana D, Yoong C, Zappala T
Dermatol Online J 2015 Jun 16;21(6) PMID: 26158369
Torrelo A, Zambrano A, Happle R
J Eur Acad Dermatol Venereol 2006 Mar;20(3):308-10. doi: 10.1111/j.1468-3083.2006.01395.x. PMID: 16503893

Prognosis

Happle R
Arch Dermatol 2005 Mar;141(3):385-8. doi: 10.1001/archderm.141.3.385. PMID: 15781681

Clinical prediction guides

Nanda A, Al-Abdulrazzaq HK, Habeeb YK, Zakkiriah M, Alghadhfan F, Al-Noun R, Al-Ajmi H
Indian J Dermatol Venereol Leprol 2016 May-Jun;82(3):298-303. doi: 10.4103/0378-6323.178905. PMID: 27088932

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