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Phakomatosis cesioflammea

MedGen UID:
824729
•Concept ID:
C3838883
•
Congenital Abnormality
Synonyms: phakomatosis cesioflammea; Phakomatosis pigmentovascularis type 2; phakomatosis pigmentovascularis type 2
SNOMED CT: Phakomatosis cesioflammea (703284009)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
•Concept ID:
CN307044
•
Finding
Source: Orphanet
clinical entity without genetic inheritance.
See: This record
Not genetically inherited (Orphanet)
 
Monarch Initiative: MONDO:0019325
Orphanet: ORPHA79483

Term Hierarchy

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

Recent clinical studies

Etiology

Phakomatosis cesioflammea with late-onset glaucoma and acquired nevus spilus-like lesion - 15 years of follow-up.
Chiu HH, Chen GS, Wu CS, Ke CL, Cheng ST
Int J Dermatol 2009 Apr;48(4):416-8. doi: 10.1111/j.1365-4632.2009.03885.x. PMID: 19335431
Phakomatosis pigmentovascularis: Clinical findings in 15 patients and review of the literature.
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

Diagnosis

Early-Onset Glaucoma Manifesting as Buphthalmos in an Infant with Phakomatosis Pigmentovascularis Type IIa.
Senthilkumar VA, Krishnadas R, Puthuran GV, Ravichandar A
Ophthalmol Glaucoma 2020 Nov-Dec;3(6):481-483. Epub 2020 Jul 21 doi: 10.1016/j.ogla.2020.07.007. PMID: 32707178

Prognosis

Phakomatosis cesioflammea with late-onset glaucoma and acquired nevus spilus-like lesion - 15 years of follow-up.
Chiu HH, Chen GS, Wu CS, Ke CL, Cheng ST
Int J Dermatol 2009 Apr;48(4):416-8. doi: 10.1111/j.1365-4632.2009.03885.x. PMID: 19335431

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