U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Bilateral Temporal Arachnoid Cysts Associated With Phakomatosis Cesioflammea.
Pérez-López I, Herrera García JD, Ayén Rodríguez A, Ruiz-Villaverde R
Actas Dermosifiliogr 2024 Apr;115(4):425-426. Epub 2023 Jul 22 doi: 10.1016/j.ad.2022.10.052. PMID: 37482295
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

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Reviews

    Related information

    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...