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Focal dysplasia

MedGen UID:
105517
•Concept ID:
C0522618
•
Congenital Abnormality
Synonym: Focal Dysplasia
SNOMED CT: Focal dysplasia (103675006)

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFocal dysplasia

Professional guidelines

PubMed

Occipital lobe developmental malformations and epilepsy: clinical spectrum, treatment, and outcome.
Kuzniecky R, Gilliam F, Morawetz R, Faught E, Palmer C, Black L
Epilepsia 1997 Feb;38(2):175-81. doi: 10.1111/j.1528-1157.1997.tb01094.x. PMID: 9048669

Recent clinical studies

Etiology

Multi-focal dysplasia is associated with high recurrence rates after successful ablation of dysplastic Barrett's esophagus.
Sapoznikov B, Fisch G, Shamah S, Shinhar N, Benjaminov F, Levi Z, Peleg N
Dig Liver Dis 2023 Dec;55(12):1667-1672. Epub 2023 Jul 28 doi: 10.1016/j.dld.2023.07.016. PMID: 37517963
Intestinal metaplasia of the bladder with dysplasia: a risk factor for carcinoma?
Gordetsky J, Epstein JI
Histopathology 2015 Sep;67(3):325-30. Epub 2015 Mar 8 doi: 10.1111/his.12661. PMID: 25640978
Reflux disease and Barrett's esophagus.
Haag S, Holtmann G
Endoscopy 2003 Feb;35(2):112-7. doi: 10.1055/s-2003-37013. PMID: 12561004
West syndrome: etiological and prognostic aspects.
Watanabe K
Brain Dev 1998 Jan;20(1):1-8. doi: 10.1016/s0387-7604(97)00085-5. PMID: 9533552
Malignant transformation of benign epithelial gastric polyps.
Orlowska J, Jarosz D, Pachlewski J, Butruk E
Am J Gastroenterol 1995 Dec;90(12):2152-9. PMID: 8540506

Diagnosis

Focal dysplasia of the cerebral cortex and infantile spasms associated with somatic 1q21.1-q44 duplication including the AKT3 gene.
Conti V, Pantaleo M, Barba C, Baroni G, Mei D, Buccoliero AM, Giglio S, Giordano F, Baek ST, Gleeson JG, Guerrini R
Clin Genet 2015 Sep;88(3):241-7. Epub 2014 Oct 7 doi: 10.1111/cge.12476. PMID: 25091978
Reflux disease and Barrett's esophagus.
Haag S, Holtmann G
Endoscopy 2003 Feb;35(2):112-7. doi: 10.1055/s-2003-37013. PMID: 12561004
Endoscopic mapping and surrogate markers for better surveillance in Barrett esophagus. A study of 700 biopsy specimens.
Bhargava P, Eisen GM, Holterman DA, Azumi N, Hartmann DP, Hanfelt JJ, Benjamin SB, Lippman ME, Montgomery EA
Am J Clin Pathol 2000 Oct;114(4):552-63. doi: 10.1309/93WG-ERRB-PN57-C15A. PMID: 11026101
Malignant transformation of benign epithelial gastric polyps.
Orlowska J, Jarosz D, Pachlewski J, Butruk E
Am J Gastroenterol 1995 Dec;90(12):2152-9. PMID: 8540506
Nonlissencephalic cortical dysplasias: correlation of imaging findings with clinical deficits.
Barkovich AJ, Kjos BO
AJNR Am J Neuroradiol 1992 Jan-Feb;13(1):95-103. PMID: 1375803Free PMC Article

Therapy

Multi-focal dysplasia is associated with high recurrence rates after successful ablation of dysplastic Barrett's esophagus.
Sapoznikov B, Fisch G, Shamah S, Shinhar N, Benjaminov F, Levi Z, Peleg N
Dig Liver Dis 2023 Dec;55(12):1667-1672. Epub 2023 Jul 28 doi: 10.1016/j.dld.2023.07.016. PMID: 37517963
Exposure of Human Skin Organoids to Low Genotoxic Stress Can Promote Epithelial-to-Mesenchymal Transition in Regenerating Keratinocyte Precursor Cells.
Cavallero S, Neves Granito R, Stockholm D, Azzolin P, Martin MT, Fortunel NO
Cells 2020 Aug 18;9(8) doi: 10.3390/cells9081912. PMID: 32824646Free PMC Article
In search of models of pharmacoresistant epilepsy.
Wahab A, Albus K, Gabriel S, Heinemann U
Epilepsia 2010 Jul;51 Suppl 3:154-9. doi: 10.1111/j.1528-1167.2010.02632.x. PMID: 20618423
Reflux disease and Barrett's esophagus.
Haag S, Holtmann G
Endoscopy 2003 Feb;35(2):112-7. doi: 10.1055/s-2003-37013. PMID: 12561004
Endoscopic mapping and surrogate markers for better surveillance in Barrett esophagus. A study of 700 biopsy specimens.
Bhargava P, Eisen GM, Holterman DA, Azumi N, Hartmann DP, Hanfelt JJ, Benjamin SB, Lippman ME, Montgomery EA
Am J Clin Pathol 2000 Oct;114(4):552-63. doi: 10.1309/93WG-ERRB-PN57-C15A. PMID: 11026101

Prognosis

Grading oral epithelial dysplasia: analysis of individual features.
Tilakaratne WM, Sherriff M, Morgan PR, Odell EW
J Oral Pathol Med 2011 Aug;40(7):533-40. Epub 2011 Apr 18 doi: 10.1111/j.1600-0714.2011.01033.x. PMID: 21501232
Endoscopic mapping and surrogate markers for better surveillance in Barrett esophagus. A study of 700 biopsy specimens.
Bhargava P, Eisen GM, Holterman DA, Azumi N, Hartmann DP, Hanfelt JJ, Benjamin SB, Lippman ME, Montgomery EA
Am J Clin Pathol 2000 Oct;114(4):552-63. doi: 10.1309/93WG-ERRB-PN57-C15A. PMID: 11026101
West syndrome: etiological and prognostic aspects.
Watanabe K
Brain Dev 1998 Jan;20(1):1-8. doi: 10.1016/s0387-7604(97)00085-5. PMID: 9533552
Malignant transformation of benign epithelial gastric polyps.
Orlowska J, Jarosz D, Pachlewski J, Butruk E
Am J Gastroenterol 1995 Dec;90(12):2152-9. PMID: 8540506
Frontal and central lobe focal dysplasia: clinical, EEG and imaging features.
Kuzniecky R, Morawetz R, Faught E, Black L
Dev Med Child Neurol 1995 Feb;37(2):159-66. doi: 10.1111/j.1469-8749.1995.tb11985.x. PMID: 7851672

Clinical prediction guides

Grading oral epithelial dysplasia: analysis of individual features.
Tilakaratne WM, Sherriff M, Morgan PR, Odell EW
J Oral Pathol Med 2011 Aug;40(7):533-40. Epub 2011 Apr 18 doi: 10.1111/j.1600-0714.2011.01033.x. PMID: 21501232
S100P, von Hippel-Lindau gene product, and IMP3 serve as a useful immunohistochemical panel in the diagnosis of adenocarcinoma on endoscopic bile duct biopsy.
Levy M, Lin F, Xu H, Dhall D, Spaulding BO, Wang HL
Hum Pathol 2010 Sep;41(9):1210-9. Epub 2010 Apr 10 doi: 10.1016/j.humpath.2010.01.014. PMID: 20382408
Clinical features and long term outcome of epilepsy in periventricular nodular heterotopia. Simple compared with plus forms.
d'Orsi G, Tinuper P, Bisulli F, Zaniboni A, Bernardi B, Rubboli G, Riva R, Michelucci R, Volpi L, Tassinari CA, Baruzzi A
J Neurol Neurosurg Psychiatry 2004 Jun;75(6):873-8. doi: 10.1136/jnnp.2003.024315. PMID: 15146004Free PMC Article
West syndrome: etiological and prognostic aspects.
Watanabe K
Brain Dev 1998 Jan;20(1):1-8. doi: 10.1016/s0387-7604(97)00085-5. PMID: 9533552
Malignant transformation of benign epithelial gastric polyps.
Orlowska J, Jarosz D, Pachlewski J, Butruk E
Am J Gastroenterol 1995 Dec;90(12):2152-9. PMID: 8540506

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