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Dyskeratosis

MedGen UID:
90742
•Concept ID:
C0334061
•
Pathologic Function
SNOMED CT: Dyskeratosis (2097009)

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDyskeratosis

Professional guidelines

PubMed

The biology and management of dyskeratosis congenita and related disorders of telomeres.
Tummala H, Walne A, Dokal I
Expert Rev Hematol 2022 Aug;15(8):685-696. Epub 2022 Aug 8 doi: 10.1080/17474086.2022.2108784. PMID: 35929966
Therapeutic Options for the Treatment of Darier's Disease: A Comprehensive Review of the Literature.
Hanna N, Lam M, Fleming P, Lynde CW
J Cutan Med Surg 2022 May-Jun;26(3):280-290. Epub 2021 Nov 28 doi: 10.1177/12034754211058405. PMID: 34841914Free PMC Article
Treatment of telomeropathies.
Vieri M, Brümmendorf TH, Beier F
Best Pract Res Clin Haematol 2021 Jun;34(2):101282. Epub 2021 Jul 1 doi: 10.1016/j.beha.2021.101282. PMID: 34404536

Recent clinical studies

Etiology

Dyskeratosis congenita and telomere biology disorders.
Savage SA
Hematology Am Soc Hematol Educ Program 2022 Dec 9;2022(1):637-648. doi: 10.1182/hematology.2022000394. PMID: 36485133Free PMC Article
Inherited bone marrow failure in the pediatric patient.
Dokal I, Tummala H, Vulliamy T
Blood 2022 Aug 11;140(6):556-570. doi: 10.1182/blood.2020006481. PMID: 35605178Free PMC Article
Oral potentially malignant disorders: A consensus report from an international seminar on nomenclature and classification, convened by the WHO Collaborating Centre for Oral Cancer.
Warnakulasuriya S, Kujan O, Aguirre-Urizar JM, Bagan JV, González-Moles MÁ, Kerr AR, Lodi G, Mello FW, Monteiro L, Ogden GR, Sloan P, Johnson NW
Oral Dis 2021 Nov;27(8):1862-1880. Epub 2020 Nov 26 doi: 10.1111/odi.13704. PMID: 33128420
Dyskeratosis congenita: a literature review.
AlSabbagh MM
J Dtsch Dermatol Ges 2020 Sep;18(9):943-967. Epub 2020 Sep 15 doi: 10.1111/ddg.14268. PMID: 32930426
Clinical features and presentation of oral potentially malignant disorders.
Warnakulasuriya S
Oral Surg Oral Med Oral Pathol Oral Radiol 2018 Jun;125(6):582-590. Epub 2018 Apr 4 doi: 10.1016/j.oooo.2018.03.011. PMID: 29673799

Diagnosis

Inherited bone marrow failure in the pediatric patient.
Dokal I, Tummala H, Vulliamy T
Blood 2022 Aug 11;140(6):556-570. doi: 10.1182/blood.2020006481. PMID: 35605178Free PMC Article
Dyskeratosis congenita: a literature review.
AlSabbagh MM
J Dtsch Dermatol Ges 2020 Sep;18(9):943-967. Epub 2020 Sep 15 doi: 10.1111/ddg.14268. PMID: 32930426
Frictional Keratosis, Contact Keratosis and Smokeless Tobacco Keratosis: Features of Reactive White Lesions of the Oral Mucosa.
Müller S
Head Neck Pathol 2019 Mar;13(1):16-24. Epub 2019 Jan 22 doi: 10.1007/s12105-018-0986-3. PMID: 30671762Free PMC Article
Clinical features and presentation of oral potentially malignant disorders.
Warnakulasuriya S
Oral Surg Oral Med Oral Pathol Oral Radiol 2018 Jun;125(6):582-590. Epub 2018 Apr 4 doi: 10.1016/j.oooo.2018.03.011. PMID: 29673799
Nomenclature and classification of potentially malignant disorders of the oral mucosa.
Warnakulasuriya S, Johnson NW, van der Waal I
J Oral Pathol Med 2007 Nov;36(10):575-80. doi: 10.1111/j.1600-0714.2007.00582.x. PMID: 17944749

Therapy

Therapeutic Options for the Treatment of Darier's Disease: A Comprehensive Review of the Literature.
Hanna N, Lam M, Fleming P, Lynde CW
J Cutan Med Surg 2022 May-Jun;26(3):280-290. Epub 2021 Nov 28 doi: 10.1177/12034754211058405. PMID: 34841914Free PMC Article
Dyskeratosis Congenita.
Stoopler ET, Shanti RM
Mayo Clin Proc 2019 Sep;94(9):1668-1669. doi: 10.1016/j.mayocp.2019.04.032. PMID: 31486376
Frictional Keratosis, Contact Keratosis and Smokeless Tobacco Keratosis: Features of Reactive White Lesions of the Oral Mucosa.
Müller S
Head Neck Pathol 2019 Mar;13(1):16-24. Epub 2019 Jan 22 doi: 10.1007/s12105-018-0986-3. PMID: 30671762Free PMC Article
Clinical features and presentation of oral potentially malignant disorders.
Warnakulasuriya S
Oral Surg Oral Med Oral Pathol Oral Radiol 2018 Jun;125(6):582-590. Epub 2018 Apr 4 doi: 10.1016/j.oooo.2018.03.011. PMID: 29673799
Dyskeratosis congenita.
Gupta V, Kumar A
Adv Exp Med Biol 2010;685:215-9. doi: 10.1007/978-1-4419-6448-9_20. PMID: 20687509

Prognosis

Abnormal p53 Immunohistochemical Patterns Shed Light on the Aggressiveness of Oral Epithelial Dysplasia.
Novack R, Zhang L, Hoang LN, Kadhim M, Ng TL, Poh CF, Kevin Ko YC
Mod Pathol 2023 Jul;36(7):100153. Epub 2023 Mar 9 doi: 10.1016/j.modpat.2023.100153. PMID: 36906072
Revesz syndrome revisited.
Karremann M, Neumaier-Probst E, Schlichtenbrede F, Beier F, Brümmendorf TH, Cremer FW, Bader P, Dürken M
Orphanet J Rare Dis 2020 Oct 23;15(1):299. doi: 10.1186/s13023-020-01553-y. PMID: 33097095Free PMC Article
Dyskeratosis Congenita.
Stoopler ET, Shanti RM
Mayo Clin Proc 2019 Sep;94(9):1668-1669. doi: 10.1016/j.mayocp.2019.04.032. PMID: 31486376
Clinical features and presentation of oral potentially malignant disorders.
Warnakulasuriya S
Oral Surg Oral Med Oral Pathol Oral Radiol 2018 Jun;125(6):582-590. Epub 2018 Apr 4 doi: 10.1016/j.oooo.2018.03.011. PMID: 29673799
Updated review of genetic reticulate pigmentary disorders.
Zhang J, Li M, Yao Z
Br J Dermatol 2017 Oct;177(4):945-959. Epub 2017 Sep 27 doi: 10.1111/bjd.15575. PMID: 28407215

Clinical prediction guides

Abnormal p53 Immunohistochemical Patterns Shed Light on the Aggressiveness of Oral Epithelial Dysplasia.
Novack R, Zhang L, Hoang LN, Kadhim M, Ng TL, Poh CF, Kevin Ko YC
Mod Pathol 2023 Jul;36(7):100153. Epub 2023 Mar 9 doi: 10.1016/j.modpat.2023.100153. PMID: 36906072
Treatment of telomeropathies.
Vieri M, Brümmendorf TH, Beier F
Best Pract Res Clin Haematol 2021 Jun;34(2):101282. Epub 2021 Jul 1 doi: 10.1016/j.beha.2021.101282. PMID: 34404536
Telomere-driven diseases and telomere-targeting therapies.
Martínez P, Blasco MA
J Cell Biol 2017 Apr 3;216(4):875-887. Epub 2017 Mar 2 doi: 10.1083/jcb.201610111. PMID: 28254828Free PMC Article
Actinic keratosis and squamous cell carcinoma: clinical and pathological features.
Filosa A, Filosa G
G Ital Dermatol Venereol 2015 Aug;150(4):379-84. Epub 2015 Jun 23 PMID: 26099352
Dyskeratosis congenita.
Vulliamy T, Dokal I
Semin Hematol 2006 Jul;43(3):157-66. doi: 10.1053/j.seminhematol.2006.04.001. PMID: 16822458

Recent systematic reviews

Systemic conditions associated with increased risk to develop oral squamous cell carcinoma: Systematic review and meta-analysis.
Dos Santos ES, Pérez-de-Oliveira ME, Normando AGC, Gueiros LAM, Rogatto SR, Vargas PA, Lopes MA, da Silva Guerra EN, Leme AFP, Santos-Silva AR
Head Neck 2022 Dec;44(12):2925-2937. Epub 2022 Sep 16 doi: 10.1002/hed.27193. PMID: 36114663
Dyskeratosis Congenita and Squamous Cell Cancer of the Head and Neck: A Case Report and Systematic Review.
Liu AQ, Deane EC, Prisman E, Durham JS
Ann Otol Rhinol Laryngol 2022 Sep;131(9):1036-1042. Epub 2021 Oct 15 doi: 10.1177/00034894211047470. PMID: 34651516Free PMC Article
Allogeneic hematopoietic stem cell transplantation for dyskeratosis congenita.
Elmahadi S, Muramatsu H, Kojima S
Curr Opin Hematol 2016 Nov;23(6):501-507. doi: 10.1097/MOH.0000000000000290. PMID: 27607446
Survival after Hematopoietic Stem Cell Transplant in Patients with Dyskeratosis Congenita: Systematic Review of the Literature.
Barbaro P, Vedi A
Biol Blood Marrow Transplant 2016 Jul;22(7):1152-1158. Epub 2016 Mar 8 doi: 10.1016/j.bbmt.2016.03.001. PMID: 26968789
Histopathologic characterization of epidermolytic hyperkeratosis: a systematic review of histology from the National Registry for Ichthyosis and Related Skin Disorders.
Ross R, DiGiovanna JJ, Capaldi L, Argenyi Z, Fleckman P, Robinson-Bostom L
J Am Acad Dermatol 2008 Jul;59(1):86-90. doi: 10.1016/j.jaad.2008.02.031. PMID: 18571597Free PMC Article

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