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Leukokeratosis

MedGen UID:
316451
•Concept ID:
C1704317
•
Disease or Syndrome
Synonym: Leukokeratoses
SNOMED CT: Leukokeratosis (9187004); Keratotic plaque (9187004); Leukokeratosis (773540001)

Definition

Leukoplakic lesions related to abnormal keratin fiber formation. [from MeSH]

Professional guidelines

PubMed

Phenotype and genotype features of Vietnamese children with pachyonychia congenita.
Chu HT, Dinh Duong TA, Le DH, Le TV, Nguyen BB, Dang CV, Vu QV
Pediatr Neonatol 2023 Jul;64(4):405-410. Epub 2023 Jan 3 doi: 10.1016/j.pedneo.2022.09.018. PMID: 36658016
Tylosis with oesophageal cancer: Diagnosis, management and molecular mechanisms.
Ellis A, Risk JM, Maruthappu T, Kelsell DP
Orphanet J Rare Dis 2015 Sep 29;10:126. doi: 10.1186/s13023-015-0346-2. PMID: 26419362Free PMC Article
Clinical classification and treatment of leukokeratosis of the vocal cords.
Ma LJ, Wang J, Xiao Y, Ye JY, Xu W, Yang QW
Chin Med J (Engl) 2013;126(18):3523-7. PMID: 24034102

Recent clinical studies

Etiology

Mutation of keratin 4 gene causing white sponge nevus in a Japanese family.
Kimura M, Nagao T, Machida J, Warnakulasuriya S
Int J Oral Maxillofac Surg 2013 May;42(5):615-8. Epub 2012 Nov 24 doi: 10.1016/j.ijom.2012.10.030. PMID: 23182699
White sponge nevus: presentation of a new family.
López Jornet P
Pediatr Dermatol 2008 Jan-Feb;25(1):116-7. doi: 10.1111/j.1525-1470.2007.00599.x. PMID: 18304171
White sponge nevus. A case report.
Maahs M, Cherubini K, Yurgel L, Salum F, Figueiredo MA
Minerva Stomatol 2007 Nov-Dec;56(11-12):649-53. PMID: 18091717
White sponge nevus: report of a three-generation family.
Martelli H Jr, Pereira SM, Rocha TM, Nogueira dos Santos PL, Batista de Paula AM, Bonan PR
Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2007 Jan;103(1):43-7. Epub 2006 Sep 1 doi: 10.1016/j.tripleo.2006.05.029. PMID: 17178493
Pachyonychia congenita.
Feinstein A, Friedman J, Schewach-Millet M
J Am Acad Dermatol 1988 Oct;19(4):705-11. doi: 10.1016/s0190-9622(88)70226-1. PMID: 3053803

Diagnosis

Chronic Oral Lesions.
Bukhari AF, Farag AM, Treister NS
Dermatol Clin 2020 Oct;38(4):451-466. Epub 2020 Aug 11 doi: 10.1016/j.det.2020.05.006. PMID: 32892854
Current approaches to the diagnosis and treatment of white sponge nevus.
Cai W, Jiang B, Yu F, Yang J, Chen Z, Liu J, Wei R, Zhao S, Wang X, Liu S
Expert Rev Mol Med 2015 May 29;17:e9. doi: 10.1017/erm.2015.7. PMID: 26021387
Pediatric soft tissue oral lesions.
Pinto A, Haberland CM, Baker S
Dent Clin North Am 2014 Apr;58(2):437-53. Epub 2014 Jan 31 doi: 10.1016/j.cden.2013.12.003. PMID: 24655531
Olmsted syndrome.
Fonseca E, Peña C, Del Pozo J, Almagro M, Yebra MT, Cuevas J, Contreras F
J Cutan Pathol 2001 May;28(5):271-5. doi: 10.1034/j.1600-0560.2001.028005271.x. PMID: 11401671
Pachyonychia congenita tarda.
Hannaford RS, Stapleton K
Australas J Dermatol 2000 Aug;41(3):175-7. doi: 10.1046/j.1440-0960.2000.00425.x. PMID: 10954990

Therapy

Chronic Oral Lesions.
Bukhari AF, Farag AM, Treister NS
Dermatol Clin 2020 Oct;38(4):451-466. Epub 2020 Aug 11 doi: 10.1016/j.det.2020.05.006. PMID: 32892854
Oral manifestations of pachyonychia congenita.
da Silva Santos PS, Mannarino F, Lellis RF, Osório LH
Dermatol Online J 2010 Oct 15;16(10):3. PMID: 21062597
Olmsted syndrome.
Ali ME, Sikdar AU, Akhtar N, Islam ZM
Mymensingh Med J 2007 Jan;16(1):100-3. doi: 10.3329/mmj.v16i1.262. PMID: 17344790
Pachyonychia congenita tarda.
Hannaford RS, Stapleton K
Australas J Dermatol 2000 Aug;41(3):175-7. doi: 10.1046/j.1440-0960.2000.00425.x. PMID: 10954990
Tinea pedis.
Leyden JJ, Aly R
Semin Dermatol 1993 Dec;12(4):280-4. PMID: 8312143

Prognosis

Tylosis with oesophageal cancer: Diagnosis, management and molecular mechanisms.
Ellis A, Risk JM, Maruthappu T, Kelsell DP
Orphanet J Rare Dis 2015 Sep 29;10:126. doi: 10.1186/s13023-015-0346-2. PMID: 26419362Free PMC Article
Oral infection by Staphylococcus aureus in patients affected by White Sponge Nevus: a description of two cases occurred in the same family.
Marrelli M, Tatullo M, Dipalma G, Inchingolo F
Int J Med Sci 2012;9(1):47-50. Epub 2011 Nov 18 doi: 10.7150/ijms.9.47. PMID: 22211089Free PMC Article
White sponge nevus: presentation of a new family.
López Jornet P
Pediatr Dermatol 2008 Jan-Feb;25(1):116-7. doi: 10.1111/j.1525-1470.2007.00599.x. PMID: 18304171
A novel mutation in the keratin 13 gene causing oral white sponge nevus.
Terrinoni A, Rugg EL, Lane EB, Melino G, Felix DH, Munro CS, McLean WH
J Dent Res 2001 Mar;80(3):919-23. doi: 10.1177/00220345010800031401. PMID: 11379896
Thrombocytopenia: first symptom in a patient with dyskeratosis congenita.
De Boeck K, Degreef H, Verwilghen R, Corbeel L, Casteels-Van Daele M
Pediatrics 1981 Jun;67(6):898-903. PMID: 6894487

Clinical prediction guides

Keratin 4 regulates the development of human white sponge nevus.
Zhang J, Quan J, Ren Y, Chen M, Yang J, Zhang X
J Oral Pathol Med 2018 Jul;47(6):598-605. Epub 2018 May 27 doi: 10.1111/jop.12728. PMID: 29738605
The expression profile of filaggrin-2 in the normal and pathologic human oral mucosa.
Makino T, Mizawa M, Inoue S, Noguchi M, Shimizu T
Arch Dermatol Res 2016 Apr;308(3):213-7. Epub 2016 Feb 8 doi: 10.1007/s00403-016-1627-x. PMID: 26858109
Olmsted syndrome.
Fonseca E, Peña C, Del Pozo J, Almagro M, Yebra MT, Cuevas J, Contreras F
J Cutan Pathol 2001 May;28(5):271-5. doi: 10.1034/j.1600-0560.2001.028005271.x. PMID: 11401671
Pachyonychia congenita associated with steatocystoma multiplex.
Kim JU, Nogita T, Terajima S, Kawashima M
J Dermatol 1998 Jul;25(7):479-81. doi: 10.1111/j.1346-8138.1998.tb02439.x. PMID: 9714984
Pachyonychia congenita: a clinical study of 12 cases and review of the literature.
Su WP, Chun SI, Hammond DE, Gordon H
Pediatr Dermatol 1990 Mar;7(1):33-8. doi: 10.1111/j.1525-1470.1990.tb01070.x. PMID: 2140447

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