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White sponge nevus

MedGen UID:
328433
•Concept ID:
C1721005
•
Disease or Syndrome
Synonym: Hereditary mucosal leukokeratosis
SNOMED CT: White sponge nevus (389203001); White sponge nevus of mucosa (389203001); Familial white folded mucosal dysplasia (389203001); Hereditary oral keratosis (389203001); Hereditary leukokeratosis of mucosa (389203001); Hereditary white sponge nevus (389203001)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (Orphanet)
 
Monarch Initiative: MONDO:0015748
OMIM®: 193900
OMIM® Phenotypic series: PS193900
Orphanet: ORPHA171723

Definition

White sponge nevus (WSN) is a rare and autosomal dominant genetic disease in which the oral mucosa is white or greyish, thickened, folded, and spongy. The onset is early in life, and both sexes are affected equally. Other common sites include the tongue, floor of the mouth, and alveolar mucosa. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVWhite sponge nevus

Professional guidelines

PubMed

Genetic and developmental disorders of the oral mucosa: Epidemiology; molecular mechanisms; diagnostic criteria; management.
Pinna R, Cocco F, Campus G, Conti G, Milia E, Sardella A, Cagetti MG
Periodontol 2000 2019 Jun;80(1):12-27. doi: 10.1111/prd.12261. PMID: 31090139
White lesions in the oral cavity: clinical presentation, diagnosis, and treatment.
Jones KB, Jordan R
Semin Cutan Med Surg 2015 Dec;34(4):161-70. doi: 10.12788/j.sder.2015.0180. PMID: 26650693
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

Recent clinical studies

Etiology

Genetic and developmental disorders of the oral mucosa: Epidemiology; molecular mechanisms; diagnostic criteria; management.
Pinna R, Cocco F, Campus G, Conti G, Milia E, Sardella A, Cagetti MG
Periodontol 2000 2019 Jun;80(1):12-27. doi: 10.1111/prd.12261. PMID: 31090139
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
Arginine in the beginning of the 1A rod domain of the keratin 10 gene is the hot spot for the mutation in epidermolytic hyperkeratosis.
Yang JM, Nam K, Kim SW, Jung SY, Min HG, Yeo UC, Park KB, Lee JH, Suhr KB, Park JK, Lee ES
J Dermatol Sci 1999 Feb;19(2):126-33. doi: 10.1016/s0923-1811(98)00055-3. PMID: 10098704
Human keratin diseases: hereditary fragility of specific epithelial tissues.
Corden LD, McLean WH
Exp Dermatol 1996 Dec;5(6):297-307. doi: 10.1111/j.1600-0625.1996.tb00133.x. PMID: 9028791
Leukoedema: a review of the literature.
Martin JL
J Natl Med Assoc 1992 Nov;84(11):938-40. PMID: 1460680Free PMC Article

Diagnosis

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
White Sponge Nevus: Report of a Case and Review of the Literature.
Sobhan M, Alirezaei P, Farshchian M, Eshghi G, Ghasemi Basir HR, Khezrian L
Acta Med Iran 2017 Aug;55(8):533-535. PMID: 29034652
White lesions in the oral cavity: clinical presentation, diagnosis, and treatment.
Jones KB, Jordan R
Semin Cutan Med Surg 2015 Dec;34(4):161-70. doi: 10.12788/j.sder.2015.0180. PMID: 26650693
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
White sponge nevus: clinical suspicion and diagnosis.
Songu M, Adibelli H, Diniz G
Pediatr Dermatol 2012 Jul-Aug;29(4):495-7. Epub 2012 Feb 22 doi: 10.1111/j.1525-1470.2011.01414.x. PMID: 22352924

Therapy

Successful Treatment of White Sponge Nevus With Oral Doxycycline: A Case Report and Review of the Literature.
Amores-Martín E, Melé-Ninot G, Del Alcázar Viladomiu E, Fernández-Figueras MT
Actas Dermosifiliogr (Engl Ed) 2021 May;112(5):463-466. Epub 2020 Nov 18 doi: 10.1016/j.ad.2019.10.009. PMID: 33220312
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
Orthodontic therapy in a patient with white sponge nevus.
Quintella C, Janson G, Azevedo LR, Damante JH
Am J Orthod Dentofacial Orthop 2004 Apr;125(4):497-9. doi: 10.1016/j.ajodo.2003.07.003. PMID: 15067267
Expression of keratin 14 and 19 mRNA and protein in normal oral epithelia, hairy leukoplakia, tongue biting and white sponge nevus.
Su L, Morgan PR, Thomas JA, Lane EB
J Oral Pathol Med 1993 Apr;22(4):183-9. doi: 10.1111/j.1600-0714.1993.tb01054.x. PMID: 7686226
Oral squamous-cell carcinoma within a white-sponge nevus.
Downham TF Jr, Plezia RA
J Dermatol Surg Oncol 1978 Jun;4(6):470-2. doi: 10.1111/j.1524-4725.1978.tb00476.x. PMID: 659700

Prognosis

Normal variations of oral anatomy and common oral soft tissue lesions: evaluation and management.
Madani FM, Kuperstein AS
Med Clin North Am 2014 Nov;98(6):1281-98. Epub 2014 Sep 22 doi: 10.1016/j.mcna.2014.08.004. PMID: 25443677
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
Pseudo oral hairy leukoplakia in a renal allograft recipient.
Euvrard S, Kanitakis J, Pouteil-Noble C, Chardonnet Y, Touraine JL, Thivolet J
J Am Acad Dermatol 1994 Feb;30(2 Pt 2):300-3. doi: 10.1016/s0190-9622(94)70027-3. PMID: 8294586

Clinical prediction guides

White Sponge Nevus Caused by Keratin 4 Gene Mutation: A Case Report.
Qiao Y, Liu B, Bai R, Cai J, Peng Q
Genes (Basel) 2022 Nov 22;13(12) doi: 10.3390/genes13122184. PMID: 36553451Free PMC Article
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
Clinical features and molecular genetic analysis in a Turkish family with oral white sponge nevus.
Kürklü E, Öztürk Ş, Cassidy AJ, Ak G, Koray M, Çefle K, Palandüz Ş, Güllüoğlu MG, Tanyeri H, McLean WH
Med Oral Patol Oral Cir Bucal 2018 Mar 1;23(2):e144-e150. doi: 10.4317/medoral.21437. PMID: 29476668Free PMC Article
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
The molecular genetics of keratin disorders.
Smith F
Am J Clin Dermatol 2003;4(5):347-64. doi: 10.2165/00128071-200304050-00005. PMID: 12688839

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