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White sponge nevus 1(WSN1)

MedGen UID:
860363
Concept ID:
C4011926
Disease or Syndrome
Synonyms: Leukokeratosis, Hereditary Mucosal; White sponge nevus of cannon; White Sponge Nevus of Cannon, KRT13-Related; White Sponge Nevus of Cannon, KRT4-Related
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM
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.
 
Gene (location): KRT4 (12q13.13)
 
Monarch Initiative: MONDO:0008676
OMIM®: 193900

Definition

White sponge nevus is a rare autosomal dominant disorder of noncornifying squamous epithelial differentiation that presents clinically as white, soft, thick plaques of the oral mucosa. Less frequently, the mucous membranes of the nose, esophagus, genitalia, and rectum are involved. Histopathologic features, including epithelial thickening, parakeratosis, extensive vacuolization of the suprabasal keratinocytes, and compact aggregates of keratin intermediate filaments in the upper spinus layers resemble those found in epidermal disorders shown to be associated with keratin defects (summary by Richard et al., 1995). Genetic Heterogeneity of White Sponge Nevus White sponge nevus-2 (WSN2; 615785) is caused by mutation in the KRT13 gene (148065) on chromosome 17q21. [from OMIM]

Additional description

From MedlinePlus Genetics
White sponge nevus is a condition characterized by the formation of white patches of tissue called nevi (singular: nevus) that appear as thickened, velvety, sponge-like tissue. The nevi are most commonly found on the moist lining of the mouth (oral mucosa), especially on the inside of the cheeks (buccal mucosa). Affected individuals usually develop multiple nevi. Rarely, white sponge nevi also occur on the mucosae (singular: mucosa) of the nose, esophagus, genitals, or anus. The nevi are caused by a noncancerous (benign) overgrowth of cells.\n\nWhite sponge nevus can be present from birth but usually first appears during early childhood. The size and location of the nevi can change over time. In the oral mucosa, both sides of the mouth are usually affected. The nevi are generally painless, but the folds of extra tissue can promote bacterial growth, which can lead to infection that may cause discomfort. The altered texture and appearance of the affected tissue, especially the oral mucosa, can be bothersome for some affected individuals.  https://medlineplus.gov/genetics/condition/white-sponge-nevus

Clinical features

From HPO
Abnormality of metabolism/homeostasis
MedGen UID:
867398
Concept ID:
C4021768
Finding
Oral mucosa leukoplakia
MedGen UID:
9738
Concept ID:
C0023532
Neoplastic Process
A white patch or plaque on the oral mucosa that cannot be characterized clinically or pathologically as any other disease. The diagnosis of leukoplakia is one of exclusion; other conditions such as candidiasis, lichen planus, leukoedema, etc., must be ruled out before a diagnosis of leukoplakia can be made. Leukoplakia may be a premalignant condition.
Abnormal conjunctiva morphology
MedGen UID:
871353
Concept ID:
C4025847
Anatomical Abnormality
An abnormality of the conjunctiva.

Recent clinical studies

Etiology

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
López Jornet P
Pediatr Dermatol 2008 Jan-Feb;25(1):116-7. doi: 10.1111/j.1525-1470.2007.00599.x. PMID: 18304171
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
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
Corden LD, McLean WH
Exp Dermatol 1996 Dec;5(6):297-307. doi: 10.1111/j.1600-0625.1996.tb00133.x. PMID: 9028791

Diagnosis

Bezerra KT, Leite TC, Roza ALOC, Araújo R, Israel MS, Canedo NHS, Agostini M, Benevenuto de Andrade BA, Romañach MJ
J Cutan Pathol 2020 Jan;47(1):22-26. Epub 2019 Oct 7 doi: 10.1111/cup.13581. PMID: 31568560
Schwartz Z, Magro C, Nuovo G
Ann Diagn Pathol 2019 Dec;43:151402. Epub 2019 Aug 22 doi: 10.1016/j.anndiagpath.2019.151402. PMID: 31473371
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
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
Legler A, Thomas T, Zlotoff B
Pediatr Dermatol 2010 Jan-Feb;27(1):100-1. doi: 10.1111/j.1525-1470.2009.01046.x. PMID: 20199427

Therapy

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
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
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
Alinovi A, Benoldi D, Pezzarossa E
Acta Derm Venereol 1983;63(1):83-5. PMID: 6191502

Prognosis

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
López Jornet P
Pediatr Dermatol 2008 Jan-Feb;25(1):116-7. doi: 10.1111/j.1525-1470.2007.00599.x. PMID: 18304171
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

Clinical prediction guides

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
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
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
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
McGininis JP Jr, Turner JE
Oral Surg Oral Med Oral Pathol 1975 Nov;40(5):644-51. doi: 10.1016/0030-4220(75)90374-6. PMID: 52856

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