White sponge nevus |
Classification and external resources |
ICD-10 |
Q38.6 (ILDS D10.310) |
ICD-9 |
750.26 |
OMIM |
193900 |
DiseasesDB |
33866 |
White sponge nevus (WSN, or white sponge naevus, Cannon's disease, hereditary leukokeratosis of mucosa, white sponge nevus of Cannon and familial white folded dysplasia),[1][2] is an autosomal dominant[3] condition of the oral mucosa (the mucous membrane lining of the mouth). It is caused by a mutations in certain genes coding for keratin, which causes a defect in the normal process of keratinization of the mucosa. This results in lesions which are thick, white and velvety on the inside of the cheeks within the mouth. Usually, these lesions are present from birth or develop during childhood. The condition is entirely harmless, and no treatment is required
Contents
- 1 Classification
- 2 Signs and symptoms
- 3 Pathophysiology
- 4 Diagnosis
- 5 Treatment and prognosis
- 6 Epidemiology
- 7 History
- 8 See also
- 9 References
- 10 External links
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Classification
The ICD-10 lists WSN under "other congenital malformations of mouth". It could be classified as a skin condition,[4] or more precisely as a genodermatosis (a genetically determined skin disorder).[5]
Signs and symptoms
It presents itself in the mouth, most frequently as a thick, bilateral, symmetrical white plaques with a spongy, corrugated or velvety texture. Most usually, the lesions are on the buccal mucosa, but sometimes on the labial mucosa, alveolar ridge, floor of the mouth, ventral surface of the tongue or soft palate. The gingival margin and dorsum of the tongue are almost never affected. Less commonly, sites outside the mouth are affected, including the nasal, esophageal, laryngeal, anal and genital mucosae.[5] It usually is present from birth, or develops during childhood. Rarely, the lesions may develop during adolescence. Apart from the appearance of the affected areas, there are usally no other signs or symptoms.[5]
Pathophysiology
White sponge nevus has an autosomal dominant pattern of inheritance.
WSN is caused by a mutation of the keratin 4 or keratin 13 genes,[3][6] located respectively at human chromosomes 12q13[7] and 17q21-q22.[8] The condition is inherited in an autosomal dominant manner.[3] This indicates that the defective gene responsible for a disorder is located on an autosome (chromosomes 12 and 17 are autosomes), and only one copy of the defective gene is sufficient to cause the disorder, when inherited from a parent who has the disorder.
Diagnosis
it is often mistaken for leukoplakia.
Treatment and prognosis
Although this condition is perfectly benign, There is no treatment, but because there are no serious clinical complications, the prognosis is excellent.
Epidemiology
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History
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See also
- Oral melanosis
- List of cutaneous conditions caused by mutations in keratins
References
- ^ Online 'Mendelian Inheritance in Man' (OMIM) 193900
- ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. pp. 709, 734, 738, 740. ISBN 1-4160-2999-0.
- ^ a b c Terrinoni A, Rugg EL, Lane EB, et al (Mar 2001). "A novel mutation in the keratin 13 gene causing oral white sponge nevus". J. Dent. Res. 80 (3): 919–923. doi:10.1177/00220345010800031401. PMID 11379896. http://jdr.sagepub.com/cgi/pmidlookup?view=long&pmid=11379896.
- ^ James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: Clinical Dermatology. Saunders Elsevier. p. 807. ISBN 0-7216-2921-0.
- ^ a b c Bouquot, Brad W. Neville , Douglas D. Damm, Carl M. Allen, Jerry E. (2002). Oral & maxillofacial pathology (2. ed. ed.). Philadelphia: W.B. Saunders. pp. 645–646. ISBN 0721690033.
- ^ McGowan KA, Fuchs H, Hrabé de Angelis M, Barsh GS (Jan 2007). "Identification of a Keratin 4 mutation in a chemically induced mouse mutant that models white sponge nevus". J. Invest. Dermatol. 127 (1): 60–64. doi:10.1038/sj.jid.5700498. PMID 16858417.
- ^ Online 'Mendelian Inheritance in Man' (OMIM) 123940
- ^ Online 'Mendelian Inheritance in Man' (OMIM) 148065
External links
- White sponge nevus of cannon; Leukokeratosis, hereditary mucosal at NIH's Office of Rare Diseases
Oral pathology: Stomatognathic disease (K06, K11–K14, 523, 527–529)
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Vestibule of mouth |
Lips
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Cheilitis (Angular, Actinic) · Herpes labialis · Plasma cell cheilitis · Cheilitis granulomatosa · Chapped lips
Cheilitis exfoliativa · Cheilitis glandularis · Allergic contact cheilitis
Drug-induced ulcer of the lip · Epidermization of the lip
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Buccal mucosa
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Morsicatio buccarum
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Oral cavity proper |
Hard, soft,
and periapical tissues
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gingival disease: Gingivitis (Desquamative gingivitis), Pericoronitis, Necrotizing ulcerative gingivitis, Noma, Epulis · Acute necrotizing ulcerative gingivitis
Periodontitis · Osteoradionecrosis
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Salivary glands |
Sialadenitis (Parotitis) · Benign lymphoepithelial lesion · Necrotizing sialometaplasia · Ranula · Sialolithiasis · Mucous cyst of the oral mucosa
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Tongue |
Glossitis (Geographic tongue) · Fissured tongue · burning mouth syndrome · Black hairy tongue · Strawberry tongue · Caviar tongue · Median rhomboid glossitis · Osseous choristoma of the tongue · Smooth tongue
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General |
Stomatitis: Aphthous ulcer · Gingivostomatitis
Velopharyngeal inadequacy
oral mucosa: Erythroplakia · Leukoplakia · Hairy leukoplakia · Leukoedema · Ulcer · White sponge nevus
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To be grouped
from derm |
Acquired dyskeratotic leukoplakia · Angina bullosa haemorrhagica · Behçet syndrome · Cutaneous sinus of dental origin · Cyclic neutropenia · Epulis fissuratum · Eruptive lingual papillitis · Melanocytic oral lesion · Melkersson–Rosenthal syndrome · Mucosal lichen planus · Oral Crohn's disease · Oral florid papillomatosis · Oral melanosis · Plasmoacanthoma · Proliferative verrucous leukoplakia · Pyogenic granuloma · Pyostomatitis vegetans · Recurrent intraoral herpes simplex infection · Stomatitis nicotina · Trumpeter's wart · Vestibular papillomatosis
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noco/cofa (c)/cogi/tumr, sysi
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Cytoskeletal defects
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Microfilaments |
Myofilament |
Actin |
- Hypertrophic cardiomyopathy 11
- Dilated cardiomyopathy 1AA
- DFNA20
- Nemaline myopathy 3
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Myosin |
- Elejalde syndrome
- Hypertrophic cardiomyopathy 1, 8, 10
- Usher syndrome 1B
- Freeman–Sheldon syndrome
- DFN A3, 4, 11, 17, 22; B2, 30, 37, 48
- May-Hegglin anomaly
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Troponin |
- Hypertrophic cardiomyopathy 7, 2
- Nemaline myopathy 4, 5
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Tropomyosin |
- Hypertrophic cardiomyopathy 3
- Nemaline myopathy 1
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Titin |
- Hypertrophic cardiomyopathy 9
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Other |
- Fibrillin
- Marfan syndrome
- Weill-Marchesani syndrome
- Filamin
- FG syndrome 2
- Boomerang dysplasia
- Larsen syndrome
- Terminal osseous dysplasia with pigmentary defects
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IF |
1/2 |
- Keratinopathy (keratosis, keratoderma, hyperkeratosis): KRT1
- Striate palmoplantar keratoderma 3
- Epidermolytic hyperkeratosis
- IHCM
- KRT2E (Ichthyosis bullosa of Siemens)
- KRT3 (Meesmann juvenile epithelial corneal dystrophy)
- KRT4 (White sponge nevus)
- KRT5 (Epidermolysis bullosa simplex)
- KRT8 (Familial cirrhosis)
- KRT10 (Epidermolytic hyperkeratosis)
- KRT12 (Meesmann juvenile epithelial corneal dystrophy)
- KRT13 (White sponge nevus)
- KRT14 (Epidermolysis bullosa simplex)
- KRT17 (Steatocystoma multiplex)
- KRT18 (Familial cirrhosis)
- KRT81/KRT83/KRT86 (Monilethrix)
- Naegeli–Franceschetti–Jadassohn syndrome
- Reticular pigmented anomaly of the flexures
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3 |
- Desmin: Desmin-related myofibrillar myopathy
- Dilated cardiomyopathy 1I
- Peripherin: Amyotrophic lateral sclerosis
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4 |
- Neurofilament: Parkinson's disease
- Charcot–Marie–Tooth disease 1F, 2E
- Amyotrophic lateral sclerosis
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5 |
- Laminopathy: LMNA
- Mandibuloacral dysplasia
- Dunnigan Familial partial lipodystrophy
- Emery-Dreifuss muscular dystrophy 2
- Limb-girdle muscular dystrophy 1B
- Charcot–Marie–Tooth disease 2B1
- LMNB
- Barraquer–Simons syndrome
- LEMD3
- Buschke–Ollendorff syndrome
- Osteopoikilosis
- LBR
- Pelger-Huet anomaly
- Hydrops-ectopic calcification-moth-eaten skeletal dysplasia
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Microtubules |
Kinesin |
- Charcot–Marie–Tooth disease 2A
- Hereditary spastic paraplegia 10
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Dynein |
- Primary ciliary dyskinesia
- Short rib-polydactyly syndrome 3
- Asphyxiating thoracic dysplasia 3
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Other |
- Tauopathy
- Cavernous venous malformation
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Membrane |
- Spectrin: Spinocerebellar ataxia 5
- Hereditary spherocytosis 2, 3
- Hereditary elliptocytosis 2, 3
Ankyrin: Long QT syndrome 4
- Hereditary spherocytosis 1
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Catenin |
- APC
- Gardner's syndrome
- Familial adenomatous polyposis
- plakoglobin (Naxos syndrome)
- GAN (Giant axonal neuropathy)
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Other |
- desmoplakin: Striate palmoplantar keratoderma 2
- Carvajal syndrome
- Arrhythmogenic right ventricular dysplasia 8
- plectin: Epidermolysis bullosa simplex with muscular dystrophy
- Epidermolysis bullosa simplex of Ogna
- plakophilin: Skin fragility syndrome
- Arrhythmogenic right ventricular dysplasia 9
- centrosome: PCNT (Microcephalic osteodysplastic primordial dwarfism type II)
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See also: cytoskeletal proteins
- B structural
- perx
- skel
- cili
- mito
- nucl
- sclr
- DNA/RNA/protein synthesis
- membrane
- transduction
- trfk
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