Pathology Outlines White sponge naevus

Pathology Outlines White sponge naevus

White sponge nevus

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White sponge nevus
Autosomal dominant - en.svg
White sponge nevus has an autosomal dominant pattern of inheritance.
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White sponge nevus (WSN, or white sponge naevus, Cannon’s disease, hereditary leukokeratosis of mucosa, white sponge nevus of Cannon, familial white folded dysplasia, [1] [2] or oral epithelial nevus), [3] is an autosomal dominant [4] 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 Signs and symptoms
  • 2 Pathophysiology
  • 3 Diagnosis
    • 3.1 Classification
  • 4 Treatment and prognosis
  • 5 See also
  • 6 References
  • 7 External links

Signs and symptoms[ edit ]

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 usually no other signs or symptoms. [5]

Pathophysiology[ edit ]

WSN is caused by a mutation of the keratin 4 or keratin 13 genes, [4] [6] located respectively at human chromosomes 12q13 [7] and 17q21-q22 . [8] The condition is inherited in an autosomal dominant manner. [4] 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[ edit ]

it is often mistaken for leukoplakia .

Classification[ edit ]

The ICD-10 lists WSN under “other congenital malformations of mouth”. It could be classified as a skin condition , [9] or more precisely as a genodermatosis (a genetically determined skin disorder). [5]

Treatment and prognosis[ edit ]

There is no treatment, but because this is a benign condition with no serious clinical complications, prognosis is excellent.

See also[ edit ]

  • Oral melanosis
  • List of cutaneous conditions caused by mutations in keratins
  • Hereditary benign intraepithelial dyskeratosis

References[ edit ]

  1. ^ Online Mendelian Inheritance in Man (OMIM) 193900
  2. ^ 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 .

  3. ^ Soames, JV; Southam, J.C. (1999). Oral pathology (3rd ed.). Oxford [u.a.]: Oxford Univ. Press. p. 141. ISBN   0192628941 .
  4. ^ 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 .
  5. ^ a b c Bouquot, Brad W. Neville, Douglas D. Damm, Carl M. Allen, Jerry E. (2002). Oral & maxillofacial pathology (2. ed.). Philadelphia: W.B. Saunders. pp. 645–646. ISBN   0721690033 .
  6. ^ 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 .
  7. ^ Online Mendelian Inheritance in Man (OMIM) 123940
  8. ^ Online Mendelian Inheritance in Man (OMIM) 148065
  9. ^ 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 .

External links[ edit ]

Classification
D
  • ICD – 10 : Q38.6 ( ILDS D10.310)
  • ICD – 9-CM : 750.26
  • OMIM : 193900
  • DiseasesDB : 33866
  • White sponge nevus of cannon; Leukokeratosis, hereditary mucosal at NIH ‘s Office of Rare Diseases
  • v
  • t
  • e
Oral and maxillofacial pathology ( K00–K06, K11–K14 , 520–525, 527–529 )
Lips
  • Cheilitis
    • Actinic
    • Angular
    • Plasma cell
  • Cleft lip
  • Congenital lip pit
  • Eclabium
  • Herpes labialis
  • Macrocheilia
  • Microcheilia
  • Nasolabial cyst
  • Sun poisoning
  • Trumpeter’s wart
Tongue
  • Ankyloglossia
  • Black hairy tongue
  • Caviar tongue
  • Crenated tongue
  • Cunnilingus tongue
  • Fissured tongue
  • Foliate papillitis
  • Glossitis
    • Geographic tongue
    • Median rhomboid glossitis
    • Transient lingual papillitis
  • Glossoptosis
  • Hypoglossia
  • Lingual thyroid
  • Macroglossia
  • Microglossia
  • Rhabdomyoma
Palate
  • Bednar’s aphthae
  • Cleft palate
  • High-arched palate
  • Palatal cysts of the newborn
  • Inflammatory papillary hyperplasia
  • Stomatitis nicotina
  • Torus palatinus
Oral mucosa – Lining of mouth
  • Amalgam tattoo
  • Angina bullosa haemorrhagica
  • Behçet’s disease
  • Bohn’s nodules
  • Burning mouth syndrome
  • Candidiasis
  • Condyloma acuminatum
  • Darier’s disease
  • Epulis fissuratum
  • Erythema multiforme
  • Erythroplakia
  • Fibroma
    • Giant-cell
  • Focal epithelial hyperplasia
  • Fordyce spots
  • Hairy leukoplakia
  • Hand, foot and mouth disease
  • Hereditary benign intraepithelial dyskeratosis
  • Herpangina
  • Herpes zoster
  • Intraoral dental sinus
  • Leukoedema
  • Leukoplakia
  • Lichen planus
  • Linea alba
  • Lupus erythematosus
  • Melanocytic nevus
  • Melanocytic oral lesion
  • Molluscum contagiosum
  • Morsicatio buccarum
  • Oral cancer
    • Benign: Squamous cell papilloma
    • Keratoacanthoma
    • Malignant: Adenosquamous carcinoma
    • Basaloid squamous carcinoma
    • Mucosal melanoma
    • Spindle cell carcinoma
    • Squamous cell carcinoma
    • Verrucous carcinoma
  • Oral florid papillomatosis
  • Oral melanosis
    • Smoker’s melanosis
  • Pemphigoid
    • Benign mucous membrane
  • Pemphigus
  • Plasmoacanthoma
  • Stomatitis
    • Aphthous
    • Denture-related
    • Herpetic
  • Smokeless tobacco keratosis
  • Submucous fibrosis
  • Ulceration
    • Riga–Fede disease
  • Verruca vulgaris
  • Verruciform xanthoma
  • White sponge nevus
Teeth ( pulp , dentin , enamel )
  • Amelogenesis imperfecta
  • Ankylosis
  • Anodontia
  • Caries
    • Early childhood caries
  • Concrescence
  • Failure of eruption of teeth
  • Dens evaginatus
    • Talon cusp
  • Dentin dysplasia
  • Dentin hypersensitivity
  • Dentinogenesis imperfecta
  • Dilaceration
  • Discoloration
  • Ectopic enamel
  • Enamel hypocalcification
  • Enamel hypoplasia
    • Turner’s hypoplasia
  • Enamel pearl
  • Fluorosis
  • Fusion
  • Gemination
  • Hyperdontia
  • Hypodontia
    • Maxillary lateral incisor agenesis
  • Impaction
    • Wisdom tooth impaction
  • Macrodontia
  • Meth mouth
  • Microdontia
  • Odontogenic tumors
    • Keratocystic odontogenic tumour
  • Odontoma
    • Dens in dente
  • Open contact
  • Premature eruption
    • Neonatal teeth
  • Pulp calcification
    • Pulp stone
  • Pulp canal obliteration
  • Pulp necrosis
  • Pulp polyp
  • Pulpitis
  • Regional odontodysplasia
  • Resorption
  • Shovel-shaped incisors
  • Supernumerary root
  • Taurodontism
  • Trauma
    • Avulsion
    • Cracked tooth syndrome
    • Vertical root fracture
    • Occlusal
  • Tooth loss
    • Edentulism
  • Tooth wear
    • Abrasion
    • Abfraction
    • Acid erosion
    • Attrition
Periodontium ( gingiva , periodontal ligament , cementum , alveolus ) – Gums and tooth-supporting structures
  • Cementicle
  • Cementoblastoma
    • Gigantiform
  • Cementoma
  • Eruption cyst
  • Epulis
    • Pyogenic granuloma
    • Congenital epulis
  • Gingival enlargement
  • Gingival cyst of the adult
  • Gingival cyst of the newborn
  • Gingivitis
    • Desquamative
    • Granulomatous
    • Plasma cell
  • Hereditary gingival fibromatosis
  • Hypercementosis
  • Hypocementosis
  • Linear gingival erythema
  • Necrotizing periodontal diseases
    • Acute necrotizing ulcerative gingivitis
  • Pericoronitis
  • Peri-implantitis
  • Periodontal abscess
  • Periodontal trauma
  • Periodontitis
    • Aggressive
    • As a manifestation of systemic disease
    • Chronic
  • Perio-endo lesion
  • Teething
Periapical, mandibular and maxillary hard tissues – Bones of jaws
  • Agnathia
  • Alveolar osteitis
  • Buccal exostosis
  • Cherubism
  • Idiopathic osteosclerosis
  • Mandibular fracture
  • Microgenia
  • Micrognathia
  • Intraosseous cysts
    • Odontogenic : periapical
    • Dentigerous
    • Buccal bifurcation
    • Lateral periodontal
    • Globulomaxillary
    • Calcifying odontogenic
    • Glandular odontogenic
    • Non-odontogenic: Nasopalatine duct
    • Median mandibular
    • Median palatal
    • Traumatic bone
  • Osteoma
  • Osteomyelitis
  • Osteonecrosis
    • Bisphosphonate-associated
    • Neuralgia-inducing cavitational osteonecrosis
    • Osteoradionecrosis
  • Osteoporotic bone marrow defect
  • Paget’s disease of bone
  • Periapical abscess
    • Phoenix abscess
  • Periapical periodontitis
  • Stafne defect
  • Torus mandibularis
Temporomandibular joints , muscles of mastication and malocclusions – Jaw joints, chewing muscles and bite abnormalities
  • Bruxism
  • Condylar resorption
  • Mandibular dislocation
  • Malocclusion
    • Crossbite
    • Open bite
    • Overbite
    • Overeruption
    • Overjet
    • Prognathia
    • Retrognathia
    • Scissor bite
  • Maxillary hypoplasia
  • Temporomandibular joint dysfunction
Salivary glands
  • Benign lymphoepithelial lesion
  • Ectopic salivary gland tissue
  • Frey’s syndrome
  • HIV salivary gland disease
  • Necrotizing sialometaplasia
  • Mucocele
    • Ranula
  • Pneumoparotitis
  • Salivary duct stricture
  • Salivary gland aplasia
  • Salivary gland atresia
  • Salivary gland diverticulum
  • Salivary gland fistula
  • Salivary gland hyperplasia
  • Salivary gland hypoplasia
  • Salivary gland neoplasms
    • Benign: Basal cell adenoma
    • Canalicular adenoma
    • Ductal papilloma
    • Monomorphic adenoma
    • Myoepithelioma
    • Oncocytoma
    • Papillary cystadenoma lymphomatosum
    • Pleomorphic adenoma
    • Sebaceous adenoma
    • Malignant: Acinic cell carcinoma
    • Adenocarcinoma
    • Adenoid cystic carcinoma
    • Carcinoma ex pleomorphic adenoma
    • Lymphoma
    • Mucoepidermoid carcinoma
  • Sclerosing polycystic adenosis
  • Sialadenitis
    • Parotitis
    • Chronic sclerosing sialadenitis
  • Sialectasis
  • Sialocele
  • Sialodochitis
  • Sialosis
  • Sialolithiasis
  • Sjögren’s syndrome
Orofacial soft tissues – Soft tissues around the mouth
  • Actinomycosis
  • Angioedema
  • Basal cell carcinoma
  • Cutaneous sinus of dental origin
  • Cystic hygroma
  • Gnathophyma
  • Ludwig’s angina
  • Macrostomia
  • Melkersson–Rosenthal syndrome
  • Microstomia
  • Noma
  • Oral Crohn’s disease
  • Orofacial granulomatosis
  • Perioral dermatitis
  • Pyostomatitis vegetans
Other
  • Eagle syndrome
  • Hemifacial hypertrophy
  • Facial hemiatrophy
  • Oral manifestations of systemic disease
  • v
  • t
  • e
Cytoskeletal defects
Microfilaments
Myofilament
Actin
  • Hypertrophic cardiomyopathy 11
  • Dilated cardiomyopathy 1AA
  • DFNA20
  • Nemaline myopathy 3
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
Troponin
  • Hypertrophic cardiomyopathy 7, 2
  • Nemaline myopathy 4, 5
Tropomyosin
  • Hypertrophic cardiomyopathy 3
  • Nemaline myopathy 1
Titin
  • Hypertrophic cardiomyopathy 9
Other
  • Fibrillin
    • Marfan syndrome
    • Weill–Marchesani syndrome
  • Filamin
    • FG syndrome 2
    • Boomerang dysplasia
    • Larsen syndrome
    • Terminal osseous dysplasia with pigmentary defects
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
3
  • Desmin : Desmin-related myofibrillar myopathy
  • Dilated cardiomyopathy 1I
  • GFAP : Alexander disease
  • Peripherin : Amyotrophic lateral sclerosis
4
  • Neurofilament : Parkinson’s disease
  • Charcot–Marie–Tooth disease 1F, 2E
  • Amyotrophic lateral sclerosis
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
Microtubules
Kinesin
  • Charcot–Marie–Tooth disease 2A
  • Hereditary spastic paraplegia 10
Dynein
  • Primary ciliary dyskinesia
  • Short rib-polydactyly syndrome 3
  • Asphyxiating thoracic dysplasia 3
Other
  • Tauopathy
  • Cavernous venous malformation
Membrane
  • Spectrin : Spinocerebellar ataxia 5
  • Hereditary spherocytosis 2, 3
  • Hereditary elliptocytosis 2, 3

Ankyrin : Long QT syndrome 4

  • Hereditary spherocytosis 1
Catenin
  • APC
    • Gardner’s syndrome
    • Familial adenomatous polyposis
  • plakoglobin ( Naxos syndrome )
  • GAN ( Giant axonal neuropathy )
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 )
See also: cytoskeletal proteins

Retrieved from ” https://en.wikipedia.org/w/index.php?title=White_sponge_nevus&oldid=826855975 ”
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  • Oral neoplasia
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