White sponge nevus | |
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Other names | 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] |
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White sponge nevus has an autosomal dominant pattern of inheritance. | |
Specialty | Oral medicine ![]() |
White sponge nevus (WSN) is an autosomal dominant [4] condition of the oral mucosa (the mucous membrane lining of the mouth). It is caused by one or more mutations in 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 benign and usually requires no treatment. WSN can, however, predispose affected individuals to over-growth/imbalance of the oral microbiota, which may require antibiotic and/or antifungal treatment.
WSN presents most commonly in the mouth, as thickened, bilateral, symmetrical white plaques with a spongy, corrugated or velvety texture. Lesions are typically present on the buccal mucosa, but may also affect the labial mucosa, alveolar ridge, floor of the mouth, ventral surface of the tongue, lip vermillion 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] Being a genetic disorder, it is de-facto present at birth, but the condition may not be observed or diagnosed until childhood or later. [5] Apart from the appearance of the affected areas, there are usually no other signs or symptoms. [5]
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.[ citation needed ]
It is often mistaken for leukoplakia, therefore a positive diagnosis is important in order to eliminate serious/malignant pathologies. [9]
The ICD-10 lists WSN under "other congenital malformations of mouth". It could be classified as a skin condition, [10] or more precisely as a genodermatosis (a genetically determined skin disorder). [5]
There are no specific treatments for WSN, and once diagnosed, further medical attention may not be required. [11] However, the abnormal texture of mucosae (particularly the oral mucosae) is known to predispose some affected individuals to over-growth or imbalance of the normal oral flora (i.e. bacterial and fungal organisms normally present in the oral cavity). The extreme rarity of the condition (estimated at 1 in 200,000 people) means that clinical evaluation of treatment options is based on very small sample sizes, often a single patient. Some affected individuals rarely or never experience problematic symptoms, while others report sporadic/idiopathic thickening and spreading of the white plaques within their oral cavity. Across the primary literature there is clinical evidence to support topical or systemic antibiotic or antifungal treatment in cases where symptoms have flared-up. [12] [13]
Tietz syndrome, also called Tietz albinism-deafness syndrome or albinism and deafness of Tietz, is an autosomal dominant congenital disorder characterized by deafness and leucism. It is caused by a mutation in the microphthalmia-associated transcription factor (MITF) gene. Tietz syndrome was first described in 1963 by Walter Tietz (1927–2003) a German Physician working in California.
Oral candidiasis (Acute pseudomembranous candidiasis),which is also known as oral thrush, among other names, is candidiasis that occurs in the mouth. That is, oral candidiasis is a mycosis (yeast/fungal infection) of Candida species on the mucous membranes of the mouth.
Oral leukoplakia is a potentially malignant disorder affecting the oral mucosa. It is defined as "essentially an oral mucosal white lesion that cannot be considered as any other definable lesion." Oral leukoplakia is a white patch or plaque that develops in the oral cavity and is strongly associated with smoking. Leukoplakia is a firmly attached white patch on a mucous membrane which is associated with increased risk of cancer. The edges of the lesion are typically abrupt and the lesion changes with time. Advanced forms may develop red patches. There are generally no other symptoms. It usually occurs within the mouth, although sometimes mucosa in other parts of the gastrointestinal tract, urinary tract, or genitals may be affected.
Keratin, type I cytoskeletal 4 also known as cytokeratin-4 (CK-4) or keratin-4 (K4) is a protein that in humans is encoded by the KRT4 gene.
Erythroplakia is a clinical term to describe any erythematous (red) area on a mucous membrane, that cannot be attributed to any other pathology.
Geographic tongue, also known by several other terms, is a condition of the mucous membrane of the tongue, usually on the dorsal surface. It is a common condition, affecting approximately 2–3% of the general population. It is characterized by areas of smooth, red depapillation which migrate over time. The name comes from the map-like appearance of the tongue, with the patches resembling the islands of an archipelago. The cause is unknown, but the condition is entirely benign, and there is no curative treatment. Uncommonly, geographic tongue may cause a burning sensation on the tongue, for which various treatments have been described with little formal evidence of efficacy.
An oral medicine or stomatology doctor/dentist has received additional specialized training and experience in the diagnosis and management of oral mucosal abnormalities including oral cancer, salivary gland disorders, temporomandibular disorders and facial pain, taste and smell disorders; and recognition of the oral manifestations of systemic and infectious diseases. It lies at the interface between medicine and dentistry. An oral medicine doctor is trained to diagnose and manage patients with disorders of the orofacial region.
Autosomal recessive multiple epiphyseal dysplasia (ARMED), also called epiphyseal dysplasia, multiple, 4 (EDM4), multiple epiphyseal dysplasia with clubfoot or –with bilayered patellae, is an autosomal recessive congenital disorder affecting cartilage and bone development. The disorder has relatively mild signs and symptoms, including joint pain, scoliosis, and malformations of the hands, feet, and knees.
Stomatitis nicotina is a diffuse white patch on the hard palate, usually caused by tobacco smoking, usually pipe or cigar smoking. It is painless, and it is caused by a response of the palatal oral mucosa to chronic heat. A more pronounced appearance can occur with reverse smoking, sometimes distinguished from stomatitis nicotina by the term reverse smoker's stomatitis. While stomatitis nicotina that is caused by heat is not a premalignant condition, the condition that is caused by reverse smoking is premalignant.
Leukoedema is a blue, grey or white appearance of mucosae, particularly the buccal mucosa ; it may also occur on the mucosa of the larynx or vagina. It is a harmless and very common condition. Because it is so common, it has been argued that it may in fact represent a variation of the normal appearance rather than a disease, but empirical evidence suggests that leukoedema is an acquired condition caused by local irritation. It is found more commonly in black skinned people and tobacco users. The term is derived from the Greek words λευκός leukós, "white" and οἴδημα oídēma, "swelling".
Naegeli–Franceschetti–Jadassohn syndrome (NFJS), also known as chromatophore nevus of Naegeli and Naegeli syndrome, is a rare autosomal dominant form of ectodermal dysplasia, characterized by reticular skin pigmentation, diminished function of the sweat glands, the absence of teeth and hyperkeratosis of the palms and soles. One of the most striking features is the absence of fingerprint lines on the fingers.
Pachyonychia congenita is a rare group of autosomal dominant skin disorders that are caused by a mutation in one of five different keratin genes. Pachyonychia congenita is often associated with thickened toenails, plantar keratoderma, and plantar pain.
Oral and maxillofacial pathology refers to the diseases of the mouth, jaws and related structures such as salivary glands, temporomandibular joints, facial muscles and perioral skin. The mouth is an important organ with many different functions. It is also prone to a variety of medical and dental disorders.
Ichthyosis bullosa of Siemens is a type of familial, autosomal dominant ichthyosis, a rare skin disorder. It is also known as bullous congenital ichthyosiform erythroderma of Siemens or ichthyosis exfoliativa. It is a genetic disorder with no known cure which is estimated to affect about 1 in 500,000 people.
Ichthyosis hystrix is a group of rare skin disorders in the ichthyosis family of skin disorders characterized by massive hyperkeratosis with an appearance like spiny scales. This term is also used to refer to a type of epidermal nevi with extensive bilateral distribution.
Worth syndrome, also known as benign form of Worth hyperostosis corticalis generalisata with torus platinus, autosomal dominant osteosclerosis, autosomal dominant endosteal hyperostosis or Worth disease, is a rare autosomal dominant congenital disorder that is caused by a mutation in the LRP5 gene. It is characterized by increased bone density and benign bony structures on the palate.
Oral pigmentation is asymptomatic and does not usually cause any alteration to the texture or thickness of the affected area. The colour can be uniform or speckled and can appear solitary or as multiple lesions. Depending on the site, depth, and quantity of pigment, the appearance can vary considerably.
Parkes Weber syndrome (PWS) is a congenital disorder of the vascular system. It is an extremely rare condition, and its exact prevalence is unknown. It is named after British dermatologist Frederick Parkes Weber, who first described the syndrome in 1907.
Morsicatio buccarum is a condition characterized by chronic irritation or injury to the buccal mucosa, caused by repetitive chewing, biting, or nibbling.
Smokeless tobacco keratosis (STK) is a condition which develops on the oral mucosa in response to smokeless tobacco use. Generally it appears as a white patch, located at the point where the tobacco is held in the mouth. The condition usually disappears once the tobacco habit is stopped. It is associated with slightly increased risk of mouth cancer.
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