Epidermal nevus
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An epidermal nevus (plural: nevi) is an abnormal, noncancerous (benign) patch of skin caused by an overgrowth of cells in the outermost layer of skin (epidermis). Epidermal nevi are typically seen at birth or develop in early childhood. Affected individuals have one or more nevi that vary in size.
Descrizione
An epidermal nevus (plural: nevi) is an abnormal, noncancerous (benign) patch of skin caused by an overgrowth of cells in the outermost layer of skin (epidermis). Epidermal nevi are typically seen at birth or develop in early childhood. Affected individuals have one or more nevi that vary in size.
There are several types of epidermal nevus that are defined in part by the type of epidermal cell involved. The epidermis is composed primarily of a specific cell type called a keratinocyte. One group of epidermal nevi, called keratinocytic or nonorganoid epidermal nevi, includes nevi that involve only keratinocytes. Keratinocytic epidermal nevi are typically found on the torso or limbs. They can be flat, tan or brown patches of skin or raised, velvety patches. As affected individuals age, the nevi can become thicker and darker and develop a wart-like (verrucous) appearance. Often, keratinocytic epidermal nevi follow a pattern on the skin known as the lines of Blaschko. The lines of Blaschko, which are normally invisible on skin, are thought to follow the paths along which cells migrate as the skin develops before birth. Keratinocytic epidermal nevi are also known as linear epidermal nevi or verrucous epidermal nevi, based on characteristics of their appearance.
Other types of epidermal nevi involve additional types of epidermal cells, such as the cells that make up the hair follicles, the sweat glands, or the sebaceous glands (glands in the skin that produce a substance that protects the skin and hair). These nevi comprise a group called organoid epidermal nevi. A common type of organoid epidermal nevus is called nevus sebaceous. Nevi in this group are waxy, yellow-orange patches of skin, usually on the scalp or face. The patch is typically hairless, leaving a distinct region of baldness (alopecia). Similar to keratinocytic epidermal nevi, nevi sebaceous can become thicker and more verrucous over time. In about one-quarter of people with a nevus sebaceous, a tumour forms in the same region as the nevus. The tumour is usually benign, although rarely cancerous (malignant) tumours develop.
Some affected individuals have only an epidermal nevus and no other abnormalities. However, sometimes people with an epidermal nevus also have problems in other body systems, such as the brain, eyes, or bones. In these cases, the affected individual has a condition called an epidermal nevus syndrome. There are several different epidermal nevus syndromes characterised by the type of epidermal nevus involved.
Modelli di ereditarietà
The source lists the following possible inheritance patterns: Not inherited. More than one pattern can apply in different cases.
Related genes
Altri nomi
Epidermal naevus
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Ulteriori letture e riferimenti
- Epidermal nevus; MedlinePlus, National Library of Medicine.
- Brandling-Bennett HA, Morel KD. Epidermal nevi. Pediatr Clin North Am. 2010 Oct;57(5):1177-98. doi: 10.1016/j.pcl.2010.07.004.
- Groesser L, Herschberger E, Ruetten A, Ruivenkamp C, Lopriore E, Zutt M, Langmann T, Singer S, Klingseisen L, Schneider-Brachert W, Toll A, Real FX, Landthaler M, Hafner C. Postzygotic HRAS and KRAS mutations cause nevus sebaceous and Schimmelpenning syndrome. Nat Genet. 2012 Jun 10;44(7):783-7. doi: 10.1038/ng.2316.
- Hafner C, Di Martino E, Pitt E, Stempfl T, Tomlinson D, Hartmann A, Landthaler M, Knowles M, Vogt T. FGFR3 mutation affects cell growth, apoptosis and attachment in keratinocytes. Exp Cell Res. 2010 Jul 15;316(12):2008-16. doi: 10.1016/j.yexcr.2010.04.021. Epub 2010 Apr 24.
- Hafner C, Lopez-Knowles E, Luis NM, Toll A, Baselga E, Fernandez-Casado A, Hernandez S, Ribe A, Mentzel T, Stoehr R, Hofstaedter F, Landthaler M, Vogt T, Pujol RM, Hartmann A, Real FX. Oncogenic PIK3CA mutations occur in epidermal nevi and seborrheic keratoses with a characteristic mutation pattern. Proc Natl Acad Sci U S A. 2007 Aug 14;104(33):13450-4. doi: 10.1073/pnas.0705218104. Epub 2007 Aug 2.
- Hafner C, Toll A, Gantner S, Mauerer A, Lurkin I, Acquadro F, Fernandez-Casado A, Zwarthoff EC, Dietmaier W, Baselga E, Parera E, Vicente A, Casanova A, Cigudosa J, Mentzel T, Pujol RM, Landthaler M, Real FX. Keratinocytic epidermal nevi are associated with mosaic RAS mutations. J Med Genet. 2012 Apr;49(4):249-53. doi: 10.1136/jmedgenet-2011-100637.
- Hafner C, van Oers JM, Vogt T, Landthaler M, Stoehr R, Blaszyk H, Hofstaedter F, Zwarthoff EC, Hartmann A. Mosaicism of activating FGFR3 mutations in human skin causes epidermal nevi. J Clin Invest. 2006 Aug;116(8):2201-2207. doi: 10.1172/JCI28163.
- Hernandez S, Toll A, Baselga E, Ribe A, Azua-Romeo J, Pujol RM, Real FX. Fibroblast growth factor receptor 3 mutations in epidermal nevi and associated low grade bladder tumors. J Invest Dermatol. 2007 Jul;127(7):1664-6. doi: 10.1038/sj.jid.5700705. Epub 2007 Jan 25.
- Miranda LQ, Fracaroli TS, Fonseca JC, Fontenelle E, Curvo RP, Porto LC, Souto R. Analysis of mutations in the PIK3CA and FGFR3 genes in verrucous epidermal nevus. An Bras Dermatol. 2013 Nov-Dec;88(6 Suppl 1):36-8. doi: 10.1590/abd1806-4841.20132055.
- Toll A, Fernandez LC, Pons T, Groesser L, Sagrera A, Carrillo-de Santa Pau E, Vicente A, Baselga E, Vazquez M, Beltran S, Pisano DG, Rueda D, Gut M, Pujol RM, Hafner C, Gut I, Valencia A, Real FX. Somatic Embryonic FGFR2 Mutations in Keratinocytic Epidermal Nevi. J Invest Dermatol. 2016 Aug;136(8):1718-1721. doi: 10.1016/j.jid.2016.03.040. Epub 2016 Apr 19. No abstract available.
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