Epidermal nevus syndrome (ENS) is a term that encompasses several phenotypes defined by the association of an epidermal nevus with one or more congenital systemic anomalies, mainly ocular, osseous and cerebral.
How do you get rid of intradermal nevus?
- Examine the lesion in bright light, preferably daylight if available.
- Use drawings or photography to note the site (s), size and pigmentation of the lesion.
- Establish that the lesion has the typical pattern of pigmentation and is raised from the level of the skin.
What is the prognosis for epidermal nevus syndrome?
The prognosis depends on the presence and the severity of any of a variety of associated internal defects. Mortality and morbidity are related to the associated systemic anomalies. The patient and/or the family should be reassured that epidermal nevus syndrome is not a genetic disorder that can be passed to future children.
Is epidermal nevi curable by laser treatment?
It can sometimes take a linear or swirled pattern on the skin. Epidermal nevi can be lightened by using the Q-switched Alexandrite Nd:YAG and ruby lasers. They can also be removed with CO2 laser. Several treatments are usually required to effectively treat this condition.
What is the epidermal layer that produces new cells?
The epidermis has many additional functions, including:
- Hydration. The outermost layer of the epidermis (stratum corneum) holds in water and keeps your skin hydrated and healthy.
- Producing new skin cells. New skin cells develop at the bottom layer of your epidermis (stratum basale) and travel up through the other layers as they get older. ...
- Protection. ...
- Skin color. ...
How do you treat epidermal nevus?
The treatment of choice for small epidermal nevi is surgical excision. Superficial means of removal frequently result in recurrence. Aggressive approaches may be more successful, but also carry a higher risk of postoperative scarring.
Can epidermal nevus be cured?
The only way to completely remove these lesions is to have them removed by surgery. Laser does not permanently remove epidermal nevi.
Can epidermal nevus turn cancerous?
In epidermal nevus syndrome, nevus formation of various types may be associated with neurologic, ocular, skeletal, or other systemic abnormalities. It has been recognized that epidermal nevi, especially of the organoid type, are associated with an increased risk of BCC and occasionally, squamous cell carcinoma.
What does epidermal nevus look like?
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.
What is the cause of epidermal nevus?
Most epidermal nevus syndromes are thought to be caused by a gene mutation that occurs after fertilization of the embryo (postzygotic mutation), at an early stage of embryonic development. Affected individuals have some cells with a normal copy of this gene and some cells with the abnormal gene (mosaic pattern).
What causes nevus?
Congenital nevi are thought to be caused by a genetic mutation, called a sporadic mutation, which develops randomly as a baby grows in the womb. The condition is not inherited.
Is nevus genetic?
The term nevus is derived from a Latin root meaning “birthmark,” implying that nevi are present at birth. However, despite the root meaning, the majority of nevi are acquired after birth. Interestingly, these acquired nevi share genetic and environmental risk factors with malignant melanoma.
Is a nevus a mole?
Most people continue to develop new moles until about age 40. In older people, common moles tend to fade away. Another name for a mole is a nevus. The plural is nevi.
Is nevus contagious?
A mole on your skin is also known as a nevus, or a beauty mark. It is very common to have moles and most are harmless. They're not contagious and they shouldn't hurt, itch, or bleed.
What is an epidermal?
(EH-pih-DER-mis) The outer layer of the two main layers of the skin.
How do I get rid of sebaceous nevus?
For nevus sebaceous treatment, the time of resection is controversial, but most investigators suggest that surgical excision is the treatment of choice2. However, removing nevus sebaceous by surgical excision leaves linear scar. To minimize scar, there were several other treatment options include CO2 laser treatment.
Can an epidermal nevus grow back?
It may not be possible if the nevus originates too deeply. Recurrence has been known to happen in some cases. Scarring is a significant and inevitable limitation of this modality. Other modes of ablating superficial layers of the skin include cryosurgery, dermabrasion, electrosurgery, and laser surgery.
What is Spitz nevus?
INTRODUCTION AND TERMINOLOGY Spitz nevus (or Spitz tumor) is an uncommon, melanocytic lesion composed of large, epithelioid and/or spindled cells that presents as a well-circumscribed, dome-shaped, pink-red or brown papule, most commonly located on the face or lower extremities (picture 1A).
What is a Becker's nevus?
Overview. Becker's nevus is a non-cancerous, large, brown birthmark occurring mostly in males. It can be present at birth, but is usually first noticed around puberty. It typically occurs on one shoulder and upper trunk but occasionally occurs elsewhere on the body.
What is a sebaceous nevus?
A nevus sebaceous (NEE vuhs sih BAY shus) is a type of birthmark that usually appears on the scalp. It may also appear on the face but this is less common. It is made of extra oil glands in the skin. It starts as a flat pink or orange plaque (slightly raised area). Hair does not grow in a nevus sebaceous.
How are epidermal naevus syndromes diagnosed?
The epidermal naevus syndromes are diagnosed clinically by a careful history and examination. Supportive investigations in a child with systemic or neurological symptoms may include:
What is an epidermal naevus?
What are epidermal naevus syndromes? An epidermal naevus is a type of birthmark in which there is an overgrowth of one or more components of the epidermis or outer layer of skin. Epidermal naevus syndromes refer to the co-existence of a keratinocytic epidermal naevus or an organoid naevus with other abnormalities in the skin and other organs.
What is the treatment for epidermal naevus syndromes?
A multidisciplinary approach is often necessary to optimise the management of symptoms. There is no cure.
How many syndromes are associated with a keratinocytic epidermal naevus?
Three syndromes associated with a keratinocytic epidermal naevus are now well defined.
What is a naevus spilus?
Naevus spilus is a type of congenital melanocytic naevus. It presents as a flat brown café au lait macule in a baby and later develops darker speckles and papules. Phakomatosis pigmentokeratotica may include features associated with Schimmelpenning syndrome (above) and with papular naevus spilus syndrome. These are:
What is the name of the type of Cowden disease?
Multiple hamartoma syndrome or Cowden disease can include a Cowden naevus when it is called Type 2 segmental Cowden disease. The Cowden naevus is a linear, thick, bumpy, wart-like growth.
What is Scalp syndrome?
SCALP syndrome is didymosis aplasticosebacea in association with a giant melanocy tic naevus. The name is an acronym for Sebaceous naevus, Central nervous system abnormalities, Aplasia cutis, Limbal dermoid, and Pigmented naevus.
What is the epidermal nevus?
Epidermal nevus syndrome (also known as " Feuerstein and Mims syndrome ", and " Solomon's syndrome ") is a rare disease that was first described in 1968 and consists of extensive epidermal nevi with abnormalities of the central nervous system (CNS), skeleton, skin, cardiovascular system, genitourinary system and eyes.
What is the name of the disease that affects the central nervous system?
Epidermal nevus syndrome. Epidermal nevus syndrome (also known as " Feuerstein and Mims syndrome ", and " Solomon's syndrome ") is a rare disease that was first described in 1968 and consists of extensive epidermal nevi with abnormalities of the central nervous system (CNS), skeleton, skin, cardiovascular system, genitourinary system and eyes.
What is the epidermal nevus?
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.
What is a nevus?
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.
What is the gene for nevus sebaceous?
Mutations in the HRAS gene are found in a majority of people with a nevus sebaceous and are also associated with keratinocytic epidermal nevi. Genes related to HRAS (called KRAS and NRAS) are less commonly involved in nevi sebaceous or keratinocytic epidermal nevi. Other genes, some of which have not been identified, ...
What are the different types of nevi?
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 tumor forms in the same region as the nevus. The tumor is usually benign, although rarely cancerous ( malignant) tumors develop.
What is the name of the line that follows the path of cells that migrate to the skin before birth?
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.
What is the name of the group of nevi?
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 ).
Why are people with epidermal nevus mosaic?
Because the mutation is found in some of the body's cells but not in others , people with an epidermal nevus are said to be mosaic for the mutation. Learn more about the genes associated with Epidermal nevus. Expand Section. FGFR2.
What is the epidermal nevus?
Sometimes, people with an epidermal nevus may have problems in other body systems, such as the brain, eyes, or bones; these people are said to have an epidermal nevus syndrome, which is a group of different disorders. [1] [2] [3] [4] Mutations associated with an epidermal nevus are present only in the cells of the nevus, ...
What is a nevus?
An epidermal nevus is a noncancerous (benign) patch of skin caused by an overgrowth of skin cells. The nevi (plural form of nevus) are seen at birth or develop in early childhood. They can be flat, tan patches of skin, or raised, velvety patches and may become thicker and darker and develop a wart-like (verrucous) appearance.
What is epidermal nevus syndrome?
Epidermal nevus syndrome (ENS) is an inclusive term for a heterogeneous group of congenital disorders characterized by the presence of epidermal nevi associated with systemic involvement. These disorders, as are all primary neurocutaneous syndromes, are neurocristopathies. The epidermal nevi that fo ….
What is the most common anomaly in the brain in all forms of epidermal nevus syndromes?
The most important and frequent anomaly in the brain in all forms of epidermal nevus syndromes (ENSs) is hemimegalencephaly (HME). This malformation often is not recognized, despite being the principal cause of neurological manifestations in ENSs.
What is ENS syndrome?
Epidermal nevus syndrome (ENS) is an inclusive term for a heterogeneous group of congenital disorders characterized by the presence of epidermal nevi associated with systemic involvement. These disorders, as are all primary neurocutaneous syndromes, are neurocristopathies. The epidermal nevi that follow the lines of Blaschko and most systemic anomalies in skeletal, ocular, cardiovascular, endocrine, and orodental tissues, as well as lipomas, are due to defective neural crest. The most important and frequent anomaly in the brain in all forms of epidermal nevus syndromes (ENSs) is hemimegalencephaly (HME). This malformation often is not recognized, despite being the principal cause of neurological manifestations in ENSs. They consist mainly of epilepsy and developmental delay or intellectual disability. The onset of epilepsy in ENS usually is in early infancy, often as infantile spasms. Several syndromic forms have been delineated. I propose the term "Heide's syndrome" for those distinctive cases with the typical triad of hemifacial epidermal nevus, ipsilateral facial lipoma, and hemimegalencephaly. Most ENSs are sporadic. The mechanism is thought to be genetic mosaicism with a lethal autosomal dominant gene. Specific genetic mutations (PTEN, FGFR3, PIK3CA, and AKT1) have been documented in some patients. The large number of contributors for over more than a century and a half to the description of these disorders precludes the use of new author eponyms.
When does epilepsy start in ENS?
The onset of epilepsy in ENS usually is in early infancy, often as infantile spasms. Several syndromic forms have been delineated. I propose the term "Heide's syndrome" for those distinctive cases with the typical triad of hemifacial epidermal nevus, ipsilateral facial lipoma, and hemimegalencephaly. Most ENSs are sporadic.
What is Epidermal Nevus?
Epidermal nevus is a clinical term for a family of skin lesions that involve the outer portion of skin, the epidermis, and are distributed in a linear and often swirled pattern. Overall, epidermal nevi are not uncommon congenital malformations, occurring in 1-3 per 1000 births.
What are the different types of epidermal nevus?
All epidermal nevi show some changes in texture which can range from very rough, warty and spiny, and often darker than the surrounding normal or uninvolved skin ( verrucous epidermal nevus ), to red and scaly ( inflammatory linear verrucous epidermal nevus or ILVEN ), to yellowish, rough and pebbly appearance due to proliferation of oil- or ’sebaceous’ gland-like structures ( nevus sebaceous ). If they are limited to the epidermal linings of the hair follicles, they may appear like blackheads: nevus comedonicus . Another related and relatively common entity, the Becker’s nevus, is a form of epidermal nevus with a somewhat velvety texture, mild to moderate hyperpigmentation and coarser vellus hairs. It typically occurs on the trunk during childhood or adolescence in a broader, patchy rather than linear pattern. The term ‘nevus’ is also used for other birthmarks, malformations and some benign growths, such as melanocytic nevi, or ‘moles’.
What are the genes that cause epidermal nevus?
The genetics of epidermal nevi, including the sebaceous and comedonal subtypes , reflect this clinical heterogeneity. To date, mutations in keratin 1 (KRT1), keratin 10 (KRT10), fibroblast growth factor receptor 3 (FGFR3), fibroblast growth factor receptor 2 (FGFR2), PICK3A, HRAS, KRAS, and NRAS have been identified. Genetic diagnosis is performed on a skin biopsy from an affected area. For widespread or syndromic nevi, the same mutation is found in both the epidermal nevus and the other affected tissues, including other types of skin lesions. It is likely that in the future with more research, it will be possible to associate particular patterns of malformations with specific genes. Parents of a child with an epidermal nevus should generally not be at increased risk for other affected children, because the mutation did not arise within their sperm or eggs, but within the fetal tissue. However, there is some risk that the individual with an epidermal nevus could pass the mutant gene onto their offspring, if their germline tissue is also mosaic for the mutation. For example, affected offspring with widespread epidermolytic ichthyosis has been reported from individuals with epidermolytic epidermal nevi. This risk is difficult to quantify, and patients desiring more information are advised to seek formal genetic counseling. Because of the high probability that these nevi carry a mutation in either keratin 1 or keratin 10, skin biopsy to look for features epidermolytic hyperkeratosis may also be useful prior to genetic testing.
What is the name of the condition in which the nevus is associated with defects or malformations in other organ?
Epidermal nevus syndrome and its subtypes, nevus sebaceous syndrome (syn: Schimmelpennig-Feuerstein-Mims syndrome) and nevus comedonicus syndrome, occur when some epidermal nevi are associated with defects or malformations in other organ systems, particularly of the central nervous system, eyes, and the skeleton.
What does Becker's Nevus look like?
If they are limited to the epidermal linings of the hair follicles, they may appear like blackheads: nevus comedonicus . Another related and relatively common entity, the Becker’s nevus, is a form of epidermal nevus with a somewhat velvety texture, mild to moderate hyperpigmentation and coarser vellus hairs.
What is a keratotic nevus?
Porokeratotic eccrine nevus is another keratotic epidermal nevus. It involves the intraepidermal ducts of the eccrine (sweat) glands with a characteristic histopathology. Lesions may be limited to palms/soles or more widespread in a linear pattern and are due to somatic mutations in GJB2.
Why do doctors test for Becker's Nevus?
Doctors frequently use genetic testing to help define which ichthyosis a person actually has. This may help them to treat and manage the patient. Another reason to have a genetic test is if you or a family member wants to have children.
Are You Confident of the Diagnosis?
The epidermal nevus syndrome encompasses a heterogeneous group of disorders characterized by wide-spread whorls or bands of epidermal or appendageal cell types associated with one or more systemic abnormalities, with the central nervous system, eyes, and skeleton being most frequently involved.
Optimal Therapeutic Approach for this Disease
Surgical excision of cutaneous lesions that may be problematic should be considered prior to school age. This is particularly true for patient with lesions in the axillary and inguinal regions since thickening of lesions in those areas before puberty is not uncommon (ptychotrophism). Clearly, any tumors that arise need to be removed.
Patient Management
A multispecialty approach to patients with ENS is best. Neurology, ophthalmology, orthopedics, and later plastic surgery should provide assessments. Selective radiologic imaging will be necessary and may include magnetic resonance imaging and computed tomography of the craniospinal axis.
What is the Evidence?
Happle, R. “The group of epidermal nevus syndromes: Part I. Well defined phenotypes”. J Am Acad Dermatol. vol. 63. 2010. pp. 1-22. (This is an extensive review of the most common epidermal nevus syndromes.)
What is the epidermal nevus syndrome?
Solomon defines epidermal nevus syndrome as a sporadic neurocutaneous linkage of congenital ectodermal defects in the skin, brain, eyes, and/or skeleton. Epidermal nevus syndrome is often termed the Solomon syndrome. Schimmelpenning first detailed epidermal nevi with neurologic anomalies; hence, the term Schimmelpenning syndrome.
What is linear epidermal nevus?
Linear epidermal nevus syndrome is a congenital neurocutaneous disorder characterized by linear epidermal nevus with significant involvement of the nervous, ophthalmologic, and/or skeletal systems. [ 2] Clinical manifestations include mental retardation, seizures, and movement disorders that are caused by a wide range of neuropathologic lesions. Intracranial and/or intraspinal lipomas may occur.
What is the most common neoplasm developed in nevus sebaceus of Jadassohn?
Jaqueti G, Requena L, Sanchez Yus E. Trichoblastoma is the most common neoplasm developed in nevus sebaceus of Jadassohn: a clinicopathologic study of a series of 155 cases. Am J Dermatopathol. 2000 Apr. 22 (2):108-18. [Medline].
What is Schimmelpenning syndrome?
Schimmelpenning first detailed epidermal nevi with neurologic anomalies; hence, the term Schimmelpenning syndrome. The term organoid nevus may be used to emphasize the admixture of epidermal cells often evident in individual lesions of epidermal nevi.
What is an epidermal nevi?
Answer. Epidermal nevi (EN) are congenital hamartomas of embryonal ectodermal origin classified on the basis of their main component; the component may be sebaceous, apocrine, eccrine, follicular, or keratinocytic. An estimated one third of individuals with epidermal nevi have involvement of other organ systems; hence, ...
Is nevus comedonicus a linear or a vascular plaque?
Cataracts may be a prominent feature of nevus comedonicus syndrome. Inflammatory linear verrucous epidermal nevus is a linear, persistent, pruritic plaque, usually first noted on a limb in early childhood. Originally described by Unna in 1896, a few patients were reported prior to 1971 when Altman and Mehregan [ 5] delineated inflammatory linear ...
