However, it is inappropriate to use these terms to denote a single disorder or interchangeably with epidermal nevus syndromes. The linear epidermal nevus and epidermal nevus syndrome are discussed separately. Sep 26, 2012 there are several different types of epidermal nevi, including keratinocyte epidermal nevi, nevus sebaceous, nevus comedonicus, and becker nevus. Epidermal nevi en represent benign congenital skin lesions following the lines of blaschko. Epidermal nevus syndrome ens is a rare congenitally acquired syndrome, characterized by the presence of epidermal nevi in association with various developmental abnormalities of the skin, eyes, nervous, skeletal, cardiovascular and. Epidermal nevus syndrome is a heterogeneous group of disorders characterized. Abnormal, enhancing, enlarged cervical and lumbosacral nerve roots were present in one patient. Epidermal nevus syndrome associated with ocular symblepharon. Mr imaging of the spine demonstrated intraspinal lipomas in both cases. In such cases, an epidermal nevus syndrome is present, with sporadic presentation, comprising neurological, skeletal, ocular, and.
Epidermal nevus syndrome definition of epidermal nevus. Epidermal nevi are overgrowths of structures and tissue of the epidermis, the. The syndrome is sometimes transmitted to offspring by autosomal dominant inheritance. Epidermal nevus article about epidermal nevus by the free. Nevus unius lateris, bilateral linear epidermal nevi, and ichthyosis hystrix may all be. Systemic epidermal nevus with involvement of the oral mucosa. The syndrome has also been reported as pigmentary hairy epidermal nevus syndrome. Epidermal nevus syndrome ens is a term used to describe the occurrence of an epidermal nevus in association with other extracutaneous developmental anomalies, most commonly involving the. Molecular genetic analysis revealed a mosaicism of the fgfr3 hotspot mutation r248c in the en lesions of. Papular epidermal nevus with skyline basal cell layer syndrome pens is a very rare type of keratinocytic epidermal nevi that includes a specific type of skin lesion and can be associated with other birth defects and neurological problems. Epidermal nevi are benign, hamartomatous growths of the skin that are present at birth or develop in early childhood. Organoid nevus syndrome is a general term that could be applied to at least five different types of ens. We report a rare case of ilven syndrome in a 23yearold female patient with a wide spectrum of mucosal. Five of these patients also had central nervous system cns.
The epidermal naevus syndromes usually arise sporadically, with the exception of child syndrome, which is familial. Clinical manifestations include mental retardation, seizures, and movement disorders that are caused by a wide range of neuropathologic lesions. The term epidermal nevus syndrome ens is used for any of the various clinical entities which are distinctive in terms of their signs and symptoms, histopathology, and genetic composition. Epidermal nevi show a prevalence of about one in 1,000 live births and affect males and females equally. Nevus or nevi if multiple is a nonspecific medical term for a visible, circumscribed, chronic lesion of the skin or mucosa.
Apr 26, 2014 prevalence, epidemiology and etiology. They can be flat, tan patches of skin, or raised, velvety patches and may become thicker and darker and develop a wartlike verrucous appearance. Jan 28, 2016 becker nevus syndrome is characterized by the presence of a becker nevus in association with underdevelopment hypoplasia of the breast andor other skinrelated cutaneous, muscular, or skeletal defects, all of which usually involve the same side of the body as the nevus ipsilateral. Epidermal nevus syndrome associated with hypophosphatemic. They result from genetic mosaicism, and activating fgfr3 and pik3ca mutations have been implicated. Figure 1452 nevus sebaceous on the scalp of a 14yearold boy. An epidermal nevus is a noncancerous benign patch of skin caused by an overgrowth of skin cells. It is usually sporadic, but familial cases have been reported. Although many continue to use the term epidermal nevus syndrome, it is now understood that this is not one disease, but rather a heterogeneous group each with distinct genetic profiles but defined by a common cutaneous phenotype. Epidermal nevus syndrome an overview sciencedirect topics. Papular epidermal nevi with skyline basal cell layers syndrome. Epidermal nevus syndromes nord national organization. These entities are united by their association with epidermal nevi and extracutaneous abnormalities. Epidermal nevus en is a benign hamartomatous growth.
Epidermal nevi are typically seen at birth or develop in early childhood. Mar 26, 2020 garciavargas a, hafner c, perezrodriguez ag, et al. It presents as a group of verrucous, closely grouped, skincolored to brown papules often in a linear arrangement following the lines of blaschko. Verrucous epidermal naevi primary care dermatology society uk. Pdf inflammatory linear verrucous epidermal nevus syndrome. A profound case of linear epidermal nevus in a patient with epidermal nevus syndrome. Less than 100 cases have been reported in the literature, with a slightly higher. However, the necessity and timing of excision is controversial. We observed four cases of this disorder with epidermal nevi and neurologic manifestations, including mental retardation. Therefore, the umbrella term epidermal nevus syndromes now represents a group of distinct disorders that have in common the presence of one of the various types of epidermal nevi. 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. Mr imaging of the spine in epidermal nevus syndrome timothy n.
Pdf epidermal nevi are hamartomatous lesions that are typically present at birth, but can occur anytime. Epidermal nevus in association with some uncommon manifestations. Figure 1453 can be part of an epidermal nevus syndrome but some affected persons only have the cutaneous en. Nevus unius lateris, bilateral linear epidermal nevi, and ichthyosis hystrix may all be considered clinical variants of epidermal nevi. An inflammatory linear verrucous epidermal nevus ilven. Genetically transmitted group of neurocutaneous disorders characterized by epidermal nevi, odontodysplasia, mental retardation, and various other malformations. Affected individuals have one or more nevi that vary in size. Pdf epidermal nevus syndrome ens is a rare disease, the pathogenesis. Epidermal nevus syndrome also known as feuerstein and mims syndrome, and solomons syndrome.
O diagnosis and treatment of congenital deformities of the. The treatment of ens is directed toward the specific symptoms that are. The epidermal nevus syndrome jama dermatology jama network. Mr imaging of the spine in epidermal nevus syndrome. Identification of a novel s249c fgfr3 mutation in a keratinocytic epidermal nevus syndrome. Article pdf available in indian journal of dermatology, venereology and. Genetic and clinical mosaicism in a type of epidermal nevus. Epidermal nevi and nevus sebaceous the color atlas of. There are several different types of epidermal nevi, including keratinocyte epidermal nevi, nevus sebaceous, nevus comedonicus, and becker nevus. An epidermal nevus is formed of skin cells which proliferate abnormally in a noncancerous way, to produce a benign overgrowth in the outer layer of skin. The association of multiple cutaneous abnormalities, including multiple nevi, hemangiomas, andor skin cancers, with scattered skeletal, neurological, urological, ophthalmic, and vascular malformations. We report a female patient with a systemic keratinocytic nevus also involving the oral mucosa.
Jan 04, 2017 linear nevus sebaceous syndrome lnss is characterized by the presence of a large, linear sebaceous nevus type of birthmark usually present from birth with a broad range of abnormalities that may affect every organ system, including the central nervous system cns. Individuals with en, also often have other skin lesions, such as cafeaulait macules pigmented birthmarks, vascular abnormalities, and melanocytic or hypopigmented. In such cases, an epidermal nevus syndrome is present, with sporadic presentation, comprising neurological, skeletal, ocular, and cutaneous defects caused. Linear nevus sebaceous syndrome genetic and rare diseases. This article highlights the varied clinical and histologic features of epidermal nevi, discusses recent data on pathogenesis, and provides an update on treatment options.
This is simple html version for faster download on mobiles if viewed. An epidermal nevus syndrome with cerebral involvement caused by a mosaic fgfr3 mutation. Create a free personal account to download free article pdfs, sign up for alerts. Keratinocytic epidermal nevus syndrome kens is a complex disorder not only characterized by the presence of epidermal nevi but also. Histopathologic examination was consistent with a verrucous epidermal nevus, which is a benign epidermal hamartoma, most commonly observed in the pediatric population. The epidermal nevus syndrome is a neurocutaneous disorder characterized by distinctive skin lesions and often serious somatic and central nervous system cns abnormalities. May 07, 2018 epidermal nevus can be present as epidermal nevus syndrome. There are several types of epidermal nevus that are defined in part by the type of epidermal cell. However, the term epidermal nevus syndrome could be correctly applied to several different disorders. Neurologic complications of the epidermal nevus syndrome. Definitive treatment of a nevus sebaceous is surgical excision. Mr of intracranial involvement stefania lazzeri, 1 mario mascalchi,2 martino cellerini, 1 maria grazia martinetti,3 and giancarlo dal pozzo1 summary. We report two cases of epidermal nevus syndrome ens involving the spine. Epidermal naevus syndromes refer to the coexistence of a keratinocytic epidermal naevus or an organoid naevus with other abnormalities in the skin and other organs.
Epidermal nevus syndromes nord national organization for. Epidermal nevus syndrome is a broad term encompassing several disease processes. Pdf epidermal nevus syndrome associated with unusual. Becker nevus syndrome genetic and rare diseases information. When multiple organs are involved the condition is referred to as an epidermal naevus syndrome ens. Epidermal nevus syndromes enss are a group of rare complex disorders characterized. Several authors have commented that the term epidermal naevus syndrome is outdated now that the genetic causes are known for many of the disorders. There are several variations of en including localized nevus unius lateris. Update on epidermal nevi and associated syndromes pdf.
Mar 26, 2020 linear epidermal nevus syndrome is a congenital neurocutaneous disorder characterized by linear epidermal nevus with significant involvement of the nervous, ophthalmologic, andor skeletal systems. Syndromes associated with epidermal nevi also are described. Epidermal nevus syndrome is a group of congenital neurocutaneous disorders characterized by epidermal nevi in association with cerebral, ocular, skeletal, and sometimes cardiac and renal. The skin lesions appear as small, slightly scaly, pimples papules made of the thickened outer layer of the skin hyperkerotosis with a rough. Focal thickening of the calvarium, hypoplasia of the white matter, cortical calcifications, and a leptomeningeal drape. The defect causing the skin lesions may also result in disorders of other internal organs such as the brain, eyes and skeleton. Keratinocytic epidermal nevus syndrome with schwann cell. Epidermal nevus syndrome ens is a rare condi tion characterized by congenital epidermal nevi en associated abnormalities of other. A 64yearold man presented with a threeyear history of an enlarging, pruritic, linear, verrucous plaque on his left lower extremity. Although many continue to use the term ens, it is now understood that this is not one disease, but rather a heterogeneous group with distinct genetic profiles defined by a common cutaneous phenotype. Update on epidermal nevi and associated syndromes springerlink. Epidermal nevus syndrome associated with ocular symblepharon and gum hypertrophy a rare variant. They may be composed of a variety of epidermal cells and structures, including keratinocytes, sebaceous glands, hair follicles, apocrine and eccrine glands, and smooth muscle cells, and are thought to represent a form of cutaneous mosaicism.
Renal aberrancies associated with this syndrome include nephroblastoma, hamartomas, hypoplasia, and renal agenesis. Two other terms that have been used to describe enss are organoid nevus syndrome and keratinocytic nevus syndrome. The two most frequent, keratinocytic nevus syndrome and linear sebaceous nevus syndrome, also correspond to the neurological phenotypes. 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. Most epidermal naevi remain unchanged in adulthood and do not cause any problems. Epidermal nevus genetic and rare diseases information. The term epidermal nevus syndrome ens has been used to describe the association of epidermal hamartomas and extracutaneous abnormalities. The nevi plural form of nevus are seen at birth or develop in early childhood. They were found in ten of 12 patients examined to be accompanied by congenital skeletal disorders.
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