Jun 06, 2011 epidermal nevus syndrome is a term that refers to the association of epidermal nevus with systemic anomalies. The epidermal nevus syndrome jama dermatology jama network. All 5 patients had an epibulbar tumor, which proved to be a complex choristoma in one case that was studied histopathologically. The syndrome is sometimes transmitted to offspring by autosomal dominant inheritance. Inflammatory linear verrucous epidermal nevus ilven, is a type of epidermal nevus which is characterized by psoriasiform papules. 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 broad term encompassing several disease processes. Epidermal nevus syndromes nord national organization. Several treatments are usually required to effectively treat this condition. Sometimes, people with an epidermal nevus may have problems in other body systems, such as the brain, eyes, or bones. May 07, 2018 epidermal nevus can be present as epidermal nevus syndrome. When multiple organs are involved the condition is referred to as an epidermal naevus syndrome ens. They appear at or shortly after birth as localized epidermal thickening with hyperpigmentation that frequently follow the lines of blaschko, suggesting that they result from postzygotic somatic mutation in the skin paller et al. He remained seizure free with topiramate monotherapy.
Epidermal nevus epidermal nevus is a lesion that is usually present at birth. A small number of cases with kens are molecularly characterized and reported in the literature with somatic activating ras, fgfr3 and pik3ca mutations. Neuropathological study ryoichi sakuta, md, hisashi aikawa, md, sachio takashima, md and shigeo ryo, md a neuropathologic examination of a 5yearboy with epidermal nevus syndrome and hemimegalencephaly revealed 1 left hemimegalencephaly with an increased volume of the white matter, and 2 cerebral polymicrogyria with pachygyria, heterotopic. Common terms, including mole, birthmark, and beauty mark, are used to describe nevi, but these terms do not distinguish. The epidermal naevus syndromes refer to the association of a keratinocytic or organoid epidermal naevus with abnormalities in other organ systems derived from the embryonic ectoderm.
Epidermal nevus syndrome presenting as hypophosphatemic. Individuals with en, also often have other skin lesions, such as cafeaulait macules pigmented birthmarks, vascular abnormalities, and melanocytic or hypopigmented. 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. Consider an epidermal nevus if a lesion resembles a seborrheic keratosis but is in a child or young individual, or is described as. We described a child presenting with inflammatory linear verrucous epidermal. The epidermal naevus syndromes usually arise sporadically, with the exception of child syndrome, which is familial. Sep 26, 2012 there are several different types of epidermal nevi, including keratinocyte epidermal nevi, nevus sebaceous, nevus comedonicus, and becker nevus. Mar 26, 2020 papillary transitional cell bladder carcinoma and systematized epidermal nevus syndrome. The defect causing the skin lesions may also result in disorders of other internal organs such as the brain, eyes and skeleton. This complex phenotype fits the genetic mosaicism theory. Epidermal nevus definition of epidermal nevus by medical.
The two most frequent, keratinocytic nevus syndrome and linear sebaceous nevus syndrome, also correspond to the neurological phenotypes. Patients present with an epidermal nevus, but are also affected by several developmental anomalies, most commonly of the brain, eyes and skeleton. Click on the link to view a sample search on this topic. Inflammatory linear verrucous epidermal nevus genetic and. Jun 05, 2016 an inflammatory linear verrucous epidermal nevus ilven figure 1643 can be part of an epidermal nevus syndrome but some affected persons only have the cutaneous en. Epidermal nevus laser skin surgery center of new york. From among over 60 patients with ens presenting with neurologic manifestations, we identified 17 who had hemimegalencephaly based on pathologic or radiologic studies. Congenital rhabdomyosarcoma, central precocious puberty, hemihypertrophy and hypophosphatemic rickets associated with epidermal nevus syndrome. The association of multiple cutaneous abnormalities, including multiple nevi, hemangiomas, andor skin cancers, with scattered skeletal, neurological, urological, ophthalmic, and vascular malformations. Linear epidermal nevus syndrome and linear sebaceus nevus syndrome are rare neurocutaneoussyndromes characterized by epidermal nevi, epilepsy, and mental retardation. Our ermatology online letter to the editor inflammatory.
Epidermal nevi syndrome ens is a multisystem neurodermatological disorder in which epidermal nevi may be associated with neurological, skeletal, ocular. The neurologic, ophthalmologic, and skeletal systems are most commonly involved. Nevus comedonicus syndrome genetic and rare diseases. Four had a classic sebaceous nevus in the facial and scalp area, and 2 had seizures and arachnoid cysts. Becker nevus, becker nevus syndrome, breast hypoplasia, epidermal nevus. 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. Jun 20, 2019 an epidermal nevus is a congenital condition in which there is a benign overgrowth of the embryonal ectoderm in the skin, leading to a cutaneous warty or smooth raised lesion. Epidermal nevi are typically seen at birth or develop in early childhood. Shahgholi e, mollaian m, haghshenas z, honarmand m. Associated brain and neurologic abnormalities included gyral. The epidermal nevus syndrome is a multisystem defect that includes epidermal nevi and cerebral and musculoskeletal abnormalities. They were found in ten of 12 patients examined to be accompanied by congenital skeletal disorders.
The epidermal nevus syndrome ens is a sporadic neurocutaneous disorder that consists of epidermal nevi and congenital anomalies involving the brain and other systems. They can be present at birth or develop during the. Epidermal nevi are benign, hamartomatous growths of the skin that are present at birth or develop in early childhood. Epidermal nevus syndrome has been described with a combination of widespread eccrine proliferation, multiple facial and oral poxlike lesions, gingival synechiae, blepharophimosis, body asymmetry, and mental retardation.
Five of these patients also had central nervous system cns. Pdf hypophosphatemic rickets with epidermal nevus syndrome. Epidermal nevus can be present as epidermal nevus syndrome. Epidermal nevus syndrome an overview sciencedirect topics. Prior to the study, patient gave written consent to the examination and biopsy after having been informed about the procedure. An estimated one third of individuals with epidermal nevi have involvement of other organ systems. Figure 1642 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. Renal aberrancies associated with this syndrome include nephroblastoma, hamartomas, hypoplasia, and renal agenesis. Linear epidermal nevus and nevus sebaceus syndromes. A profound case of linear epidermal nevus in a patient with. Epidermal nevus article about epidermal nevus by the. A rare subgroup of epidermal nevi is clinically indistinguishable from other. Clinical presentations include seizures, paresis, mental retardation, and developmental delay.
Nevus or nevi if multiple is a nonspecific medical term for a visible, circumscribed, chronic lesion of the skin or mucosa. 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. There are several types of epidermal nevus that are defined in part by the type. Ophthalmic features of the organoid nevus syndrome.
Neuroimaging features of epidermal nevus syndrome american. Keratinocytic epidermal nevus syndrome with schwann cell. Epidermal nevi can be lightened by using the qswitched alexandrite nd. Epidermal nevi en are congenital hamartomas of embryonal ectodermal origin classified on the basis of their main component. Most epidermal naevi remain unchanged in adulthood and do not cause any problems. However, it is inappropriate to use these terms to denote a single disorder or interchangeably with epidermal nevus syndromes. Epidermal nevus syndrome also known as feuerstein and mims syndrome, and solomons syndrome. Despite a growing body of knowledge, the full spectrum of the syndrome remains incompletely characterized. Keratinocytic epidermal nevus ken syndrome is a form of epidermal nevus syndrome involving a keratinocytic epidermal nevus characterized by epidermal hyperplasia without enlarged and malformed sebaceous glands. Apr 26, 2014 prevalence, epidemiology and etiology. This is thought to be a variant form of sebaceous naevus naevus sebaceous and is a hamartomatous tumour characterised by hyperplasia of the epidermis andor its associated components. The patient presented with growth retardation, bone pain, and generalized muscle weakness. We present 4 cases of becker nevus syndrome in which becker nevus was associated with ipsilateral breast hypoplasia and, less consistently, other abnormalities. Ilven syndrome and prescribed topical keratolytics and topical corticosteroids.
We report two cases with severe primary brain involvement, seizures, mental retardation, and facial hemihypertrophy. Epidermal nevus genetic and rare diseases information. Update on epidermal nevi and associated syndromes springerlink. Several authors have commented that the term epidermal naevus syndrome is outdated now that the genetic causes are known for many of the disorders. Most reported abnormalities have been in the central nervous system cns, skeletal system, eyes, and oral. Epidermal nevi are congenital lesions that affect about 1 in 1,000 people. Pubmed is a searchable database of medical literature and lists journal articles that discuss inflammatory linear verrucous epidermal nevus. The diagnosis of epidermal nevus syndrome should be considered when there is a nevus with associated developmental abnormality of the central nervous system, eyes, or musculoskeletal systems. The epidermal nevus syndrome jama dermatology jama. Schimmelpennigfeuersteinmims 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.
Listing a study does not mean it has been evaluated by the u. Affected individuals have one or more nevi that vary in size. Epidermal nevi show a prevalence of about one in 1,000 live births and affect males and females equally. Nevus unius lateris, bilateral linear epidermal nevi, and ichthyosis hystrix may all be considered clinical variants of epidermal nevi.
We examined the clinicopathologic features of 2 patients. The epidermal nevus syndrome ens is a rare multisystemic syndrome. Two other terms that have been used to describe enss are organoid nevus syndrome and keratinocytic nevus syndrome. A rare, syndromic nevus characterized by the association of typically unilateral, closely arranged, linear, slightly elevated, multiple, nevus comedonicus lesions located usually on the face, neck, trunk or limbs with or without a central, dark, firm, hyperkeratotic plug and secondary acneiform lesions with extracutaneous ocular, skeletal. They can be flat, tan patches of skin, or raised, velvety patches and may become thicker and darker and develop a wartlike verrucous appearance. 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.
Epidermal nevus article about epidermal nevus by the free. Epidermal nevus can resemble other proliferations with papillomatous epidermal architecture, and clinical information is often necessary to make the distinction seborrheic keratosis. We emphasize the superiority of magnetic resonance imaging over other radiographic studies in outlining the. 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 abnormalities. Epidermal nevus and nevus sebaceous basicmedical key. The nevi plural form of nevus are seen at birth or develop in early childhood.
Epidermal nevus syndrome, international journal of. We identified five patients with the organoid nevus syndrome. A study of krn23 in subjects with tumorinduced osteomalacia or epidermal nevus syndrome the safety and scientific validity of this study is the responsibility of the study sponsor and investigators. The associated extracutaneous manifestations are similar to those seen in nevus sebaceus syndrome. It can sometimes take a linear or swirled pattern on the skin. These nevi have been classified according to their predominant component. Epidermal nevus syndromes nord national organization for. Epidermal nevus syndrome is a rare neurocutaneous syndrome consisting of epidermal nevi and a variety of congenital defects that affect the cns, connective tissue, and ocular, skeletal, cardiac, genitourinary, and even endocrine systems 14.
Neuropathological study ryoichi sakuta, md, hisashi aikawa, md, sachio takashima, md and shigeo ryo, md a neuropathologic examination of a 5yearboy with epidermal nevus syndrome and hemimegalencephaly revealed 1 left hemimegalencephaly with an increased volume of the white matter, and 2 cerebral. Syndromes associated with epidermal nevi also are described. This article highlights the varied clinical and histologic features of epidermal nevi, discusses recent data on pathogenesis, and provides an update on treatment options. There are several different types of epidermal nevi, including keratinocyte epidermal nevi, nevus sebaceous, nevus comedonicus, and becker nevus. These syndromes may involve the eyes, bones or nervous system. Pathologic descriptions of the central nervous system. Epidermal nevus syndrome definition of epidermal nevus. A study of krn23 in subjects with tumorinduced osteomalacia. Epidermal nevus syndrome is a kind of neurocutaneous syndrome that is associated with epidermal nevus and a variety of congenital cns disorders. Ens occurs in a sporadic fashion and many different mosaic phenotypes are expressed. Organoid nevus syndrome is a general term that could be applied to at least five different types of ens. Keratinocytic epidermal nevus syndrome kens is a complex disorder not only characterized by the presence of epidermal nevi but also by abnormalities in the internal organ systems. 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. We report three cases with mr imaging and magnetoencephalography findings.
These entities are united by their association with epidermal nevi and extracutaneous abnormalities. Jun 12, 2017 often, epidermal nevi follow a pattern on the skin known as the lines of blaschko. Epidermal nevus syndrome is one of the sporadic congenital hamartoses in which neurologic abnormalities have been frequently reported. We report the case of a 7yearold thai boy with hypophosphatemic rickets in a rare association with the epidermal nevus syndrome. The term epidermal nevus syndrome ens was proposed by solomon et al. Mar 30, 2016 a study of krn23 in subjects with tumorinduced osteomalacia or epidermal nevus syndrome the safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Clinical manifestations include mental retardation, seizures, and movement disorders that are caused by a wide range of neuropathologic lesions. They may present in a variety of forms beckers naevus, verrucous epidermal naevus, inflammatory linear verrucous epidermal naevus, naevus comedonicus, eccrine. Nevus sebaceus syndrome nord national organization for. Epidermal nevus syndrome and its subtypes, nevus sebaceous syndrome syn. 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.
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