Although the lesions usually become apparent during adolescence, they are present from birth and represent part of the spectrum of socalled epidermal nevus syndromes. Nevus sebaceous ns is a hamartoma of the epidermis, hair follicles, and sebaceous and apocrine glands. They result from genetic mosaicism, and activating fgfr3 and pik3ca mutations have been implicated. Involvement of other organs, especially the eyes, may also occur, but is not obligatory.
Epidermal nevus syndrome also known as feuerstein and mims syndrome, and solomons syndrome. 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. Get a printable copy pdf file of the complete article 4. Epidermal nevus syndromes nord national organization for. However, sometimes people with an epidermal nevus also have problems in other body systems, such as the brain, eyes, or bones. The treatment of ens is directed toward the specific symptoms that are apparent in. 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.
Epidermal nevi are benign, hamartomatous growths of the skin that are present at birth. Pdf epidermal nevus syndrome associated with unusual. Dec 30, 2019 the linear epidermal nevus and epidermal nevus syndrome are discussed separately. They proposed the term epidermal nevus syndrome for cases combining these features with cutaneous hemangiomas, multiple nevus cell nevi, cafeaulait spots, and other pigmentary changes. Four had a classic sebaceous nevus in the facial and scalp area, and 2 had seizures and arachnoid cysts. Sometimes, people with an epidermal nevus may have problems in other body systems, such as the brain, eyes, or bones.
Full text full text is available as a scanned copy of the original print version. The epidermal nevus syndrome jama dermatology jama network. May 07, 2018 however, epidermal nevus syndrome is much more difficult to treat to a complete resolution, due to a manifestation of the condition, beyond skin. Epidermal nevus syndrome radiology reference article. 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.
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. The treatment of choice for small epidermal nevi is surgical excision. Mar 26, 2020 an estimated one third of individuals with epidermal nevi have involvement of other organ systems. Renal aberrancies associated with this syndrome include nephroblastoma, hamartomas, hypoplasia, and renal agenesis. The purpose of the study is to evaluate the efficacy and safety of krn23 after its 48week once every 4 weeks repeated subcutaneous administration to japanese and korean patients with tumorinduced osteomalacia or epidermal nevus syndrome by a multicenter, openlabel, intraindividual dose adjustment study. Update on epidermal nevi and associated syndromes pdf. Epidermal nevus syndrome, also called the linear nevus sebaceous syndrome, refers to several disorders that have in common an epidermal nevus and neurological manifestations such as seizures or hemimegalencephaly. Epidermal nevus syndrome and its subtypes, nevus sebaceous syndrome syn.
Epidermal nevi en are congenital hamartomas of ectodermal origin classified on the basis of their main component. Epidermal nevi are developmental disorders characterized by. Full text is available as a scanned copy of the original print version. Epidermal nevi and nevus sebaceous the color atlas of. It presents as a group of verrucous, closely grouped, skincolored to brown papules often in a linear arrangement 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. 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. Knowledge of the molecular underpinnings of many epidermal nevi and epidermal nevus syndrome has expanded rapidly in recent years. Epidermal nevus syndromes enss are a group of rare complex disorders. Read more about epidermal naevus and its syndromes. However, the term epidermal nevus syndrome could be correctly applied to several different disorders. There are four distinct epidermal nevus syndromes recognizable by the different types of associated epithelial nevi. They may present in a variety of forms beckers naevus, verrucous epidermal naevus, inflammatory linear verrucous epidermal naevus, naevus comedonicus, eccrine naevus, apocrine naevus and white.
Epidermal nevi en are congenital hamartomas of embryonal ectodermal origin classified on the basis of their main component. Tumorinduced osteomalacia tio and epidermal nevus syndrome ens are rare diseases of excess fibroblast growth factor 23 fgf23 that are characterized by hypophosphatemia secondary to phosphaturia and impaired active vitamin d synthesis that results in bone pain, osteomalacia, fractures, and muscle weakness. Epidermal nevus syndrome associated with unusual neurological, ocular, and skeletal features. Lnss, also called epidermal nevus syndrome, is a rare, sporadic neurocutaneous syndrome characterized by a linear sebaceous nevus of jadassohn, mental retardation, and, seizures. Pdf epidermal nevi are hamartomas that are characterized by hyperplasia of the epidermis and. The epidermal nevus syndrome ens is a rare multisystemic syndrome. We report a female patient with a systemic keratinocytic nevus also involving the oral mucosa. The syndrome is sometimes transmitted to offspring by autosomal dominant inheritance.
It is a syndrome linked to mosaicism, with many of them occurring exclusively sporadically, but some with known hereditary traits 1 there are nine well defined epidermal nevus syndromes. Several authors have commented that the term epidermal naevus syndrome is outdated now that the genetic causes are known for many of the disorders. Identification of a novel s249c fgfr3 mutation in a keratinocytic epidermal nevus syndrome. There are several different epidermal nevus syndromes characterized by the type of epidermal nevus involved. Epidermal nevi syndrome ens is a multisystem neurodermatological disorder in which epidermal nevi may be associated with neurological, skeletal, ocular and other cutaneous anomalies as well as. Cutaneous skeletal hypophosphatemia syndrome cshs is a multilineage somatic mosaic rasopathy. An inflammatory linear verrucous epidermal nevus ilven. We identified five patients with the organoid nevus syndrome. Linear nevus sebaceous syndrome genetic and rare diseases. The associated extracutaneous manifestations are similar to those seen in nevus sebaceus syndrome. We present 4 cases of becker nevus syndrome in which becker nevus was associated with ipsilateral breast hypoplasia and, less consistently, other abnormalities. Epidermal nevus syndrome is defined as a combination of nevoid skin alterations, epileptic seizures, and psychomotoric retardation.
An epidermal nevus syndrome with cerebral involvement caused by a mosaic fgfr3 mutation. Solomon defines epidermal nevus syndrome as a sporadic neurocutaneous linkage of congenital ectodermal defects in the skin, brain, eyes, andor skeleton. The syndrome is sometimes transmitted to offspring by. Clinical presentations include seizures, paresis, mental retardation, and developmental delay. There are several variations of en including localized nevus unius lateris. Six different syndromes with epidermal nevi as part of them have been. Update on epidermal nevi and associated syndromes springerlink. Ns is also called sebaceous nevus and nevus sebaceous of jadassohn figure 1452. The linear epidermal nevus and epidermal nevus syndrome are discussed separately. 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. Common terms, including mole, birthmark, and beauty mark, are used to describe nevi, but these terms do not distinguish specific. Ophthalmic features of the organoid nevus syndrome.
They were found in ten of 12 patients examined to be accompanied by congenital skeletal disorders. Molecular genetic analysis revealed a mosaicism of the fgfr3 hotspot mutation r248c in. Epidermal nevus syndromes nord national organization. Epidermal nevus syndrome is a disorder first proposed in 1968 by solomon although no clear definition has yet presented, it is generally understood to be a rare, nonhereditary congenital disorder involving an epidermal nevus, anomalies of cns, eyes and osseous tissues 1, complications are present in about 10 of syndrome. Systemic epidermal nevus with involvement of the oral. Pdf inflammatory linear verrucous epidermal nevus syndrome. Keratinocytic epidermal nevus syndrome with schwann cell proliferation, lipomatous tumour and mosaic kras mutation. Despite a growing body of knowledge, the full spectrum of the syndrome remains incompletely characterized. An estimated one third of individuals with epidermal nevi have involvement of other organ systems.
Epidermal nevus genetic and rare diseases information. However, epidermal nevus syndrome is much more difficult to treat to a complete resolution, due to a manifestation of the condition, beyond skin. Affected individuals have one or more nevi that vary in size. They can be flat, tan patches of skin, or raised, velvety patches and may become thicker and darker and develop a wartlike verrucous appearance. 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. Additional and relevant useful information for epidermal nevus. Farschtschi s, mautner vf, hollants s, hagel c, spaepen m, schulte c, et al. Epidermal nevus syndrome is a heterogeneous group of disorders characterized. Nevus unius lateris, bilateral linear epidermal nevi, and ichthyosis hystrix may all be considered clinical variants of epidermal nevi. Focal thickening of the calvarium, hypoplasia of the white matter, cortical calcifications, and a leptomeningeal drape. Epidermal nevus syndrome associated with ocular symblepharon. An epidermal naevus usually arises on the trunk and limbs and is uncommon on the face or scalp.
Mr of intracranial involvement stefania lazzeri, 1 mario mascalchi,2 martino cellerini, 1 maria grazia martinetti,3 and giancarlo dal pozzo1 summary. Epidermal nevi are typically seen at birth or develop in early childhood. Pdf epidermal nevus syndrome ens is a rare disease, the pathogenesis of which is largely elusive. Epidermal nevus syndrome is a broad term encompassing several disease processes. 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. Get a printable copy pdf file of the complete article 371k, or click on a page image below to browse page by page. The association of multiple cutaneous abnormalities, including multiple nevi, hemangiomas, andor skin cancers, with scattered skeletal, neurological, urological, ophthalmic, and vascular malformations. 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 urogenital systems. 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. Epidermal nevus syndromes enss are a group of rare complex disorders characterized by the presence of skin lesions known as epidermal nevi associated with additional extracutaneous abnormalities, most often affecting the brain, eye and skeletal systems.
These entities are united by their association with epidermal nevi and extracutaneous abnormalities. Articles from proceedings of the royal society of medicine are provided here. Epidermal nevus syndrome is a kind of neurocutaneous syndrome that is associated with epidermal nevus and a variety of congenital cns disorders. It is usually sporadic, but familial cases have been reported. 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. The defect causing the skin lesions may also result in disorders of. A unilateral linear nevus is present on the skin of the face or scalp. Epidermal nevus syndrome an overview sciencedirect topics. There are several different types of epidermal nevi, including keratinocyte epidermal nevi, nevus sebaceous, nevus comedonicus, and becker nevus. In these cases, the affected individual has a condition called an epidermal nevus syndrome. This article highlights the varied clinical and histologic features of epidermal nevi, discusses recent data on pathogenesis, and provides an update on treatment options. Sep 26, 2012 there are several different types of epidermal nevi, including keratinocyte epidermal nevi, nevus sebaceous, nevus comedonicus, and becker nevus. The term epidermal nevus syndrome ens was proposed by solomon et al. There are several types of epidermal nevus that are defined in part by the type of.
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. Six different syndromes with epidermal nevi as part of. The nevi plural form of nevus are seen at birth or develop in early childhood. Inflammatory linear verrucous epidermal nevus syndrome with its polymorphic presentation a rare case report. The epidermal nevus syndrome jama dermatology jama. Epidermal nevus syndrome associated with ocular symblepharon and gum hypertrophy a rare variant. Nevus or nevi if multiple is a nonspecific medical term for a visible, circumscribed, chronic lesion of the skin or mucosa. Figure 1453 can be part of an epidermal nevus syndrome but some affected persons only have the cutaneous en. The ocular findings were studied in more detail, with emphasis on the epibulbar and fundus lesions. Epidermal nevi en represent benign congenital skin lesions following the lines of blaschko. Epidermal nevus en is a benign hamartomatous growth. Sometimes, epidermal nevi may involve only the keratinocytes cells on the outermost layer of skin.
Nevus sebaceus syndrome nord national organization for. Neuroimaging features of epidermal nevus syndrome american. Epidermal nevus syndrome ens, also known as solomons syndrome or feuerstein and mims syndrome, represent a group of distinct disorders related to the presence of epidermal nevi and extracutaneous anomalies. Syndromes associated with epidermal nevi also are described.
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. Epidermal nevus article about epidermal nevus by the. Epidermal nevus syndrome definition of epidermal nevus. Neurologic complications of the epidermal nevus syndrome jama. Links to pubmed are also available for selected references. Epidermal nevus and epidermal nevus syndrome uptodate. 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. Patients present with an epidermal nevus, but are also affected by several developmental anomalies, most commonly of the brain, eyes and skeleton.
These syndromes may involve the eyes, bones or nervous system. Solomon defines epidermal nevus syndrome as a sporadic neurocutaneous linkage of congenital ectodermal defects in the skin, brain, eyes. We report three cases with mr imaging and magnetoencephalography findings. An epidermal nevus is a noncancerous benign patch of skin caused by an overgrowth of skin cells. The specific symptoms and severity can vary greatly from one person to another. The epidermal naevus syndromes usually arise sporadically, with the exception of child syndrome, which is familial.
The majority are linear epidermal naevi they form a line, usually just on one side of the body unilateral, also known as naevus unis lateralis. The epidermal nevus syndrome is a neurocutaneous disorder characterized by distinctive skin lesions and often serious somatic and central nervous system. Systematized verrucous epidermal nevus a case report pdf. Effects of krn23, an antifgf23 antibody in patients with. Jun 12, 2017 often, epidermal nevi follow a pattern on the skin known as the lines of blaschko. Five of these patients also had central nervous system cns.
166 1346 142 846 730 362 159 892 780 891 437 69 1453 369 1571 1413 444 1155 1155 471 1249 1408 958 1261 763 720 1148 1124 888 1191 971 799 22 1489 986 781 1070 861 1089 1141 187 602 370 232 209 879 1397 500 170 569 1468