Linear epidermal nevus and nevus sebaceus syndromes. Epidermal nevus syndromes nord national organization for. The two most frequent, keratinocytic nevus syndrome and linear sebaceous nevus syndrome, also correspond to the neurological phenotypes. Mar 26, 2020 papillary transitional cell bladder carcinoma and systematized epidermal nevus syndrome. The associated extracutaneous manifestations are similar to those seen in nevus sebaceus syndrome. We examined the clinicopathologic features of 2 patients. An epidermal naevus is due to an overgrowth of the epidermis. Becker nevus, becker nevus syndrome, breast hypoplasia, epidermal nevus. Individuals with en, also often have other skin lesions, such as cafeaulait macules pigmented birthmarks, vascular abnormalities, and melanocytic or hypopigmented. The epidermal nevus syndrome jama dermatology jama. 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. Epidermal nevi show a prevalence of about one in 1,000 live births and affect males and females equally. Intraoral manifestations in a patient with epidermal nevus.
Epidermal nevi can occur in isolation or in association with internal abnormalities. 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. Lesions are present at birth 50% or develop during childhood mostly in the first year of life. An epidermal nevus is a noncancerous benign patch of skin caused by an overgrowth of skin cells. This article highlights the varied clinical and histologic features of epidermal nevi, discusses recent data on pathogenesis, and provides an update on treatment options. May 07, 2018 epidermal nevus can be present as epidermal nevus syndrome. There are several different epidermal nevus syndromes characterized. Keratinocytic epidermal nevus syndrome with schwann cell. Thus, the epidermal nevus syndrome may be best viewed as a heterogeneous congenital disorder that includes both the keratinocytic epidermal nevus syndrome and sebaceous nevus syndrome. This child also had pigmentary abnormalities characteristic of the epidermal nevus syndrome.
However, sometimes people with an epidermal nevus also have problems in other body systems, such as the brain, eyes, or bones. Pathologic descriptions of the central nervous system. The term epidermal nevus syndrome ens has been used to describe the association of en with extracutaneous anomalies. Schimmelpenning first detailed epidermal nevi with neurologic anomalies.
Several authors have commented that the term epidermal naevus syndrome is outdated now that the genetic causes are known for many of the disorders. Epidermal nevus can be present as epidermal nevus syndrome. Epidermal nevus syndrome ens is a heterogeneous group of neurocutaneous disorders characterized by mosaicism and epidermal nevi found in association with various systemic abnormalities. Nevus unius lateris, bilateral linear epidermal nevi, and ichthyosis hystrix may all be considered clinical variants of epidermal nevi. The epidermal naevus syndromes usually arise sporadically, with the exception of child syndrome, which is familial. The epidermal nevus syndrome jama dermatology jama network. Molecular genetic analysis revealed a mosaicism of the fgfr3 hotspot mutation r248c in. 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 abnormality arises from a defect in the ectoderm, the outer layer of the embryo that gives rise to epidermis and neural tissue. Sometimes, people with an epidermal nevus may have problems in other body systems, such as the brain, eyes, or bones. The skin lesions most often referred to as epidermal naevi are due to an. Affected individuals have one or more nevi that vary in size. Linear nevus sebaceous syndrome lnss, also known as epidermal nevus syndrome ens or schimmelpenningfeuersteinmims syndrome, is a rare, highly variable congenital sporadic disorder that can feature, besides papillomatous epidermal hyperplasia and excess sebaceous glands, brain and eye abnormalities, focal or generalized skeletal. Epidermal nevi en represent benign congenital skin lesions following the lines of blaschko.
Two other terms that have been used to describe enss are organoid nevus syndrome and keratinocytic nevus syndrome. There are several different epidermal nevus syndromes characterized by the type of epidermal nevus involved. We report three cases with mr imaging and magnetoencephalography findings. 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 originate from pluripotential germinative cells in the basal layer of the embryonic epidermis. Pdf epidermal nevus syndrome and didymosis aplasticosebacea. The syndrome is sometimes transmitted to offspring by. Epidermal nevus syndrome is often termed the solomon syndrome.
Linear epidermal nevus syndrome is a congenital neurocutaneous disorder characterized by linear epidermal nevus with significant involvement of the nervous, ophthalmologic, andor skeletal systems. Update on epidermal nevi and associated syndromes pdf. Papillary transitional cell bladder carcinoma and systematized epidermal nevus syndrome. 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. Syndromes associated with epidermal nevi also are described. An epidermal nevus syndrome with cerebral involvement. Jan 04, 2017 linear nevus sebaceous syndrome lnss is a condition characterized by the association of a large, linear sebaceous nevus type of birthmark with a broad range of abnormalities that may affect every organ system, including the central nervous system cns. Solomon defines epidermal nevus syndrome as a sporadic neurocutaneous linkage of congenital ectodermal defects in the skin, brain, eyes, andor skeleton. Congenital rhabdomyosarcoma, central precocious puberty, hemihypertrophy and hypophosphatemic rickets associated with epidermal nevus syndrome. 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. The varying forms of en can be associated with syndromes that have unique clinical constellations. The epidermal nevus syndrome ens is a sporadic neurocutaneous disorder that consists of epidermal nevi and congenital anomalies involving the brain and other systems.
An epidermal nevus syndrome with cerebral involvement caused. A study of krn23 in subjects with tumorinduced osteomalacia. The term epidermal nevus syndrome ens was proposed by solomon et al. A unilateral linear nevus is present on the skin of the face or scalp. Epidermal nevus syndrome and its subtypes, nevus sebaceous syndrome syn. They can be flat, tan patches of skin, or raised, velvety patches and may become thicker and darker and develop a wartlike verrucous appearance.
We present 4 cases of becker nevus syndrome in which becker nevus was associated with ipsilateral breast hypoplasia and, less consistently, other abnormalities. Apr 26, 2014 prevalence, epidemiology and etiology. We report a female patient with a systemic keratinocytic nevus also involving the oral mucosa. Skin biopsy was compatible with verrucous epidermal nevus while the biopsy of the ocular lesion. Epidermal nevus genetic and rare diseases information. Unlimited viewing of the articlechapter pdf and any associated supplements and figures. 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. From among over 60 patients with ens presenting with neurologic manifestations, we identified 17 who had hemimegalencephaly based on pathologic or radiologic studies. There are several types of epidermal nevus that are defined in part by the type of epidermal cell. 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 nevi are typically seen at birth or develop in early childhood. Linear epidermal nevus syndrome and linear sebaceus nevus syndrome are rare neurocutaneoussyndromes characterized by epidermal nevi, epilepsy, and mental retardation. The question is again asked whether patients with epidermal nevi have an increased incidence of tumors. The epidermal naevus syndromes refer to the association of a keratinocytic or.
Systemic epidermal nevus with involvement of the oral. Epidermal nevus syndrome associated with hypophosphatemic. 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. Epidermal nevus syndrome is a kind of neurocutaneous syndrome that is associated with epidermal nevus and a variety of congenital cns disorders. In these cases, the affected individual has a condition called an epidermal nevus syndrome. Epidermal nevus syndrome also known as feuerstein and mims syndrome, and solomons syndrome. 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 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. Five of these patients also had central nervous system cns. Shahgholi e, mollaian m, haghshenas z, honarmand m.
Epidermal nevus syndromes include beckers nevus syndrome, nevus sebaceous syndrome, nevus comedonicus syndrome, proteus syndrome, and child syndrome. Epidermal nevus syndrome ens is a rare disease, the pathogenesis of which is largely elusive. The defect causing the skin lesions may also result in disorders of. Clinical presentations include seizures, paresis, mental retardation, and developmental delay. Intraoral manifestations in a patient with epidermal nevus syndrome the journal of contemporary dental practice, julyaugust 20. Epidermal nevus syndrome an overview sciencedirect topics. 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. An epidermal nevus syndrome with cerebral involvement caused by a mosaic fgfr3 mutation. However, it is inappropriate to use these terms to denote a single disorder or interchangeably with epidermal nevus syndromes. They result from genetic mosaicism, and activating fgfr3 and pik3ca mutations have been implicated. It presents as a group of verrucous, closely grouped, skincolored to brown papules often in a linear arrangement following the lines of blaschko.
They were found in ten of 12 patients examined to be accompanied by congenital skeletal disorders. Linear nevus sebaceous syndrome genetic and rare diseases. The epidermal nevus syndrome ens is an uncommon neurocutaneous disorder in which epidermal nevi are found in association with congenital abnormalities of the brain, eye, andor skeleton. Epidermal nevus syndrome definition of epidermal nevus. The nevi plural form of nevus are seen 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. A child with an epidermal nevus was diagnosed at the age of 15 months as having an embryonal rhabdomyosarcoma of the bladder.
Neuroimaging features of epidermal nevus syndrome american. Cutaneous skeletal hypophosphatemia syndrome cshs is a multilineage somatic mosaic rasopathy. Consider an epidermal nevus if a lesion resembles a seborrheic keratosis but is in a child or young individual, or is described as. 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 and the epidermal nevus syndrome journal of the. 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. 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. 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. Pdf neuroimaging features of epidermal nevus syndrome.
Jun 12, 2017 often, epidermal nevi follow a pattern on the skin known as the lines of blaschko. Associated brain and neurologic abnormalities included gyral. Beckers nevus syndrome is an association of beckers nevus with unilateral breast hypoplasia and muscle, skin, andor skeletal abnormalities. There are several variations of en including localized nevus unius lateris. Listing a study does not mean it has been evaluated by the u.
There are several different types of epidermal nevi, including keratinocyte epidermal nevi, nevus sebaceous, nevus comedonicus, and becker nevus. Epidermal nevus syndromes nord national organization. Epidermal nevus en is a benign hamartomatous growth. The commonest site of involvement was the head and neck, and % of patients had. We here report a case of a 15 yearold female who presented with bilateral beckers nevus over her groins, thighs, vulva, and in front of the neck from the age of 5 years. Many syndromes may be associated with cutaneous findings of en. Nevus sebaceus syndrome nord national organization for. Laurafloressarnat, in handbook of clinical neurology, 20.
The association of multiple cutaneous abnormalities, including multiple nevi, hemangiomas, andor skin cancers, with scattered skeletal, neurological, urological, ophthalmic, and vascular malformations. Pdf epidermal nevus syndrome ens is a rare disease, the pathogenesis of which is largely elusive. 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. He was a product of a fullterm, uneventful pregnancy. These disorders, as are all primary neurocutaneous syndromes, are neurocristopathies. Case reports patient 1 this monthold male patient presented with left face epidermal nevus and right hemiparesis complicated with complex partial seizure onset. Knowledge of the molecular underpinnings of many epidermal nevi and epidermal nevus syndrome has expanded rapidly in recent years.
Nevus or nevi if multiple is a nonspecific medical term for a visible, circumscribed, chronic lesion of the skin or mucosa. Update on epidermal nevi and associated syndromes springerlink. Pdf epidermal nevus syndrome associated with unusual. 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. Epidermal nevus and rhabdomyosarcoma jama dermatology. An epidermal naevus usually arises on the trunk and limbs and is uncommon on the face or scalp. These syndromes may involve the eyes, bones or nervous system.
Beckers nevus syndrome is a part of epidermal nevus syndrome, which is a disease complex of epidermal nevi and developmental abnormalities of different organ systems. A small number of cases with kens are molecularly characterized and reported in the literature with somatic activating ras, fgfr3 and pik3ca mutations. They are thought to represent forms of mosaicism, resulting from postzygotic mutations or other genetic alteration in embryonic cells destined to populate a particular area of the epidermis. Epidermal nevus syndrome associated with unusual neurological. Common terms, including mole, birthmark, and beauty mark, are used to describe nevi, but these terms do not distinguish specific.
Clinical manifestations include mental retardation, seizures, and movement disorders that are caused by a wide range of neuropathologic lesions. The specific symptoms and severity can vary greatly from one person to another. Epidermal nevus can resemble other proliferations with papillomatous epidermal architecture, and clinical information is often necessary to make the distinction seborrheic keratosis. 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.
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