Neurologic complications of the epidermal nevus syndrome jama. Epidermal nevus syndrome is defined as a combination of nevoid skin alterations, epileptic seizures, and psychomotoric retardation. Dysplastic nevus syndrome is inherited in an autosomal dominant manner. Congenital melanocytic nevi epidermal and sebaceous nevi beckers nevi segmental pigmentation disorder linear and whorled nevoid hyperhypomelanosis broad blaschkolinear patterned pigmentation as a marker for mccune albright syndrome pigmentation of the genitals dermal melanocytosis and when to worry. Pdf epidermal nevus syndrome ens is a rare disease, the pathogenesis of which is largely elusive. The association of multiple cutaneous abnormalities, including multiple nevi, hemangiomas, andor skin cancers, with scattered skeletal, neurological, urological, ophthalmic, and vascular malformations. This article highlights the varied clinical and histologic features of epidermal nevi, discusses recent data on pathogenesis, and provides an update on treatment options.
Nevus unius lateris, bilateral linear epidermal nevi, and ichthyosis hystrix may all be considered clinical variants of epidermal nevi. Congenital melanocytic nevi, cafe au lait macules and. There are several different types of epidermal nevi, including keratinocyte epidermal nevi, nevus sebaceous, nevus comedonicus, and becker nevus. Epidermal nevus syndrome an overview sciencedirect topics.
Epidermal nevus syndrome also known as feuerstein and mims syndrome, and solomons syndrome. Sometimes, epidermal nevi may involve only the keratinocytes cells on the outermost layer of skin. Linear nevus sebaceous syndrome lnss is a condition characterized by the. Epidermal nevus syndrome radiology reference article. It is present from birth congenital or is noticeable soon after birth. Pdf epidermal nevus syndrome associated with adnexal. Epidermal nevus syndrome and its subtypes, nevus sebaceous syndrome syn. 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. Knowledge of the molecular underpinnings of many epidermal nevi and epidermal nevus syndrome has expanded rapidly in recent years. Several authors have commented that the term epidermal naevus syndrome is outdated now that the genetic causes are known for many of the disorders. Nevus sebaceus, also called nevus sebaceus of jadassohn or organoid nevus, is a benign hamartoma of the skin, characterized by hyperplasia of the epidermis, immature hair follicles, and sebaceous and apocrine glands. 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 results indicate that the systemic keratinocytic nevus syndrome in the present patient is caused by mosaicism of the r248c fgfr3 mutation.
Nevus sebaceus syndrome nord national organization for. Epidermal nevi are developmental disorders characterized by. Histology shows that nevus sebaceous is a hamartoma consisting of epidermal, sebaceous, and apocrine elements. Giant congenital melanocytic nevus genetics home reference. Epidermal nevus syndrome definition of epidermal nevus. A second case of gobello nevus syndrome fulltext case. The epidermal nevus syndrome is a neurocutaneous disorder characterized by distinctive skin lesions and often serious somatic and central nervous system. We identified five patients with the organoid nevus syndrome. Because the diagnosis of melanoma at an early stage is of great prognostic relevance. Its incidence is estimated in epidermal nevus syndrome ens often describes a spectrum of different clinical and histologic subtypes of epidermal nevi as well as their genetic and systemic associations. Apr 26, 2014 prevalence, epidemiology and etiology. A dysplastic nevus or atypical mole often grows as the result of exposure to sunlight and may become malignant. The specific symptoms and severity can vary greatly from one person to another.
It is a term for a group of birthmarks made from cells from the outer portion of the skin the epidermis, which appear in one or many lines or in a swirled pattern. Involvement of other organs, especially the eyes, may also occur, but is not obligatory. There is an inflammatory variant, referred to as inflammatory linear verrucous epidermal nevus ilven, which is typically erythematous and. 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. Solomon defines epidermal nevus syndrome as a sporadic neurocutaneous linkage of congenital ectodermal defects in the skin, brain, eyes, andor skeleton. 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. Linear nevus sebaceous syndrome genetic and rare diseases. Melanoma is a malignant tumor that can appear anywhere on the body and is considered the most serious of all skin cancers. 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 associated with adnexal tumors, spitz nevus, and hypophosphatemic vitamin dresistant rickets. 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. Pdf epidermal nevi are hamartomatous lesions that are typically present at birth, but can occur anytime during childhood and may rarely appear in. Mar 24, 2016 beckers naevus pigmented hairy epidermal naevus beckers naevus is a patch of hyperpigmentation and hypertrichosis, which is androgendependent and so becomes more prominent after puberty in males. Pdf inflammatory linear verrucous epidermal nevus syndrome.
Epidermal nevus genetic and rare diseases information center. Dysplastic nevus syndrome an overview sciencedirect topics. There are several variations of en including localized nevus unius lateris. Identification of a novel s249c fgfr3 mutation in a keratinocytic epidermal nevus syndrome. Epidermal nevus syndrome ens is characterized by epidermal nevi associated with abnormalities involving the nervous, skeletal, and other systems. Ophthalmic features of the organoid nevus syndrome. Keratinocytic epidermal nevus syndrome with schwann cell proliferation, lipomatous tumour and mosaic kras mutation. Nevus sebaceous, a benign congenital skin lesion that preferentially affects the scalp and face, is characterized by hairless, yelloworange plaques of various size and shape. Epidermal nevus syndrome and didymosis aplasticosebacea.
Affected individuals have one or more nevi that vary in size. Giant congenital melanocytic nevus is a skin condition characterized by an abnormally dark, noncancerous skin patch nevus that is composed of pigmentproducing cells called melanocytes. Epidermal nevi show a prevalence of about one in 1,000 live births and affect males and females equally. Mar 26, 2020 an estimated one third of individuals with epidermal nevi have involvement of other 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. 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. The treatment of this type of nevus is a challenge and different methods have been used such as surgical excision, dermabrasion, cryosurgery, electrosurgery, laser surgery, co2, long pulsed nd. Epidermal nevus syndrome ens is a term used to describe the occurrence of an epidermal nevus in association with other extracutaneous. However, the term epidermal nevus syndrome could be correctly applied to several different disorders. Epidermal nevi are typically seen at birth or develop in early childhood. Four had a classic sebaceous nevus in the facial and scalp area, and 2 had seizures and arachnoid cysts.
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 term epidermal nevus syndrome ens was proposed by solomon et al. Mar 17, 2020 basal cell nevus syndrome refers to a group of defects caused by a rare genetic condition. The ocular findings were studied in more detail, with emphasis on the epibulbar and fundus lesions. 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. Update on epidermal nevi and associated syndromes pdf. Dysplastic or atypical nevi are acquired nevi that are 5 mm in diameter and have irregular or variegate pigmentation blues, browns, black, red, or white with poorly defined or irregular borders.
Papular epidermal nevi with skyline basal cell layers syndrome. The skin lesions appear as small, slightly scaly, pimples papules made of the thickened outer layer of the skin hyperkerotosis with a rough. The penetrance in cdkn2a mutation carriers for pancreatic cancer has been estimated to be 17% by 75 years of age. Systemic epidermal nevus with involvement of the oral mucosa due. Syndromes associated with epidermal nevi also are described. An epidermal nevus syndrome with cerebral involvement caused by a mosaic fgfr3 mutation. Phacomatosis pigmentokeratotica is caused by a postzygotic hras. The epidermal naevus syndromes usually arise sporadically, with the exception of child syndrome, which is familial. The syndrome is sometimes transmitted to offspring by autosomal dominant inheritance.
The epidermal nevus syndrome jama dermatology jama network. Two other forms of benign melanocytic proliferation, nevus spilus and spitz nevus, are caused by somatic mutation in the hras gene on chromosome 11p15. Giant congenital melanocytic nevus is usually defined as a melanocytic lesion present at birth that will reach a diameter. Farschtschi s, mautner vf, hollants s, hagel c, spaepen m, schulte c, et al. Epidermal nevus can resemble other proliferations with papillomatous epidermal architecture, and clinical information is often necessary to make the distinction seborrheic keratosis. First reported case of epidermal nevus syndrome with a triad of. 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. It presents as a group of verrucous, closely grouped, skincolored to brown papules often in a linear arrangement following the lines of blaschko. Becker nevus syndrome genetic and rare diseases information. Epidermal nevus syndromes nord national organization for. It affects the skin, endocrine system, nervous system, eyes, and bones.
Sep 26, 2012 there are several different types of epidermal nevi, including keratinocyte epidermal nevi, nevus sebaceous, nevus comedonicus, and becker nevus. Epidermal nevus syndrome associated with hypophosphatemic. 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. 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 syndromebone abnormalitiesfollicular hyperkeratosisclinodactylytufted hair folliculitis. Phacomatosis pigmentokeratotica ppk is a rare epidermal nevus syndrome characterized by the. Pdf epidermal nevus syndrome associated with unusual. 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.
Nevus sebaceus syndrome is a rare multisystem disorder characterized by sebaceous nevus associated with other abnormalities outside the skin, which most commonly affect the brain, eyes and bones. Lnss, also called epidermal nevus syndrome, is a rare, sporadic neurocutaneous syndrome characterized by a linear sebaceous nevus of jadassohn, mental retardation, and, seizures. Lesions are usually present at birth and appear as waxy, yelloworange or tan, hairless plaques picture 2c. The penetrance for melanoma in kindreds with cdkn2a mutations is estimated at 58% to 92% by 80 years of age and varies with geography. The two most frequent, keratinocytic nevus syndrome and linear sebaceous nevus syndrome, also correspond to the neurological phenotypes. 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. The nevus may be small in infants, but it will usually grow at the same rate the body. Epidermal nevus en is a benign hamartomatous growth. Apr 18, 2020 individuals with dysplastic nevus syndrome are believed to have an increased risk of developing melanoma. Although the true incidence of ens is unknown, it is estimated that 8% to 18% of patients with epidermal nevi have systemic disorders. Update on epidermal nevi and associated syndromes springerlink.
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