Nevus sebaceus syndrome nord national organization for. Epidermal nevus syndrome and didymosis aplasticosebacea. The skin lesions appear as small, slightly scaly, pimples papules made of the thickened outer layer of the skin hyperkerotosis with a rough. Phacomatosis pigmentokeratotica ppk is a rare epidermal nevus syndrome characterized by the. Update on epidermal nevi and associated syndromes pdf. Epidermal nevus syndrome an overview sciencedirect topics. The syndrome is sometimes transmitted to offspring by autosomal dominant inheritance. 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. 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. 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. Pdf epidermal nevus syndrome associated with adnexal.
Systemic epidermal nevus with involvement of the oral mucosa due. 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 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. A second case of gobello nevus syndrome fulltext case. Congenital melanocytic nevi, cafe au lait macules and. 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. First reported case of epidermal nevus syndrome with a triad of.
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. It affects the skin, endocrine system, nervous system, eyes, and bones. Farschtschi s, mautner vf, hollants s, hagel c, spaepen m, schulte c, et al. The association of multiple cutaneous abnormalities, including multiple nevi, hemangiomas, andor skin cancers, with scattered skeletal, neurological, urological, ophthalmic, and vascular malformations. 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. Sometimes, epidermal nevi may involve only the keratinocytes cells on the outermost layer of skin. A dysplastic nevus or atypical mole often grows as the result of exposure to sunlight and may become malignant. Melanoma is a malignant tumor that can appear anywhere on the body and is considered the most serious of all skin cancers. Cutaneous skeletal hypophosphatemia syndrome cshs is a multilineage somatic mosaic rasopathy. Epidermal nevus syndromes nord national organization for. 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 genetic and rare diseases information center. Epidermal nevus syndrome definition of epidermal nevus. 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. An epidermal nevus syndrome with cerebral involvement caused by a mosaic fgfr3 mutation. 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. Syndromes associated with epidermal nevi also are described.
Lesions are usually present at birth and appear as waxy, yelloworange or tan, hairless plaques picture 2c. However, the term epidermal nevus syndrome could be correctly applied to several different disorders. Two other forms of benign melanocytic proliferation, nevus spilus and spitz nevus, are caused by somatic mutation in the hras gene on chromosome 11p15. We identified five patients with the organoid nevus syndrome. Epidermal nevus syndrome ens is a term used to describe the occurrence of an epidermal nevus in association with other extracutaneous. Giant congenital melanocytic nevus genetics home reference. Papular epidermal nevi with skyline basal cell layers syndrome. It presents as a group of verrucous, closely grouped, skincolored to brown papules often in a linear arrangement following the lines of blaschko. 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. The epidermal nevus syndrome jama dermatology jama network. 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.
Affected individuals have one or more nevi that vary in size. Neurologic complications of the epidermal nevus syndrome jama. Becker nevus syndrome genetic and rare diseases information. The epidermal naevus syndromes usually arise sporadically, with the exception of child syndrome, which is familial. 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. 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. 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. Mar 17, 2020 basal cell nevus syndrome refers to a group of defects caused by a rare genetic condition.
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. Epidermal nevus syndrome associated with hypophosphatemic. Epidermal nevus en is a benign hamartomatous growth. 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. Because the diagnosis of melanoma at an early stage is of great prognostic relevance. Epidermal nevus syndromebone abnormalitiesfollicular hyperkeratosisclinodactylytufted hair folliculitis.
Epidermal nevus can resemble other proliferations with papillomatous epidermal architecture, and clinical information is often necessary to make the distinction seborrheic keratosis. Solomon defines epidermal nevus syndrome as a sporadic neurocutaneous linkage of congenital ectodermal defects in the skin, brain, eyes, andor skeleton. Atypical mole syndrome is the most important phenotypic risk factor for developing cutaneous melanoma, a malignancy that accounts for about 80% of deaths from skin cancer. There are several variations of en including localized nevus unius lateris. There is an inflammatory variant, referred to as inflammatory linear verrucous epidermal nevus ilven, which is typically erythematous and. Involvement of other organs, especially the eyes, may also occur, but is not obligatory. The penetrance for melanoma in kindreds with cdkn2a mutations is estimated at 58% to 92% by 80 years of age and varies with geography. Linear nevus sebaceous syndrome lnss is a condition characterized by 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.
Lnss, also called epidermal nevus syndrome, is a rare, sporadic neurocutaneous syndrome characterized by a linear sebaceous nevus of jadassohn, mental retardation, and, seizures. It is present from birth congenital or is noticeable soon after birth. Pdf epidermal nevi are hamartomatous lesions that are typically present at birth, but can occur anytime during childhood and may rarely appear in. Histology shows that nevus sebaceous is a hamartoma consisting of epidermal, sebaceous, and apocrine elements. There are several different types of epidermal nevi, including keratinocyte epidermal nevi, nevus sebaceous, nevus comedonicus, and becker nevus. 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 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. Nevus unius lateris, bilateral linear epidermal nevi, and ichthyosis hystrix may all be considered clinical variants of epidermal nevi. Sep 26, 2012 there are several different types of epidermal nevi, including keratinocyte epidermal nevi, nevus sebaceous, nevus comedonicus, and becker nevus. Dysplastic nevus syndrome is inherited in an autosomal dominant manner. 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. Dysplastic nevus syndrome an overview sciencedirect topics. The specific symptoms and severity can vary greatly from one person to another. 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. Keratinocytic epidermal nevus syndrome with schwann cell proliferation, lipomatous tumour and mosaic kras mutation. Additional and relevant useful information for epidermal nevus.
The two most frequent, keratinocytic nevus syndrome and linear sebaceous nevus syndrome, also correspond to the neurological phenotypes. Mar 26, 2020 an estimated one third of individuals with epidermal nevi have involvement of other organ systems. Update on epidermal nevi and associated syndromes springerlink. Apr 26, 2014 prevalence, epidemiology and etiology.
The results indicate that the systemic keratinocytic nevus syndrome in the present patient is caused by mosaicism of the r248c fgfr3 mutation. Epidermal nevus syndrome associated with adnexal tumors, spitz nevus, and hypophosphatemic vitamin dresistant rickets. The ocular findings were studied in more detail, with emphasis on the epibulbar and fundus lesions. Epidermal nevi show a prevalence of about one in 1,000 live births and affect males and females equally. Four had a classic sebaceous nevus in the facial and scalp area, and 2 had seizures and arachnoid cysts. Several authors have commented that the term epidermal naevus syndrome is outdated now that the genetic causes are known for many of the disorders. Pdf epidermal nevus syndrome associated with unusual.
The nevus may be small in infants, but it will usually grow at the same rate the body. Epidermal nevi are typically seen at birth or develop in early childhood. Consider an epidermal nevus if a lesion resembles a seborrheic keratosis but is in a child or young individual, or is described as. The penetrance in cdkn2a mutation carriers for pancreatic cancer has been estimated to be 17% by 75 years of age. Epidermal nevus syndrome radiology reference article. 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. 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. 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.
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