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Background
The epidermal nevus syndrome is known by many names. It is a multisystem disease with potentially devastating consequences. Most cases are sporadic though occasional cases of autosomal dominant transmission have been documented. Recent classifications have identified at least 5 distinct syndromes within this larger syndrome
OUTLINE
EPIDEMIOLOGY CHARACTERIZATION SYNONYMS Schimmelpenning syndrome
Feuerstein and Mims syndrome
Solomon syndrome
AGE RANGE-MEDIAN Birth to 40 years =
PATHOGENESIS CHARACTERIZATION Chromosomal mosaicism in two patients with epidermal verrucous nevus. Demonstration of chromosomal breakpoint.
Stosiek N, Ulmer R, von den Driesch P, Claussen U, Hornstein OP, Rott HD.
Department of Dermatology, University of Erlangen-Nuremberg, Germany.
J Am Acad Dermatol 1994 Apr;30(4):622-5 Abstract quote
Linear epidermal nevi are hamartomas that originate in embryonic ectoderm. For epidermal nevi associated with involvement of other systems, such as the skeleton or central nervous system, the term epidermal nevus syndrome has been introduced. Chromosomal aberrations have been suggested but not proven as an underlying cause.
We performed cytogenetic studies of skin cells from two unrelated men who had a verruciform epidermal nevus. Variegated translocation mosaicism with an identical breakpoint localized at the long arm of chromosome 1 was present in both patients. Normal skin and blood lymphocytes showed normal karyotypes.
LABORATORY/
RADIOLOGIC/OTHERCHARACTERIZATION Epidermal nevus syndrome: MR of intracranial involvement.
Lazzeri S, Mascalchi M, Cellerini M, Martinetti MG, Dal Pozzo G.
Dipartimento di Fisiopatologia Clinica, Universita di Firenze, Italy.
AJNR Am J Neuroradiol 1993 Sep-Oct;14(5):1255-7 Abstract quote
Focal thickening of the calvarium, hypoplasia of the white matter, cortical calcifications, and a leptomeningeal drape that enhanced after contrast injection were demonstrated by MR in the parietooccipital region ipsilateral to a facial sebaceous nevus in a patient with epidermal nevus syndrome.
GROSS APPEARANCE/
CLINICAL VARIANTSCHARACTERIZATION General Epidermal nevi and the epidermal nevus syndrome. A review of 131 cases.
Rogers M, McCrossin I, Commens C.
Department of Dermatology, Children's Hospital, South Wales, Australia.
J Am Acad Dermatol 1989 Mar;20(3):476-88 Abstract quote
One hundred thirty-one patients with epidermal nevi are reviewed. The commonest site of involvement was the head and neck, and 13% of patients had widespread lesions. Ages of onset ranged from birth to 14 years. A spread beyond the original distribution was noted in 37% of patients. Many clinical patterns occurred, including eight cases of inflammatory linear verrucous epidermal nevus. A variety of other cutaneous abnormalities were found. Biopsies were performed in 41 cases. Three patients developed secondary tumors. One hundred nineteen of the patients were assessed for the presence of abnormalities in other organ systems. One or more abnormalities were demonstrated in 33% of patients, and in 5%, five or more abnormalities were detected.
This study indicates that patients with epidermal nevi are at significant risk of having other abnormalities and warrant detailed initial assessment and close follow-up.
Epidermal nevus syndrome: subgroup with neuronal migration defects.
el-Shanti H, Bell WE, Waziri MH.
Department of Pediatrics, University of Iowa College of Medicine, Iowa City.
J Child Neurol 1992 Jan;7(1):29-34 Abstract quote
Epidermal nevus syndrome is one of the sporadic congenital hamartoses in which neurologic abnormalities have been frequently reported.
We report two cases with severe primary brain involvement, seizures, mental retardation, and facial hemihypertrophy. We emphasize the superiority of magnetic resonance imaging over other radiographic studies in outlining the primary central nervous system anomalies associated with this syndrome. Although attempts were made to distinguish between several variants of epidermal nevus syndrome, it is clear that these are one entity. Proteus syndrome, encephalocraniocutaneous lipomatosis, and epidermal nevus syndrome have several overlapping phenotypic features.
We suggest that they represent a phenotypic continuum, which in turn suggests a common pathogenetic process. While the cause of these syndromes is unknown, observations point to a somatic mutation leading to variable patterns of mosaicism.
Semin Dermatol 1995;14:111 Non hereditary
Nevus sebaceous
Cerebral anomalies
Coloboma
Conjunctiva lipodermoidNon hereditary
Cataracts
Skeletal defects
EEC abnormalitiesParadominant inheritance
Becker's nevus, ipsilateral breast hypoplasia, skeletal defectsParadominant inheritance
Soft, flat, nonorganoid epidermal nevus
Limb gigantism
Skeletal hyperplasia
Subcutaneous hamartomasCongenital hemidysplasia
Ichthyosiform dermatitis
Limb defects
Anomalies of brain, heart, or kidneyX-linked dominant
VARIANTS Familial systematized epidermal nevus syndrome.
Meschia JF, Junkins E, Hofman KJ.
Center for Medical Genetics, Johns Hopkins University School of Medicine, Baltimore, Maryland.
Am J Med Genet 1992 Nov 15;44(5):664-7 Abstract quote
Epidermal nevi are typically congenital but rarely familial.
We report on a family in which 3 relatives have systematized epidermal nevi. The propositus also has evidence of a hemangioma and a hemangioendothelioma. Peripheral blood and skin fibroblast karyotypes of the propositus did not show evidence of mosaicism. Epidermal nevi have been associated with nondermatologic pathology, involving the nervous, vascular, and skeletal systems in sporadic cases.
This report demonstrates that nondermatologic pathology can be also be associated with systematized epidermal nevi in a familial setting. The apparent skipping of generations may be explained by autosomal dominant inheritance with decreased penetrance.
Further delineation of the epidermal nevus syndrome: two cases with new findings and literature review.
Grebe TA, Rimsza ME, Richter SF, Hansen RC, Hoyme HE.
Department of Pediatrics, Steele Memorial Children's Research Center, Tucson, AZ
Am J Med Genet 1993 Aug 1;47(1):24-30 Abstract quote
"Epidermal nevus syndrome" ("ENS") is a neurocutaneous disorder in which epidermal nevi are associated with other abnormalities, most commonly of the skeletal and central nervous systems.
We present two cases of epidermal nevus syndrome (ENS) with very different clinical findings. The first case is a newborn with multiple linear epidermal nevi of the trunk and limbs, and several other anomalies, including bony duplications of the lower limbs and hypoplastic left heart syndrome. The second patient, a 6-year-old boy, has a linear nevus sebaceous of the scalp with severe CNS involvement, including generalized seizures, moderate mental retardation, microcephaly, and a left hemiparesis. He also has genitourinary, cardiac, and skeletal defects. These two patients exhibit several abnormalities not previously recognized and illustrate the wide clinical spectrum of "epidermal nevus syndrome."
We present a review of the clinical findings in 74 cases of "ENS." Correlation was noted between the presence of skin lesions located on the head and CNS involvement. The wide clinical spectrum of "ENS" as illustrated by these two patients suggests that "ENS" is a causally heterogeneous group of disorders.
Phacomatosis pigmentokeratotica: another epidermal nevus syndrome and a distinctive type of twin spotting.
Boente MC, Pizzi de Parra N, Larralde de Luna M, Bonet HB, Santos Munoz A, Parra V, Gramajo P, Moreno S, Asial RA.
Department of Dermatology, Hospital del Nino Jesus, Pasaje Bertres 224, San Miguel de Tucuman, 4000 Tucuman, Argentina.
Eur J Dermatol 2000 Apr-May;10(3):190-4 Abstract quote
The name epidermal nevus syndrome could be applied to a group of clinically and histopathologically different entities as has been pointed out by Happle. Phacomatosis pigmentokeratotica is a further type of epidermal nevus syndrome distinguished by the presence of a sebaceous nevus and a contralateral speckled lentiginous nevus of the papular type, associated with skeletal or neurological abnormalities. T
hree new cases of this recently delineated syndrome are presented. A common origin may account for the temporal and spatial relationship between the epidermal and the speckled lentiginous nevus.
The concept of melanocytic-epidermal twin spotting similar to the interpretation of vascular twin spotting could explain the pathogenesis of this entity.
HISTOLOGICAL TYPES CHARACTERIZATION General VARIANTS Abnormal neuronal migration and gliomatosis cerebri in epidermal nevus syndrome.
Choi BH, Kudo M.
Acta Neuropathol (Berl) 1981;53(4):319-25 Abstract quote
A detailed neuropathologic examination of the brain of a child with the typical epidermal nevus syndrome revealed a primary disturbance of development of the brain.
The developmental disturbance consisted of an abnormal or incomplete migration of neurons to form the cerebral and cerebellar cortices. The normal architectonic pattern of the cortical layer formation of the cerebrum and cerebellum was also disturbed. In addition, there was an abnormality in the proliferative activity of astroglial cells resulting in gliomatosis cerebri.
It is suggested that the basic abnormality underlying various neurologic derangements in epidermal nevus syndrome is the result of a defect in specific developmental events, such as neuronal migration and cortical differentiation.
Epidermal nevus syndrome with hemimegalencephaly: a clinical report of a case with acanthosis nigricans-like nevi on the face and neck, hemimegalencephaly, and hemihypertrophy of the body.
Sakuta R, Aikawa H, Takashima S, Yoza A, Ryo S.
Department of Pediatrics, Numazu City Hospital, Shizuoka, Japan. A
Brain Dev 1989;11(3):191-4 Abstract quote
A 5-year-old boy with the epidermal nevus syndrome and hemimegalencephaly is reported.
He had pigmented nevi on the forehead and neck, and hemihypertrophy of the body from the birth. He developed intractable seizures, mental retardation, and right hemiparesis. His seizure pattern changed from early infantile epileptic encephalopathy to infantile spasms at 2 months of age. Electroencephalograms showed a suppression-burst pattern in the neonatal period, subsequently changing to hypsarrhythmia. Computerized tomography of the brain disclosed slight dilatation of the posterior horn of the lateral ventricle at the age of 2 months. Later, hemimegalencephaly with calcification on the left side of the brain was noted.
Histological examination of the pigmented nevus on the neck showed it to be an acanthosis nigricans-like lesion. Clinical differences between tuberous sclerosis and epidermal nevus syndrome with hemimegalencephaly are discussed.
Epidermal nevus syndrome with hemimegalencephaly: neuropathological study.
Sakuta R, Aikawa H, Takashima S, Ryo S.
Department of Pediatrics, Nihon University School of Medicine, Tokyo, Japan
Brain Dev 1991 Jul;13(4):260-5 Abstract quote
A neuropathologic examination of a 5-year-boy 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 neurons and prominent astrogliosis. Golgi staining revealed hypertrophic neurons with increased dendrites and spines.
The hemihypertrophy of the cerebral hemispheres seems to have contributed to an increased volume of the white matter with migration disorder, and may have been due to a disorder in the germinal cell proliferation stage.
Epidermal nevus syndrome: a neurologic variant with hemimegalencephaly, gyral malformation, mental retardation, seizures, and facial hemihypertrophy.
Pavone L, Curatolo P, Rizzo R, Micali G, Incorpora G, Garg BP, Dunn DW, Dobyns WB.
Pediatric Clinic, University of Catania, Italy.
Neurology 1991 Feb;41(2 ( Pt 1)):266-71 Abstract quote
The epidermal nevus syndrome (ENS) is a sporadic neurocutaneous disorder that consists of epidermal nevi and congenital anomalies involving the brain and other systems.
From among over 60 patients with ENS presenting with neurologic manifestations, we identified 17 who had hemimegalencephaly based on pathologic or radiologic studies.
Associated brain and neurologic abnormalities included gyral malformations in 12 of 12, mental retardation in 13 of 14, seizures in 16 of 17 (including 9 with infantile spasms), and contralateral hemiparesis in 7 of 12. All had ipsilateral epidermal nevi of the head, and several had ipsilateral facial hemihypertrophy. We concluded that these abnormalities comprise a recognizable neurologic variant of ENS that we believe represents the full expression of primary brain involvement. Several patients also had evidence of acquired brain lesions such as infarcts, atrophy, porencephaly, and calcifications, which are best explained by prior ischemia or hemorrhage.
Given repeated observations of blood vessel anomalies in ENS patients, we hypothesize that underlying vascular dysplasia predisposes to these acquired lesions. The same cause may be invoked to explain the wide variety of neurologic symptoms reported in ENS patients without hemimegalencephaly. While the cause of ENS remains unknown, several observations suggest a somatic mutation.
PROGNOSIS AND TREATMENT CHARACTERIZATION Prognostic Factors Development of both cutaneous and visceral malignancies Treatment Epidermal nevus syndrome: a review and case report.
Losee JE, Serletti JM, Pennino RP.
Division of Plastic Surgery, University of Rochester, NY 14642, USA.
Ann Plast Surg 1999 Aug;43(2):211-4 Abstract quote
The epidermal nevus syndrome is a disease complex of epidermal nevi and developmental abnormalities of different organ systems.
The authors present a case of congenital systematized epidermal nevus syndrome in a patient with skin lesions covering approximately 80% of the total body surface area. The patient underwent staged treatment of the epidermal nevi with a carbon dioxide laser utilizing two different techniques. The larger verrucous lesions were debulked initially, and the resulting defects and thinner lesions were treated using the Silk Touch modality. The lesions were dermaplaned sequentially until they were ablated completely. All wounds healed without complication, and in a 2-year follow-up the patient has experienced no recurrence in the treated areas.
Epidermal nevi can be treated safely, effectively, and without recurrence with carbon dioxide laser ablation.
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