Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0027960 (mole)
 21,279 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A clinical entity called "the epidermal nevus syndrome" does not exist. Rather, there are various epidermal nevus syndromes that can be distinguished by clinical, histopathological, and genetic criteria. In this review, five distinct epidermal nevus syndromes, recognizable by different types of associated epithelial nevi, are described. The Schimmelpenning syndrome is characterized by a sebaceous nevus associated with cerebral anomalies, coloboma, and lipodermoid of the conjunctiva. By contrast, cataracts are a prominent feature of the nevus comedonicus syndrome. The pigmented hairy epidermal nevus syndrome includes Becker nevus, ipsilateral hypoplasia of the breast, and skeletal defects such as scoliosis. In the Proteus syndrome, the associated epidermal nevus is of a flat, velvety, nonorganoid type. The CHILD syndrome occurs almost exclusively in girls. The associated CHILD nevus shows unique features such as a diffuse form of lateralization, ptychotropism, and microscopic changes of verruciform xanthoma. The five epidermal nevus syndromes differ in their genetic basis. The Schimmelpenning and nevus comedonicus syndromes are most likely nonhereditary traits. By contrast, the pigmented hairy epidermal nevus syndrome and the Proteus syndrome may be explained by paradominant inheritance. The CHILD syndrome is caused by an X-linked dominant mutation exerting a lethal effect on male embryos. A correct diagnosis of these phenotypes is important for both recognition and treatment of associated anomalies as well as for genetic counseling.
 ...
PMID:Epidermal nevus syndromes. 764 Jan 90

The association of connate, left-sided, extensive epidermal verrucous nevus, multiple isolated bone tumors and vitamin-D-resistant rickets since childhood seen in a 20-year-old male patient corresponded to an epidermal nevus syndrome (ENS). However, other organ involvement occasionally associated with ENS could not be found in this patient, and his intraosseous tumors represented histologically benign hemangiomas. Serum analysis revealed hypophosphatemia (together with phosphaturia), decreased levels of 1,25-dihydroxycholecalciferol and elevated levels of alkaline phosphatase indicating hypophosphatemic osteomalacia. Therefore we suppose that vitamin-D-resistant rickets combined with skeletal tumors represents a peculiar type of osteomalacia caused by unilateral mesenchymomas.
 ...
PMID:Extensive linear epidermal nevus associated with hemangiomas of bones and vitamin-D-resistant rickets. 794 84

A case of linear sebaceous nevus syndrome (sebaceous nevus of Jadassohn) in an infant is reported. The clinical manifestation and the radiological features of the central nervous system abnormalities associated with this neurocutaneous syndrome are presented. We believe that this is the first reported case of this syndrome in combination with optic glioma.
 ...
PMID:Linear sebaceous nevus syndrome (sebaceous nevus of Jadassohn) associated with abnormal neuronal migration and optic glioma: case report. 796 43

Encephalocraniocutaneous lipomatosis is a congenital neurocutaneous syndrome with epibulbar choristomas and connective tissue nevi of the eyelids as common ophthalmic manifestations. Systemic manifestations occur ipsilateral to the ocular lesions and include lipomas of the cranium and central nervous system, alopecia of the scalp, and abnormalities of the central nervous system. We treated a child with encephalocraniocutaneous lipomatosis who required removal of an epibulbar choristoma. Pathologic evaluation of the epibulbar choristoma in our patient showed the presence of ectopic lacrimal gland tissue and cartilage. Encephalocraniocutaneous lipomatosis should be considered, together with Goldenhar's syndrome and sebaceous nevus syndrome, in the differential diagnosis of conditions associated with epibulbar choristomas.
 ...
PMID:Ocular and systemic manifestations of encephalocraniocutaneous lipomatosis. 802 79

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.
 ...
PMID:Chromosomal mosaicism in two patients with epidermal verrucous nevus. Demonstration of chromosomal breakpoint. 815 88

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.
 ...
PMID:Epidermal nevus syndrome: MR of intracranial involvement. 823 13

A female patient with epidermal nevus syndrome is reported. There were linear epidermal nevi, hemihyperplasia of the limbs and tongue, macrocephaly, several ophthalmic malformations, and multiple radiolucent lesions in the limbs and sacroiliac region. At age 14 years, she developed a giant cell granuloma of the maxilla.
 ...
PMID:Epidermal nevus syndrome with maxillary involvement. 824 71

"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.
 ...
PMID:Further delineation of the epidermal nevus syndrome: two cases with new findings and literature review. 836 47

The pathologic terms hamartoma, choristoma, nevus, and phakoma often are confused. We discuss them in relation to a patient with the linear nevus sebaceous syndrome who had a large limbal mass that grew unusually rapidly and was excised. Histopathologic examination showed that it was a complex choristoma composed of lacrimal gland, adipose tissue, and myxomatous tissue. The latter has not been described previously in this disorder. This neuro-oculocutaneous syndrome has been considered one of the phakomatoses.
 ...
PMID:Linear nevus sebaceous syndrome. 850 Dec 62

The epidermal nevus syndrome (ENS) is an unusual neurocutaneous disorder consisting of the combination of an epidermal nevus and a central nervous system (CNS), ophthalmological, and/or skeletal abnormality. The study reports four new patients with ENS. Each had a confirmatory biopsy of the epidermal nevus, abnormal neurological examination findings, and documented CNS anatomical studies by imaging or autopsy. The paper also reviews the literature in English to determine neurological abnormalities found in skin-biopsy-proven cases of ENS. Hemi-atrophy, hemimegalencephaly, migrational abnormalities and vascular anomalies were found to be the most frequent intracranial abnormalities associated with ENS. Seizures and/or disabling moderate to severe developmental delays were present in a majority of patients. Seizure onset during the neonatal period or early infancy was associated with major hemispheric malformations. Neuroectodermal-derived ocular lesions were often bilateral. No consistent relation between laterality of the nevus and laterality of CNS abnormalities was found, supporting the gene mosaicism theory of pathogenesis.
 ...
PMID:Developmental neural abnormalities and seizures in epidermal nevus syndrome. 876 Nov 67


<< Previous 1 2 3 4 5 6 7 8 9 10 Next >>