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Query: UMLS:C0027960 (mole)
 21,279 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The epidermal nevus syndrome is characterized by the association of epidermal nevi with abnormalities of the skin, skeletal system, central nervous system, eyes, and cardiovascular system, as well as with malignant conditions. We describe a 2-year-old girl with an extensive epidermal nevus involving the left side of the body (nevus unius lateris) and associated with a woolly hair nevus on the left parietal area of the scalp and multiple acquired melanocytic nevi. Idiopathic central precocious puberty characterized by premature breast and public hair development and advanced bone age developed at the age of 20 months. A sharp increase in serum gonadotropins after a luteinizing hormone releasing hormone (LHRH) stimulation test confirmed the presence of central precocious puberty. This is the third reported case of precocious puberty associated with the epidermal nevus syndrome.
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PMID:Epidermal nevus syndrome: association with central precocious puberty and woolly hair nevus. 891

A 9-year-old girl was diagnosed as having a linear sebaceous nevus syndrome (LSNS). The nevus sebaceus was located on the face, and the girl also had nevoid hypertrichosis on the neck, sensorineural deafness, partial anodontia, blocked tear ducts, labiopalatoschisis, and an area of micropolygyria in the left encephalic (cerebral) hemisphere. Electroencephalographic alterations were detected, but they were not accompanied by a history of seizures; furthermore, the child was not mentally retarded. This phenotypic pattern of LSNS is unusual for the rarity of associated abnormalities.
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PMID:Linear sebaceous nevus syndrome: report of a patient with unusual associated abnormalities. 891 19

The Schimmelpenning-Feuerstein-Mims syndrome (SFM), characterized by linear nevus sebaceous and ocular and neurologic abnormalities, is a sporadic condition without known familial cases or etiology. We report the occurrence of SFM in only one of two monozygotic (MZ) twins. After considering a variety of possible causative mechanisms, we suggest that a postzygotic dominant lethal mutation in mosaic form may best explain SFM and the discordancy for SFM in these MZ twins.
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PMID:Discordant monozygotic twins with the Schimmelpenning-Feuerstein-Mims syndrome. 900 30

Epidermal nevus syndrome is a neurocutaneous disorder in which epidermal nevi are associated with other abnormalities, mostly of skeletal and central nervous system. A case of 6-year old girl with noninflammatory verrucous nevus, skeletal abnormalities of the left leg and Wilms tumor is presented.
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PMID:[Epidermal nevus syndrome--bi-symptom type]. 902 24

We describe a 10-year-old girl affected with a speckled lentiginous nevus and an epidermal nevus of the organoid type on corresponding parts of the body. On histopathological examination, the lesions showed epidermal hyperpigmentation and melanocytic hyperplasia on the one hand and verrucous epidermal acanthosis with sebaceous hyperplasia on the other hand. Except for a minor deviation of the spine, the patient had no obvious extracutaneous symptoms. Happle et al. have recently interpreted the rare co-occurrence of these two types of nevi in spatial proximity as an example of twin spotting in human skin and proposed the name 'phacomatosis pigmentokeratotica'. In most cases, additional skeletal or neurological anomalies are found. These are dissimilar from the extracutaneous symptoms of the sebaceous nevus syndrome, from which phacomatosis pigmentokeratotica should be distinguished. Molecular studies are needed to prove the concept of twin spotting and to reveal a link to the extracutaneous manifestations.
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PMID:Phacomatosis pigmentokeratotica: a patient with the rare melanocytic-epidermal twin nevus syndrome. 903

We report a case of linear nevus sebaceous syndrome with seizure, mental retardation, and hemiparesis. Magnetic resonance imaging (MRI) clearly demonstrated associated brain malformations of unilateral megalencephaly with cortical dysplasia and white matter change ipsilateral to the sebaceous nevi of the face and neck. Although magnetic resonance angiography (MRA) demonstrated only distortion of the main cerebral arteries without any occlusive or dysplastic findings, single photon emission computed tomography (SPECT) using [123I]N-Isopropyl-p-iodoamphetamine (IMP) revealed hypoperfusion in the affected cerebral hemisphere.
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PMID:Unilateral megalencephaly in linear nevus sebaceous syndrome: a neuroradiological case report. 913 88

Epidermal nevus syndrome is characterized by congenital anomalies affecting multiple body systems, especially the skin, skeleton and central nervous system. A form of rickets/osteomalacia that is markedly resistant to treatment with vitamin D has been reported in children with this syndrome. We report the clinical and laboratory observations in a child with epidermal nevi and severe hypophosphatemic rickets/osteomalacia.
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PMID:Hypophosphatemic vitamin-D resistant rickets associated with epidermal nevus syndrome. A case report. 922 23

Startle-induced epilepsy was observed in a 5-year-old boy with epidermal nevus syndrome. He manifested linear nevus on the face and neck, mild mental retardation, and right hemiparesis. Massive myoclonus, followed by tonic seizures, had been triggered by unexpected auditory stimuli since 3 years of age. The startle-induced seizures were the only epileptic manifestation. Interictal EEG occasionally depicted spontaneous focal spikes and waves in the left frontotemporal area, and ictal EEG depicted vertex spikes and then diffuse slow spike-and-wave complex bursts. Left frontal and perisylvian cortical atrophy and a white matter abnormality in the left frontal area were revealed by magnetic resonance imaging. Single photon emission computed tomography demonstrated diffuse low perfusion in the left cerebral hemisphere. Lower amplitude potentials in the left cerebral cortex were evident during somatosensory evoked potential evaluation. These results indicate that hemispheric dysfunction could cause startle-induced epilepsy in this patient.
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PMID:Startle-induced epilepsy in a patient with epidermal nevus syndrome. 958 33

We report a 34-year-old woman with linear sebaceous nevus syndrome and dolichomegalic artery. The patient was admitted to our hospital for evaluation of a headache and fever. Neurological examination revealed no focal sign except neck stiffness. She had had sebaceous nevi on the left side of her head, cheek and neck since she was born. A cranial CT scan showed high signal intensity in the subarachnoid space. Cranial MRI showed a dolichomegalic artery. The patient's past history included many episodes of headache and fever since her first decade of life and she had been diagnosed five times with cerebrovascular disease. At the present admission, subarachnoid hemorrhage was diagnosed and treated. The patient improved and was discharged on the 21st day. Linear sebaceous nevi are associated with many types of anomalies, but we found no other reported cases of linear sebaceous nevus syndrome associated with a cerebrovascular anomaly. This case suggests that a patient with sebaceous nevi who presents with headache and fever should be examined with careful attention to the cerebrovascular system.
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PMID:[A case of linear sebaceous nevus syndrome associated with a cerebrovascular anomaly]. 980 99

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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PMID:Epidermal nevus syndrome: a review and case report. 1045 33


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