Linear nevus sebaceous syndrome: Megalencephaly and heterotopic gray matter

Hager, Brian C.; Dyme, I.Zachary; Guertin, Stephen R.; Tyler, Robert J.; Tryciecky, Eugene W.; Fratkin, Jonathan D.

doi:10.1016/0887-8994(91)90105-t

Cited by 43 publications

(17 citation statements)

References 7 publications

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“…22,23 These, together with our report, demonstrate the superiority of this technique in the elucidation of the neurologic abnormalities associated with this syndrome.…”

Section: Discussionsupporting

confidence: 66%

Epidermal Nevus Syndrome: Subgroup With Neuronal Migration Defects

1992

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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.

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“…22,23 These, together with our report, demonstrate the superiority of this technique in the elucidation of the neurologic abnormalities associated with this syndrome.…”

Section: Discussionsupporting

confidence: 66%

Epidermal Nevus Syndrome: Subgroup With Neuronal Migration Defects

1992

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“…Hager BC et al reported a case of 3 month male with facial deformities, cortical blindness whose neuroimaging revealed unilateral lissencephaly, heterotrophic grey matter and hemimegalencephaly. 8 Association with unilateral lissencephaly is rare.…”

Section: Discussionmentioning

confidence: 99%

Linear nevus sebaceous syndrome with lissencephaly

Sinha

Kalra

Aggarwal

et al. 2016

Int J Contemp Pediatr

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“…It seems that cafe´-au-lait pigmentation and organ anomalies are common features of both FA and congenital epidermal nevus syndrome [16][17][18]. ILVEN is an epidermal nevus whose association with other organ malformations is debatable, especially in childhood.…”

Section: Casementioning

confidence: 99%

Five Fanconi anemia patients with unusual organ pathologies

et al. 2004

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Fanconi anemia (FA) is a rare autosomal recessive disorder that presents with variable organ abnormalities, progressive cytopenia, and susceptibility to the development of several malignancies. Although some of the organ pathologies such as microcephaly, microphthalmia, skin dyspigmentation, urogenital system involvement, and radial ray skeletal abnormalities are relatively common, there are some other abnormalities that are rarely associated with the disease [Alter BP. In: Nathan DG, Oski FA, editors. Hematology of infancy and childhood. Philadelphia: Saunders; 2003. p 259-273]. In this paper, five cases of unrelated FA patients with unusual organ pathologies, including chronic obstructive lung disease, lipodystrophy, Sprengel's deformity, diaphragmatic hernia, and inflammatory linear verrucous epidermal nevus (ILVEN) are presented. Recognition of unusual pathologies associated with FA is important in order to improve our understanding of the relationship between the disease and presenting organ pathologies.

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Linear nevus sebaceous syndrome: Megalencephaly and heterotopic gray matter

Cited by 43 publications

References 7 publications

Epidermal Nevus Syndrome: Subgroup With Neuronal Migration Defects

Epidermal Nevus Syndrome: Subgroup With Neuronal Migration Defects

Linear nevus sebaceous syndrome with lissencephaly

Five Fanconi anemia patients with unusual organ pathologies

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