Hemihypoplasia and venous anomalies associated with linear nevus sebaceous syndrome

Abstract

Linear sebaceous nevus syndrome (LNSS) is a rare neurocutaneous disorder associated with mental retardation, linear sebaceous nevus of Jadassohn and seizures. Characterized by Feuerstein and Mims in 1962, this disorder has been, grouped with other epidermal nevus syndromes and the phakomatoses. Five distinct epidermal nevus syndromes have been described and characterized by their epidermal nevi and organ system involvement, particularly, brain, eyes and skeleton. LNSS has been associated with hemimegalencephaly and other non-LNSS forms of epidermal nevus syndromes have been associated with hemiatrophy. We present a case of LNSS with diagnostic dermatologic, pathologic and clinical findings but unique computerized tomography and magnetic resonance imaging findings: an undersized hemisphere, unusual draining veins, thinning of the left temporal and occipital cortices ipsilateral to the linear nevus and left frontal bone focal scalloping. We have not found the combination of a vascular anomaly and undersized hemisphere specifically described with LNSS, although a few cases of cerebrovascular abnormality have been associated with LNSS. We discuss the radiologic findings in context of known embryology to favor hemihypoplasia over hemiatrophy. We hope that this case report will lead to further investigations in the pathophysiology and genetics of this disorder.

Keywords

Phakomatosis - hemihypoplasia - linear nevus sebaceous syndrome