Affiliations: Via Radiology (Private Practice Partnership), Seattle,
WA, USA | Department of Radiology, University of Colorado
Denver, Aurora, CO, USA
Note: [] Correspondence: Dr. Robert J. Bert,
Department of Radiology, University of Colorado Denver, Aurora, CO 80045, USA.
Tel.: +1 720 848 6601; Fax: +1 720 848 7315; E-mail:
robert.bert@ucdenver.edu
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
