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The linear naevus sebaceus syndrome

1998; Elsevier BV; Volume: 100; Issue: 2 Linguagem: Inglês

10.1016/s0303-8467(98)00012-2

1872-6968

Bart P.C. van de Warrenburg, S van Gulik, W.O. Renier, Martin Lammens, J.C. Doelman,

melanin and skin pigmentation

The linear naevus sebaceus syndrome (LNSS) is a phakomatosis, characterized in general by a triad consisting of naevus sebaceus of Jadassohn, seizures, and mental retardation. In addition, a broad spectrum of neurological, ophthalmological, skeletal, urogenital and cardiovascular symptoms may be encountered. According to our literature review, seizures and mental retardation were reported in 67 and 61% of cases, respectively. Because ophthalmological abnormalities (59%) and involvement of other organ systems (61%) occur frequently, we advise avoidance of adhering to the classical triad for recognizing or describing LNSS. Gross structural abnormality of the cerebrum or cranium was frequently observed (72%), consisting mainly of enlargement of one lateral ventricle, hemimegalencephaly and hemimegacranium. We report a case of a male patient with the clinical features of LNSS, but without cerebral developmental abnormalities at autopsy examination.