[Atypical constellation of findings in Schimmelpenning-Feuerstein-Mims syndrome--case report and overview]

The Schimmelpenning-Feuerstein-Mims-syndrome is a phacomatosis of unknown pathogenesis and is presumed to be based on alterations in early embryogenesis. The syndrome is expressed by congenital nevi characterized by hyperplasia of the sebaceous glands and papillary acanthosis. Other manifestations include ophthalmic, neurologic, cardiovascular, skeletal and urogenital involvement. Eye-findings are variable and may affect all parts of the organ. All patients have a nevus sebaceus of the skin and many of them are described to suffer from seizures and/or mental retardation and/or abnormalities of the central nervous system/skull. The atypical constellation of findings in our case makes it of interest to report and give a short review.

A 17-year-old boy with Schimmelpenning-Feuer-stein-Mims-syndrome has been followed up by us since birth.

Beside an unilateral combined nevus sebaceus and verrucosus of the face, neck and skull and an aplasia of a rib there were marked ocular symptoms. The affected right eye showed a dermoid, a wide lid-opening, microcornea, stenosis of the lacrimal ducts, a high myopic fundus, the optic disc with an inverse conus and a posterior scleral staphyloma. There were no seizures or mental retardation combined with normal radiologic findings of the central nervous system and the skull.

The presented findings in our patient with Schimmelpenning-Feuerstein-Mims-syndrome emphasized the high variability of the expression of this disease, which may lead to difficulties in establishing correct diagnosis to prevent unnecessary examinations and inadequate therapies.