Cerebral manifestations, hemihypertrophy and lymphoedema of one leg in a child with epidermal nevus syndrome (Schimmelpenning-Feuerstein-Mims).
The report focuses on a rare variant form of epidermal nevus syndrome (ENS) (Schimmelpenning-Feuerstein-Mims syndrome) describing lesions involving the skin, eyes, skeleton, heart and brain in an 11-year-old boy. Despite his evident brain pathology, the boy lacks neurological symptoms and mental retardation. We describe his unusual MRI appearances and radiographic skeletal findings. To our knowledge this is the first report of ENS with lymphoedema occurring together in the same individual.
Neumann
Luitgard M
LM
Institute of Human Genetics, Charité, Campus Virchow-Klinikum, Augustenburger Platz 1, Humboldt University, 13353 Berlin, Germany.luitgard.neumann@charite.de
Scheer
Ianina
I
Kunze
Jürgen
J
Stöver
Brigitte
B
D000015:Abnormalities, Multiple / Q000473:pathology*; D001921:Brain / Q000473:pathology*; D002648:Child; D006801:Humans; D006984:Hypertrophy; D002538:Intracranial Arteriovenous Malformations / Q000473:pathology; D007866:Leg; D008209:Lymphedema / Q000473:pathology; D008279:Magnetic Resonance Imaging; D008297:Male; D020752:Neurocutaneous Syndromes / Q000473:pathology*; D009506:Nevus / Q000473:pathology*; D012878:Skin Neoplasms / Q000473:pathology*; D013577:Syndrome