Cerebral manifestations, hemihypertrophy and lymphoedema of one leg in a child with epidermal nevus syndrome (Schimmelpenning-Feuerstein-Mims)

• Published in: Pediatric radiology Vol. 33; no. 9; pp. 637 - 640
• Main Authors: NEUMANN, Luitgard M, SCHEER, Ianina, KUNZE, Jürgen, STÖVER, Brigitte
• Format: Journal Article
• Language: English
• Published: Berlin Springer 01.09.2003; Springer Nature B.V
• Subjects: Abnormalities, Multiple - pathology; Biological and medical sciences; Brain - pathology; Child; Dermatology; Humans; Hypertrophy; Intracranial Arteriovenous Malformations - pathology; Leg; Lymphedema - pathology; Magnetic Resonance Imaging; Male; Medical sciences; Neurocutaneous Syndromes - pathology; Nevus - pathology; Skin involvement in other diseases. Miscellaneous. General aspects; Skin Neoplasms - pathology; Syndrome; Human; Skin disease; Nervous system diseases; Cardiovascular disease; Male; Nuclear magnetic resonance imaging; Lymphatic vessel disease; Cerebral disorder; Leg; Case study; Lymphedema; Hemihypertrophy; Epidermal nevus syndrome; Central nervous system disease; Unilateral; Medical imagery; Child
• ISSN: 0301-0449; 1432-1998
• DOI: 10.1007/s00247-003-0944-3

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.