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Background: Epidermal nevus syndrome is a multi-system disease with a wide spectrum of clinical presentation. Numerous specialists may be required to address its extra cutaneous manifestations.Main observations: We report a severe case of epidermal nevus syndrome involving the oral cavity, pharynx, and central nervous system in addition to disfiguring skin lesions.Conclusions: Dermatologists are in a unique position to first render the diagnosis of epidermal nevus syndrome for young patients and ensure appropriate follow-up. (J Dermatol Case Rep. 2011; 5(2):

We report a 62-year-old woman with a past history of painful central visual loss who developed progressive quadriparesis and bulbar palsy. Neurological examination revealed widespread upper and lower motor neuron signs in the bulbar region and extremities. Electromyography demonstrated widespread active and chronic motor axon loss. Magnetic resonance neuroimaging studies revealed enhancing callosal and periventricular white matter lesions and cervical and thoracic cord hyperintensities. Cerebrospinal fluid analysis was consistent with multiple sclerosis. The patient died of respiratory failure two years after presentation, and autopsy revealed multifocal demyelination involving the corpus callosum, cerebellum and spinal cord as well as pathologic findings typical of amyotrophic lateral sclerosis. A review of the literature confirms the exceedingly unusual combination of amyotrophic lateral sclerosis with multiple sclerosis.

Nephrogenic systemic fibrosis (NSF) is a progressive and potentially fatal fibrosing skin disorder found mainly in patients with renal insufficiency. NSF is characterized by thickened and hyperpigmented skin lesions with or without systemic involvement. In essentially all patients, this disease entity has been associated with the administration of gadolinium contrast agents for imaging purposes. Microscopic recognition of this entity remains challenging, as the diagnosis is based on various clinical and histopathologic features that overlap with other fibrosing disorders. No single feature is absolutely specific for NSF. We report a finding of osseous sclerotic bodies with elastin trapping appearing on histopathology in the clinical setting of NSF with hemodialysis-dependent renal failure. Our report of an additional attribute indicative of NSF may aid in making the diagnosis.

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