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Dentists have specialised knowledge of the orofacial region and are well placed to identify the signs of general disease which occur in their child patients. A case report is presented in which a patient was diagnosed as suffering from I-Cell disease (mucolipidosis II). The provisional diagnosis of this genetic abnormality was initially made from the presenting gingival appearance. The identification of the oral abnormalities made an important contribution to the diagnosis of this fatal condition.

Weber-Christian disease (W-CD) is associated with relapsing nodular panniculitis and a variety of systemic findings. Renal parenchymal involvement has been rarely reported. The authors describe a case of nephrotic syndrome in an African-American man with a W-CD flare. The patient had chills and low-grade fever with painful lower extremity skin lesions. A renal biopsy demonstrated the tip variant of focal segmental glomerulosclerosis (FSGS). The kidney biopsy also suggested parenchymal involvement by W-CD disease, with supportive ultrastructural findings. The synchronous W-CD flare and biopsy-proven FSGS and the rapid and sustained response of both to limited treatment suggest a causative association.