Lipogranulomatous subconjunctival nodules: a novel presentation in Blau syndrome.

Blau syndrome is an early-onset granulomatous disease known to affect the skin, joints, and eyes. We report a child with diffuse rash, arthritis, and subconjunctival nodules. Biopsy of the bulbar conjunctiva revealed noncaseating lipogranulomas that lead to a diagnosis of Blau syndrome. To our knowledge, noncaseating lipogranulomas of the conjunctiva have not been reported previously as a presenting finding in Blau syndrome. Although uveitis is the classic manifestation, it is important to broaden the awareness of other ocular signs, as these variations can aid in diagnosis.

Acid ceramidase and the treatment of ceramide diseases: The expanding role of enzyme replacement therapy.

Ceramides are a diverse group of sphingolipids that play important roles in many biological processes. Acid ceramidase (AC) is one key enzyme that regulates ceramide metabolism. Early research on AC focused on the fact that it is the enzyme deficient in the rare genetic disorder, Farber Lipogranulomatosis. Recent research has revealed that deficiency of the same enzyme is responsible for a rare form of spinal muscular atrophy associated with myoclonic epilepsy (SMA-PME). Due to their diverse role in biology, accumulation of ceramides also has been implicated in the pathobiology of many other common diseases, including infectious lung diseases, diabetes, cancers and others. This has revealed the potential of AC as a therapy for many of these diseases. This review will focus on the biology of AC and the potential role of this enzyme in the treatment of human disease.

Surreptitious injection of mineral oil: a case report of sclerosing lipogranulomatosis.

The use of injectable liquids for cosmetic purposes has been described by numerous clinicians informing the public of its destructive consequences. Several reports of layperson injections have come out recently indicating that the practice is still prevalent worldwide. Reports of self-administration of various liquid agents appear to have a unifying clinical presentation termed sclerosing lipogranulomatosis (SL). Although the clinical manifestations of SL were published at the turn of the century, the pathologic findings were not described until 1950. Immediate and delayed complications of this entity relate to the offending agent used and the site of injection. Some of the more commonly used liquids, paraffin (mineral oil), and polydimethyl siloxane (injectable silicone), have been administered to the scrotum, lower extremities, breast, and face. We report a case in which a patient injected mineral oil into his hips and describe the pathologic findings, complications, and subsequent course of treatment. We have also summarized the world's literature relating to the surreptitious injection of exogenous agents.