Encephalocraniocutaneous lipomatosis: a rare neurocutaneous syndrome.

Encephalocraniocutaneous lipomatosis is a congenital hamartomatous disorder with unique ocular, cutaneous and neurological features. A 13-year-old boy presented with history of mental retardation and delayed developmental milestones. Bulbar conjunctiva of left eye showed hypertrophy with a soft reddish limbal nodule encroaching on the cornea. Dermatological examination showed multiple patches of alopecia, soft papules in the left perioral and periorbital areas, soft masses over the right axilla, trunk and in the lumbosacral region suggestive of lipomas. The CT scan of the brain revealed well-defined, hypodense lesions in both the cerebellar hemispheres suggestive of lipomas. The constellation of these findings led us to a diagnosis of encephalocraniocutaneous lipomatosis.

Progressive systemic sclerosis in childhood: a report of three cases.

Systemic sclerosis is unusual in childhood. We describe three children who presented with diffuse hidebound skin associated with gastrointestinal and pulmonary abnormalities. Cardiac and renal dysfunctions, which are often encountered in these patients, were notably absent in our cases.

Treatment of pemphigus with intravenous pulse cyclophosphamide.

BACKGROUND: The complications associated with the use of systemic corticosteroid therapy have prompted a search for alternative agents. However, these agents are themselves associated with increased risk of myelosuppression or malignancy. METHODS: The present study included twenty patients with recalcitrant pemphigus or steroid induced side effects who were treated with intravenous cyclophosphamide pulse therapy. RESULTS: Out of 18 patients who completed the study, 14 showed good to excellent response. Thirteen were able to decrease their daily dose of steroid to 5-10 mg prednisolone while one could stop steroids altogether. Most patients did not experience serious side effects. DISCUSSION: Thus intravenous pulse cyclophosphamide is a promising form of therapy in pemphigus either recalcitrant or intolerant to steroid therapy. The decreased total cumulative dose of cyclophosphamide with intravenous therapy as compared to oral therapy may reduce the incidence of secondary malignancy.