Encephalocraniocutaneous lipomatosis with otolaryngologic manifestations: a rare neurocutaneous syndrome.

Encephalocraniocutaneous lipomatosis (ECCL) is a rare congenital disorder and was first described in 1970. The main clinical features of the syndrome include convulsions beginning in infancy, mental retardation, and unilateral cutaneous and ophthalmologic lesions with ipsilateral cerebral manifestations. A 14-year-old caucasian boy with ECCL associated with otolaryngologic manifestations is reported. To our knowledge, this is the first case of ECCL with otolaryngologic manifestation in the English literature.

Is epistaxis evidence of end-organ damage in patients with hypertension?

OBJECTIVES/HYPOTHESIS: To study the association between history of mild to severe epistaxis with different stages of hypertension and with other evidence of target organ damage in a sample of patients attending an outpatient hypertension clinic, controlling for potential confounding factors. STUDY DESIGN: A survey of adult patients with hypertension. METHODS: A consecutive sample of 323 adults with hypertension was studied. The main outcome measures were history of adult epistaxis, high blood pressure, duration of hypertension, nasal abnormalities, and fundoscopic and electrocardiogram abnormalities. RESULTS: Ninety-four patients (29.1% of the whole sample) reported at least one episode of nosebleed after 18 years of age. Of these, 59 (62.8%) needed medical assistance to control at least one of the episodes. The history of epistaxis was not associated with blood pressure classified according to the World Health Organization/International Society of Hypertension paradigm or classified as severe or not severe. There was a trend of an association between history of epistaxis and duration of hypertension. The history of severe epistaxis (epistaxis that needed medical assistance) was not associated with blood pressure classified as severe or not severe and with duration of hypertension. More patients with left ventricular hypertrophy had a positive history of adult epistaxis. There was no association between history of epistaxis or history of severe epistaxis and fundoscopic abnormalities. Among the abnormalities detected at rhinoscopy, only the presence of enlarged septal vessels was associated with history of epistaxis. The presence of enlarged septal vessels was strongly and independently associated with history of epistaxis in the logistic regression model. Duration of hypertension and left ventricular hypertrophy showed a trend for an association with the history of epistaxis in the adult life. CONCLUSIONS: A definite association between blood pressure and history of adult epistaxis in hypertensive patients was not found. The evidence for an association of duration of hypertension and left ventricular hypertrophy with epistaxis suggests that epistaxis might be a consequence of long-lasting hypertension. The association between the presence of enlarged vessels at rhinoscopy with history of epistaxis in hypertensive patients is a novel observation that needs to be addressed in future observations.