Pneumothorax and tuberous sclerosis of Bourneville

Published in the journal : January 2019 Category : Rare Diseases

Summary :

The adult phenotype of tuberous sclerosis of Bourneville (TSB) differs from the typical triad, usually found in children, namely epilepsy, mental retardation, and cutaneous angiofibromas. Recurrent spontaneous pneumothorax episodes may thus be a clinical presentation, secondary to pulmonary cystic lesions present in 40% of TSB women. Based on a clinical case as illustration, we recall the diagnostic criteria of TSB and pulmonary lymphangiomyomatosis (LAM), along with recommendations for treatment and follow-up.

What is already known about the topic?

TSB is an autosomal dominant genetic disorder characterized by numerous clinical manifestations, with predominant cutaneous and neurological presentations.

What does this article bring up for us?

This article informs us that recurrent pneumothorax episodes may be the first symptom of TSB, illustrating the clinical presentation of the adult phenotype. Based on literature reviews, it differentiates TSB from lymphangiomyomatosis (LAM), and recalls consensus criteria for TSB diagnosis and management in adults.

Key Words

Tuberous sclerosis complex (TSC), recurrent spontaneous pneumothorax, pulmonary lymphangiomyomatosis (AML), renal and hepatic angiomyolipomas, cortical tubers and subependymal nodules