Spontaneous pneumothorax is a classical medical condition encountered in emergency centers, and by primary care and respiratory physicians. The traditional distinction between primary and secondary pneumothorax, although old and increasingly blurred, still allows to guide initial management and to determine whether pleurodesis is indicated. In case of spontaneous pneumothorax, a targeted family history is essential because it can suggest the presence of a genetic syndrome as the underlying cause of the pneumothorax, a condition often associated with a high risk of pneumothorax recurrence, and the occurrence of extrathoracic manifestations which may be serious if recognized late. This review addresses the classification of spontaneous pneumothorax, its pathogenesis, the risk factors of occurrence including genetic syndromes, and its management.