Inherited pulmonary cylindromas

Abstract

Summary CYLD cutaneous syndrome (CCS) is a rare inherited skin disease. This disease affects about 1 in every 100,000 people in the U.K. and is more severe in females. It causes the development of multiple, sometimes hundreds, of skin tumours in each patient; these skin tumours, called cylindromas, can be painful and may grow rapidly. Depending on where they grow they can also cause problems; for example, blockage of the ear canal affecting hearing, and pubic tumours causing sexual dysfunction. We showed for the first time, evidence of cylindromas in the lung in a mother and daughter with CCS. Samples of both patients’ lung and skin tumours were taken, and studied with pathologists, and investigated with cutting‐edge genetic tests. These genetic tests allowed us to demonstrate that the gene signature of the lung cylindromas were similar to the gene signature of skin cylindromas. This suggests that sometimes, cylindroma cells may travel from the skin to the lung. It is important that doctors looking after CCS patients are aware of this possibility and understand the need to investigate if patients with this condition present with new symptoms of lung disease. It also guides doctors regarding follow‐up with repeat scans for these patients and treatments such as laser to trim back these lung tumours if they are going to block the large airways in the lung.