This is a rare syndrome that can follow an autosomal recessive, dominant, or X-linked inheritance pattern and whose incidence is lower than 1:1,000,000. It has a wide clinical variability, both in terms of severity of symptoms and age of onset. The classical form presents with mucocutaneous abnormalities, onychodystrophy and oral leuoplakia associated with bone marrow failure, and predisposition to the development of tumors. Skin involvement may not always be evident, and visceral involvement constitutes the predominant clinical manifestation (pulmonary fibrosis, liver cirrhosis, aplastic anemia, etc.). The cause of the disorder lies in the inability to maintain telomere integrity and length; thus, it can be classified as a telomeropathy. Telomere shortening is a typical feature of this disease, although it is not always present. It is associated with mutations in genes belonging to the telomerase complex, the telosome/shelterin complex, and the CST complex. More recently, mutations in genes USB1, LIG4, and GRHL2 have been described.
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