dyskeratosis congenita, autosomal recessive-type 4

dyskeratosis congenita, autosomal recessive—type 4

A rare multisystem disorder (OMIM:613989) caused by defective telomere maintenance, which is characterised by progressive bone marrow failure and a clinical triad of reticulated skin hyperpigmentation, nail dystrophy and mucosal leukoplakia. It is variably accompanied by premature greying, aplastic anaemia, low platelets, osteoporosis, pulmonary fibrosis and liver fibrosis. Early death is due to bone marrow failure, infections, fatal pulmonary complications or cancer.

Molecular pathology
Caused by defects of TERT, which encodes telomerase reverse transcriptase.