Clinical heterogeneity in a family with DKC1 mutation, dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome in first cousins.
- Cristina Olivieri,
- Anna Mondino,
- Matteo Chinello,
- Alessandra Risso,
- Enrico Finale,
- Marina Lanciotti,
- Andrea Guala
Pediatr Rep 2017 Oct 6;9(3):7301. Epub 2017 Oct 6.
Unit of Pediatrics, Castelli Hospital, Verbania.
Dyskeratosis congenita (DC) is an inherited bone marrow failure disorder characterized by mucocutaneous features (skin pigmentation, nail dystrophy and oral leukoplakia), pulmonary fibrosis, hematologic and solid malignancies. Its severe form, recognized as Hoyeraal-Hreidarsson syndrome (HHS), also includes cerebellar hypoplasia, microcephaly, developmental delay and prenatal growth retardation. In literature phenotypic variability among DC patients sharing the same mutation is wellknown. Read More