Abstract
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. To our knowledge this report describes for the first time a family of DC patients, characterized by a member with features of classic DC and another one with some features of HHS, both with the same mutation in DKC1. Our family confirms again that one mutation can be associated with different phenotypes and different hematological manifestations. It’s possible to speculate that there are likely to be patients who do not clinically fit neatly into either classical DC or HHS, but whose clinical features are due to mutations in DKC1 or in genes responsible for autosomal DC/HHS.
Highlights
1Department of Public and PediatricThree inheritance patterns have been Conflict of interest: the authors declare no poten-
Patients sharing the same mutation is wello known
To our knowledge this report c describes for the first time a family of Dyskeratosis congenita (DC) n patients, characterized by a member with features of classic DC and another one with o some features of HHS, both with the same N mutation in DKC1
Summary
Three inheritance patterns have been Conflict of interest: the authors declare no poten-. Patients with classic DC present two or more of the diagnostic mucocutaneous features or one of these features together with BMF. Many of the mutated genes in classic DC are involved in HHS.[2] In particular many families with DC or with HHS are described in literature.[10-12]. Diepoxybutane and mitomycin C, that did patients who do not clinically fit neatly into not reveal any chromosomal hypersensitivieither classical DC or HHS, but whose clinty to these clastogenic agents. Ues were normal, while the immunophenohave been reported as causive in patients Irregular scars were present on the oral typing of blood lymphocytes identified a with DC.[2,3] Telomers are implicated in cel- mucosa, resulting from the previous surgi- reduction of B lymphocytes
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