Biallelic TERT variant leads to Hoyeraal–Hreidarsson syndrome with additional dyskeratosis congenita findings

2021 ◽  
Author(s):  
Ece Çepni ◽  
Nihan Bilge Satkın ◽  
Lia Abbasi Moheb ◽  
Maria Eugenia Rocha ◽  
Hülya Kayserili
Keyword(s):  
Dyskeratosis Congenita

Dyskeratosis congenita: Unusual onset with isolated neutropenia at an early age

1996 ◽  
Vol 38 (3) ◽  
pp. 288-290 ◽  
Author(s):  
LEMAN YEL ◽  
ILHAN TEZCAN ◽  
ÖZDEN SANAL ◽  
FÜGEN ERSOY ◽  
A IZZET BERKEL
Keyword(s):  
Dyskeratosis Congenita ◽  
Early Age

scholarly journals Monitoring and treatment of MDS in genetically susceptible persons

Hematology ◽  
2019 ◽  
Vol 2019 (1) ◽  
pp. 105-109 ◽  
Author(s):  
Stella M. Davies
Keyword(s):  
Bone Marrow ◽  
Dna Damage ◽  
Bone Marrow Failure ◽  
Treatment Strategies ◽  
Informed Choice ◽  
Dyskeratosis Congenita ◽  
Careful Consideration ◽  
Host Susceptibility ◽  
Bone Marrow Failure Syndromes ◽  
Severe Infections

Abstract Genetic susceptibility to myelodysplastic syndrome (MDS) occurs in children with inherited bone marrow failure syndromes, including Fanconi anemia, Shwachman Diamond syndrome, and dyskeratosis congenita. Available evidence (although not perfect) supports annual surveillance of the blood count and bone marrow in affected persons. Optimal treatment of MDS in these persons is most commonly transplantation. Careful consideration must be given to host susceptibility to DNA damage when selecting a transplant strategy, because significant dose reductions and avoidance of radiation are necessary. Transplantation before evolution to acute myeloid leukemia (AML) is optimal, because outcomes of AML are extremely poor. Children and adults can present with germline mutations in GATA2 and RUNX1, both of which are associated with a 30% to 40% chance of evolution to MDS. GATA2 deficiency may be associated with a clinically important degree of immune suppression, which can cause severe infections that can complicate transplant strategies. GATA2 and RUNX1 deficiency is not associated with host susceptibility to DNA damage, and therefore, conventional treatment strategies for MDS and AML can be used. RUNX1 deficiency has a highly variable phenotype, and MDS can occur in childhood and later in adulthood within the same families, making annual surveillance with marrow examination burdensome; however, such strategies should be discussed with affected persons, allowing an informed choice.

scholarly journals Dyskeratosis Congenita

2019 ◽  
Vol 94 (9) ◽  
pp. 1668-1669
Author(s):  
Eric T. Stoopler ◽  
Rabie M. Shanti
Keyword(s):  
Dyskeratosis Congenita

Dermoscopic findings of poikiloderma in dyskeratosis congenita

2014 ◽  
Vol 71 (5) ◽  
pp. e195-e196 ◽  
Author(s):  
Fang Wang ◽  
Xu-hua Tang ◽  
Mu-kai Chen
Keyword(s):  
Dyskeratosis Congenita
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