Dyskeratosis Congenita or Chronic Graft‐versus‐Host Disease? A Diagnostic Dilemma in a Child Eight Years After Bone Marrow Transplantation for Aplastic Anemia

Ivker, Rachel A.; Woosley, John T.; Resnick, Steven D.

doi:10.1111/j.1525-1470.1993.tb00400.x

Cited by 17 publications

(7 citation statements)

References 13 publications

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“…Patient 3 was diagnosed as having DC only 3 years after the transplant when all findings were evident ( Table I). In a few cases reported in the literature the aplastic phase appears before the mucocutaneous manifestations, and diagnosis after transplant is difficult since hyperpigmentation, dystrophic nails and oral leucoplakia are also manifestations of chronic GVHD ( Ling et al , 1985 ; Ivker et al , 1993 ). Patient 3 also showed late vascular complications and died of liver VOD.…”

Section: Discussionmentioning

confidence: 99%

Unusual complications after bone marrow transplantation for dyskeratosis congenita

et al. 1998

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Dyskeratosis congenita (DC) is a rare inherited disorder often associated with aplastic anaemia. We report the cases of five boys transplanted with an HLA‐identical related donor for severe aplastic anaemia (SAA) associated to DC; in all cases successful engraftment was observed. Three patients died 2–8 years after bone marrow transplantation (BMT) with signs of endothelial cell damage syndrome (kidney microangiopathy and liver veno‐occlusive disease). Another boy died 1 year after BMT from Evans syndrome and invasive aspergillosis. One boy currently presents anaemia, polyarthritis of unknown origin, pulmonary fibrosis and gut malabsorption 7.5 years after BMT. SAA associated with DC can be successfully treated by allogeneic BMT. However, these early and late complications observed are very unusual after BMT and probably reflect the association of transplanted‐related factors, evolution of the underlying disease, and increased sensitivity of endothelial cells. Modified conditioning approaches, advances in supportive care and surveillance of these unusual complications offer the possibility of improved outcome for these patients.

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Section: Discussionmentioning

confidence: 99%

Unusual complications after bone marrow transplantation for dyskeratosis congenita

et al. 1998

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“…One of these families (DCR009) has been published previously ( Forni et al , 1993 ) . There are also other reports in the literature in which patients were initially diagnosed to have bone marrow failure/AA and subsequently developed features of DC ( De Boeck et al , 1981 ; Phillips et al , 1992 ; Ivker et al , 1993 ).…”

Section: Impact Of Recent Advances and Future Directionsmentioning

confidence: 93%

“…The skin pigmentation in DC patients can resemble very closely, clinically and histologically, the features of chronic graft‐versus‐host disease (GVHD) after allogeneic SCT ( Ling et al , 1985 ; Ivker et al , 1993 ). This suggests that although the primary defect in DC is a constitutional genetic abnormality (a putative inherited ribosomapathy; Luzzatto & Karadimitris, 1998), secondary pathology may in part be associated with immunological abnormalities that are observed in some DC patients ( Solder et al , 1998 ; Knight et al , 1999a ).…”

Section: Impact Of Recent Advances and Future Directionsmentioning

confidence: 99%

Dyskeratosis congenita in all its forms

Dokal¹

2000

Br J Haematol

507

499

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“…In another example, HSCT of a DC patient using a sibling, who was a silent carrier of a TERC mutation, resulted in non-mobilization of the hematopoietic stem cells and the subsequent need for androgen therapy to maintain blood counts (95). Molecular testing may also help in distinguishing post-HSCT complications, such as chronic graft versus host disease, from late manifestations of DC (96). …”

Section: Translational Utility Of Genomics In the Ibmfsmentioning

confidence: 99%

Genomic Characterization of the Inherited Bone Marrow Failure Syndromes

Khincha

Savage

2013

Seminars in Hematology

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The inherited bone marrow failure syndromes (IBMFS) are a set of clinically related yet heterogeneous disorders in which at least one hematopoietic cell lineage is significantly reduced. Many of the IBMFS have notably increased cancer risks as well as other physical findings. Highly penetrant germline mutations in key pathways, such as DNA repair, telomere biology, or ribosomal biogenesis are causative of Fanconi anemia (FA), dyskeratosis congenita (DC) and Diamond-Blackfan anemia (DBA), respectively. Next-generation sequencing (NGS) generally refers to high-throughput, large-scale sequencing technologies and is being used more frequently to understand disease etiology. In the IBMFS, NGS has facilitated the discovery of germline mutations that cause thombocytopenia absent radii syndrome, a subset of DC and DBA, and other uncharacterized, but related, disorders. Panels of large numbers of genes are being used to molecularly characterize patients with IBMFS, such as FA and DBA. NGS is also accelerating the discovery of the genetic etiology of previously unclassified IBMFS. In this review, we will highlight recent studies that have employed NGS to ascertain the genetic etiology of IBMFS, namely FA, DC, DBA and TAR and discuss the translational utility of these findings.

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Dyskeratosis Congenita or Chronic Graft‐versus‐Host Disease? A Diagnostic Dilemma in a Child Eight Years After Bone Marrow Transplantation for Aplastic Anemia

Cited by 17 publications

References 13 publications

Unusual complications after bone marrow transplantation for dyskeratosis congenita

Unusual complications after bone marrow transplantation for dyskeratosis congenita

Dyskeratosis congenita in all its forms

Genomic Characterization of the Inherited Bone Marrow Failure Syndromes

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