Summary of clinical features and diagnostic results leading to the diagnosis of TBD in 2 adult cases
| . | Clinical case 1 . | Clinical case 2 . |
|---|---|---|
| Clinical features | Cryptogenic liver disease Bone marrow failure | Pulmonary fibrosis Bone marrow failure |
| Mucocutaneous features | None | Nail dysplasia Lacy skin rash |
| Patient history | Severe periodontitis as a teenager with loss of several teeth Suspected malabsorption syndrome with growth retardation Prolonged pancytopenia with several severe infections during chemotherapy | Gray hair, 14 years SCC, 30 years SCC, 36 years |
| Family history | No disease reported | Mother: PF, cytopenia Child: nail dysplasia, thrombocytopenia, LTL <1st percentile for age |
| Telomere length by flow FISH (lymphocytes) | <1st percentile | <1st percentile |
| Genetics | Heterozygous, pathogenic variant in TERC | Heterozygous, pathogenic variant in TERC |
| . | Clinical case 1 . | Clinical case 2 . |
|---|---|---|
| Clinical features | Cryptogenic liver disease Bone marrow failure | Pulmonary fibrosis Bone marrow failure |
| Mucocutaneous features | None | Nail dysplasia Lacy skin rash |
| Patient history | Severe periodontitis as a teenager with loss of several teeth Suspected malabsorption syndrome with growth retardation Prolonged pancytopenia with several severe infections during chemotherapy | Gray hair, 14 years SCC, 30 years SCC, 36 years |
| Family history | No disease reported | Mother: PF, cytopenia Child: nail dysplasia, thrombocytopenia, LTL <1st percentile for age |
| Telomere length by flow FISH (lymphocytes) | <1st percentile | <1st percentile |
| Genetics | Heterozygous, pathogenic variant in TERC | Heterozygous, pathogenic variant in TERC |
SCC, skin squamous cell carcinoma.