Flow cytometry-FISH test showed shortened telomeres
Molecular test: positive for mutation in DCK1 gene (Xq28),
Diagnosis: Hoyeraal-Hreidarsson syndrome
Hoyeraal-Hreidarsson syndrome (HHS):
Very rare multisystem genetic disorder.
A severe variant of dyskeratosis congenita (DK), short telomeres.
Presents in early childhood and primarily affects males.
Characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia.
HHS also frequently presents with the DK mucocutaneous triad of nail dysplasia, lacy skin pigmentation and oral leukoplakia.
X-linked recessive pattern of inheritance .
Caused by mutations in the DCK1 gene (Xq28), encoding the nucleolar protein dyskerin which interacts with the human telomerase RNA complex. Mutations in other genes involved in telomere maintenance may be associated with this disorder (TERT, RTEL1 or TINF2).
Molecular test: positive for mutation in DCK1 gene (Xq28),
Diagnosis: Hoyeraal-Hreidarsson syndrome
Hoyeraal-Hreidarsson syndrome (HHS):
Very rare multisystem genetic disorder.
A severe variant of dyskeratosis congenita (DK), short telomeres.
Presents in early childhood and primarily affects males.
Characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia.
HHS also frequently presents with the DK mucocutaneous triad of nail dysplasia, lacy skin pigmentation and oral leukoplakia.
X-linked recessive pattern of inheritance .
Caused by mutations in the DCK1 gene (Xq28), encoding the nucleolar protein dyskerin which interacts with the human telomerase RNA complex. Mutations in other genes involved in telomere maintenance may be associated with this disorder (TERT, RTEL1 or TINF2).
Differential diagnoses: Revesz-Debuse syndrome, Pseudo-TORCH syndrome, Fanconi anemia, Nijmegen breakage syndrome, etc.
The aplastic anemia and immunodeficiency can be treated by bone marrow transplantation. Supportive treatment for gastrointestinal complications and infections is required.
The prognosis is poor, premature death in childhood due to bone marrow failure, increased risk for MDS, AML and epithelial cancer; pulmonary fiblrosis.
The aplastic anemia and immunodeficiency can be treated by bone marrow transplantation. Supportive treatment for gastrointestinal complications and infections is required.
The prognosis is poor, premature death in childhood due to bone marrow failure, increased risk for MDS, AML and epithelial cancer; pulmonary fiblrosis.