Dyskeratosis congenita is one of the inherited bone marrow failure syndrome caused due to mutations of genes involved in the maintenance of telomere length.
The other findings include short stature, microcephaly, hypogonadism, developmental delay, urethral stricture, idiopathic pulmonary fibrosis, idiopathic cirrhosis, and a strong predisposition to other cancers such as head and neck squamous cell carcinoma, Ca stomach/Ca esophagus, Anorectal carcinoma, Myelodysplastic syndrome, and Acute Myeloid Leukemia
Diagnosis is by clinical examination and bone marrow evaluation, telomere length analysis, and next generation sequencing to identify the genes involved in telomere length. The only curative treatment is Hematopoietic stem cell transplantation.
Fig 1. Dystrophic nails
Fig 2. Lacy reticular skin pigmentation
Fig 3. Oral Leukoplakia
Dr. Arshad Raja Associate Consultant – Haematology and Haemato Oncology Kauvery Hospital Chennai
