Sir,
Dyskeratosis congenita (DC) is an inherited bone marrow failure (BMF) syndrome characterized by abnormal skin pigmentation, nail dystrophy, oral leukoplakia, and cancer predisposition, with increased risk of squamous cell carcinoma and hematolymphoid neoplasms. This is a rare disease with an estimated annual incidence of < 1 in 1 million [
A 22-year-old Vietnamese man presented to our hospital with hyperpigmentation and nail dystrophy. The patient had no history of alcoholism, smoking, chewing tobacco, or chronic drug use. He had white and thickened patches in the mouth since birth but had noticed asymptomatic skin pigmentation all over the body, predominantly on the chest, trunk, and arms since 10 years of age. In addition, he had noticed nail deformity when he was 15 years old. Although his sister had no abnormal skin pigmentation or nail dystrophy, his cousin (maternal side) had similar skin symptoms, including hyperpigmentation, nail dystrophy, and leukoplakia.
Clinical examination revealed fine, reticular, grey-brown pigmentation over the whole body, particularly on the neck, chest, arms, and thighs (
Clinical manifestations and histopathology of the patient. (a) Reticular, grey brown pigmentation on the neck and chest. (b) Nail dystrophy. (c) Oral leukoplakia. (d) Skin histopathology shows increased melanin and melanocytes in the epidermis and melanophages and perivascular lymphocytic infiltrate in the dermis.
Laboratory examination found a normal white blood cell count (6,350/µL) with 69.9% neutrophils (4,400/µL). However, a low red blood cell count (3,120,000/µL), a low level of hemoglobin (116 g/L), and a low platelet count (38,000/µL) were detected. In addition, bone marrow histology further supported BMF. Histopathology of a skin biopsy obtained from the lesion with pigmentation revealed no abnormal findings, with an increasing amount of melanin and number of melanocytes within the epidermis. However, melanophages and perivascular lymphocytic infiltrates were detected within the dermis (
DC is characterized by a triad of nail dystrophy, skin pigmentation, and leukoplakia. It can be associated with BMF, as presented in this case. The skin pigmentation and nail changes usually appear first, before the age of 10 years, and then BMF often develops before the age of 20 years, which was similar to our case [
Many studies have demonstrated that DC is principally a disease of defective telomere maintenance [