Dyskeratosis congenita is a rare congenital disorder affecting mainly the integumentary system. It is a progressive disease with involvement of bone marrow. A triad of hyperpigmentation, nail dystrophy and leucoplakia are characteristic of this disease.
Key words: Hyperpigmentation, nail dystrophy, leucoplakiaThe Case A seven year old Hindu boy born out of nonconsanguineous marriage presented with recurrent febrile episodes for last two months and nonspecifi c symptoms like pallor, lethargy and poor scholastic performance for more than a month.Examination revealed pallor, few hyperpigmented macules over face ( Fig. 1) & limbs, dystrophic nails in all four limbs. Mucosal leucoplakia was present in tongue only (Fig.2). Buccal and oropharyngeal mucosa were not affected.Finger nails (Fig 3) were involved more than toe nails (Fig.4). All kind of changes like ridging, splitting, progressive atrophy, thinning, pterygium formation, rudimentary nails were present.Patient gives history of excessive lacrimation without any reddening or irritation of eyes. Patient had no respiratory problem. Examination of abdomen revealed no organomegaly. Testes were palpable bilaterally; genitourinary system examination was within normal limits.There was no family history of skin and hematological disorders.
InvestigationBlood picture was suggestive of anemia with hemoglobin level of 6.7g/dl; thrombocytopenia, platelet count being 30000 though patient had no spontaneous bleeding from any site. Total leukocyte count was 3400 with 45% polymorphs, 32% lymphocyte, 10% band cell and 12% monocyte and 1% eosinophil. Peripheral blood smear showed anisocytic hypochromic anemia with macro platelets. Reticulocyte count was 1.3%. Direct comb test, Hb electrophoresis, serum iron level, total iron binding capacity were normal. Liver function tests, renal function tests were normal.Patient had an IQ of 60. Chest X ray was normal. X ray spine and hip were done to fi nd out any scoliosis, avascular necrosis of femur. Only mild osteoporotic changes were noticed. USG abdomen revealed no abnormality.Bone marrow aspiration study from iliac crest reveled bone marrow hypoplasia, decreased megakaryocytes and RBC precursor in marrow. Skin biopsy report can be mentioned in detail here.Patient was offered supportive treatment. Patient was also treated with antibiotic. Platelet and packed RBC were transfused when platelet count fell below 20000/cmm and Hb% was 4.2 gm%. Erythropoietin and granulocyte colony stimulating factor injections were also given.