Abstract

Dyskeratosis congenita (DC) is a rare disease with an estimated annual incidence of, <1 in 1 million, with multiple and variable clinical manifestations. It is also known as Zinsser-Engman-Cole syndrome, have progressive bone marrow failure syndrome characterized by the triad of reticulated skin hyperpigmentation, nail dystrophy, and oral leukoplakia. Telomerase dysfunction, ribosome deficiency, and protein synthesis dysfunction evidence exists in this disorder. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy. We report two cases of DC one with left hip avascular necrosis and other with fatal pulmonary complications, multidrug resistant pulmonary tuberculosis. First patient had onset of symptoms at 10 years of age with lacy reticulated pigmentation over face, neck, upper chest, forearms and hands, nail dystrophy, intraoral lichenoid pigmentation and rough, sparse greyish hair and painful left hip joint. Episodes of severe anaemia managed with blood transfusions. No features suggestive of GIT, pulmonary and neurological involvement and no evidence of any malignancy were seen in first case. Avascular necrosis of hip joint is a still rare association with DC. He was managed with supportive treatment and left hip replacement surgery. Second case had skin and mucosal manifestations with total teeth loss by the age of 26 years, sensory neural deafness in left ear, drug resistance pulmonary tubercular infection as bone marrow failure resulted in immunosuppressive state in this case. Ultimately the patient scum to pulmonary manifestations of DC in the form of opportunistic infection.

Keywords: avascular hip necrosis, dyskeratosis congenital, reticular pigmentation, bone morrow failure, drug resistant pulmonary tuberculosis.