دیسکراتوز مادرزادی: گزارش موردی

Background: Dyskeratosis Congenita (DC) is a rare inherited disease with an incidence of approximately one case per million population. The disease is characterized by a classic triad: nail changes, color reticulated skin and oral leukoplakia. In these patients, premature death is often associated with bone marrow failure, infections, pulmonary complications, or malignancy. Three patterns of inheritance for dyskeratosis congenita have been reports, X-linked recessive trait, autosomal dominant and recessive trait. The present study is a case report of an adoloscent patient with dyskeratosis congenita. Case presentation: The patient is a 16 year old boy living in Arak without history of any illness was referred with fever, chills, malaise and admitted to Vali-e-Asr Hospital with initial diagnosis of sepsis. The patient was treated with broad-spectrum antibiotics. In tests, showed pancytopenia. Bone marrow biopsy was performed. Blood and urine culture were negative, rheumatologic lab test and other tests were normal. Ultrsonography of abdomen and pelvis showed splenomegaly. In physical examination, diffuse hypopigmented lesions on the trunk and extermities, nails dystrophy and oral mucosal leukoplakia were observed. Skin biopsy was consistent with DC. Conclusion: The skin and oral mucosal lesions have an impact role in the diagnosis of systemic disease. Early diagnosis and treatment of patients with DC are important in improving clinical outcomes.