Dyskeratosis congenita: report of two cases with distinct clinical presentations.
نویسندگان
چکیده
Dyskeratosis congenita (DC) is a rare, inheritable disorder characterized by a triad of abnormal skin pigmentation, nail dystrophy and mucosal leukoplakia. Inheritance is mainly X-linked recessive; however, autosomal dominant and recessive forms have also been reported. Here, we report two cases of DC with distinct clinical presentations together with different genetic screening results, which emphasize the quite heterogeneous clinical as well as genetic nature of DC.
منابع مشابه
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 in...
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متن کاملDyskeratosis Congenita: A Report of Two Cases
Oral manifestations play an important role in the diagnosis of many systemic conditions. Dyskeratosis congenita (DC) is a rare genodermatosis which exhibits oral leukoplakia, nail dystrophy, and reticular skin pigmentations as its primary features. DC has increased risk of developing constitutional anemias and malignancies and early diagnosis enables the patient to be monitored and proper inter...
متن کاملDyskeratosis Congenita; a Case Report and Review of Literature
Dyskeratosis congenita, a rare inherited condition, is estimated to occur in 1 in 1 million people. The disease is characterised by a classic triad: nail dystrophy, reticulate skin pigmentation, and oral leukoplakia. These patients may also exhibit variable extend of pulmonary, gastrointestinal, genitourinary, cerebral, and dental involvement. Early mortality is often associated with bone marro...
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ورودعنوان ژورنال:
- The Turkish journal of pediatrics
دوره 50 6 شماره
صفحات -
تاریخ انتشار 2008