Dyskeratosis Congenita; a Case Report and Review of Literature
نویسنده
چکیده
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 marrow failure, infections, fatal pulmonary complications, or malignancy. More than 200 individuals have been reported in the literature with dyskeratosis congenita. Since most cases are inherited as X linked recessive disorder DKC in female is rare. Here we present a case of dyskeratosis congenita in a 16 year old female patient, who presented all features of classic triad and few additional skeletal features as well.
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...
متن کاملDyskeratosis congenita. Report of a case with literature review.
Leukoplakic lesion is not uncommon in clinical practice but its occurrence as a component of a syndrome is rare. Dyskeratosis congenita is a rare genodermatosis, which is characterized by triad of skin pigmentation, nail dystrophy and leukoplakic lesion in the oral cavity. It is important for dentists to now about Dyskeratosis Congenita because these leukoplakic lesions can spontaneously underg...
متن کاملDyskeratosis congenita: clinical features and genetic aspects. Report of a family and review of the literature.
A large family with dyskeratosis congenita is reported. There were nine affected males, the findings in five of who are reported. We review 46 cases selected from the literature. The cardinal findings of this inherited multisystem disorder are delineated from these 51 cases. The complications of the disease, including opportunistic infection, are described. The parallel is made between dyskerat...
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 کاملInterstitial Lung Disease in a Patient with Dyskeratosis Congenita
Dyskeratosis congenita is a rare congenital disorder characterized by a triad of reticular pigmentation of the skin, dystrophic nails, and leukoplakia of the mucous membrane. Sometimes it is associated with bone marrow failure, secondary malignancy and interstitial lung disease. Though it is rare, Dyskeratosis congenita is diagnosed relatively easily when clinicians suspect it. It can be diagno...
متن کامل