Report of Two Cases of Zinsser-Cole- Engman (Dyskeratosis Congenita) Syndrome- A Rare Entity
نویسنده
چکیده
ZinsserCole-Engman syndrome, also known as dyskeratosis congenita, is a rare genetic disorder characterized by triad of pigmentation and atrophy of the skin, leukokeratoses of oral mucosa and nail dystrophy along with bone marrow failure and predisposition to cancer [1]. The condition can be inherited as autosomal recessive, autosomal dominant and rarely X linked. It is proposed that mutations in dyskerin gene (DKC1) and telomerase RNA component (TERC) result in chromosomal instability and early cellular senescence with a progression to cancer [2]. Dermatologists should be able to recognize the early mucocutaneous features to arrive at the diagnosis, then, aiding frequent follow up to detect the malignancies at the earliest.
منابع مشابه
Zinsser-Cole-Engmann syndrome: A rare case report with literature review
Zinsser-Cole-Engmann syndrome, more commonly known as Dyskeratosis Congenita, is a heritable genodermatosis having an estimated incidence of 1 in 1 million people. It is important for an oral physician to be aware of this condition as oral leukoplakia occurs in this condition as part of a classic triad along with reticulate skin pigmentation and nail dystrophy. Besides these, there may be myria...
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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...
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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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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 ...
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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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