ArticleOman medical journal2013
Dyskeratosis congenita- management and review of complications: a case report.
Article in Oman medical journal, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
6 citing papers in PubMed.
- Cirrhosis of Liver in Patients With Dyskeratosis Congenita: A Report of Two Cases.Clinical case reports · 2026Article
- Avascular Necrosis and Minimal Trauma Fractures in Telomere Biology Disorders.Clinical genetics · 2026Article
- The Magic Triangle in Oral Potentially Malignant Disorders: Vitamin D, Vitamin D Receptor, and Malignancy.International journal of molecular sciences · 2023Review
- Genodermatoses.Journal of pharmacy & bioallied sciences · 2015Review
- Kindler syndrome: a close mimic of dyskeratosis congenita and the need to distinguish the two clinical entities.Oman medical journal · 2014Article
- The diagnosis and treatment of dyskeratosis congenita: a review.Journal of blood medicine · 2014Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Among the inherited bone marrow failure disorders, dyskeratosis congenita is an X-linked inherited disorder arising as a consequence of short telomere and mutations in telomere biology. Production of the altered protein dyskerin, leads to vulnerable skin, nails, and teeth which lead to higher permeability for noxious agents which can induce carcinogenesis accounting for the classical triad of skin pigmentation, nail dystrophy and oral leukoplakia. This condition is fatal and patients succumb to aplastic anemia, malignancy or immunocompromised state. We present a young male with the classic clinical triad and avascular necrosis of both femoral heads, with no evidence of hematologic anomaly or any malignancy. He was managed for osteonecrosis with uncemented total hip arthroplasty for the symptomatic left hip. Our case represents a benign form of such a fatal and rare condition, which if detected and managed early can result in improved quality of life for the patient suffering from this disorder. This patient is under our meticulous follow-up for the last 2 years in order to determine any late development of complications before being labelled as a variant of this syndrome.
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Registered trials
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