DYSKERATOSIS CONGENITA Meaning and
Definition
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Dyskeratosis Congenita (DC) is a rare inherited genetic disorder characterized by a range of physical abnormalities and progressive multi-systemic complications. It is primarily distinguished by the early onset of specific disorders affecting particular tissues like the skin, nails, and mucous membranes, among others.
DC is primarily caused by mutations in genes related to telomere maintenance, the protective cap located at the ends of chromosomes. Telomeres play a crucial role in maintaining chromosomal stability, and mutations in DC-related genes contribute to shortened telomeres and abnormalities in cellular function.
Clinically, the disease commonly manifests as skin abnormalities, such as hyperpigmentation, dystrophic nails, and leukoplakia (white patches) in the mouth and other mucosal surfaces. Other frequent findings include bone marrow failure, resulting in low blood count, progressive lung disease, liver fibrosis, and an increased risk of developing cancer, mainly in the head and neck.
DC is primarily inherited in an X-linked recessive manner, but autosomal dominant and autosomal recessive patterns have also been reported. Diagnosis is often based on clinical findings, including a range of physical abnormalities like nail changes, skin pigmentation, and oral leukoplakia. Genetic testing is also critical to confirm the diagnosis and identify the specific causative mutation.
Management and treatment primarily focus on addressing and monitoring individual symptoms and complications as they arise. Hematopoietic stem cell transplantation, bone marrow transplantation, and other therapies are used when bone marrow failure occurs. Regular cancer screenings and appropriate management are crucial due to the increased risk of developing malignancies associated with this disorder.
Common Misspellings for DYSKERATOSIS CONGENITA
- syskeratosis congenita
- xyskeratosis congenita
- cyskeratosis congenita
- fyskeratosis congenita
- ryskeratosis congenita
- eyskeratosis congenita
- dtskeratosis congenita
- dgskeratosis congenita
- dhskeratosis congenita
- duskeratosis congenita
- d7skeratosis congenita
- d6skeratosis congenita
- dyakeratosis congenita
- dyzkeratosis congenita
- dyxkeratosis congenita
- dydkeratosis congenita
- dyekeratosis congenita
- dywkeratosis congenita
- dysjeratosis congenita
- dysmeratosis congenita
Etymology of DYSKERATOSIS CONGENITA
The word "Dyskeratosis Congenita" is derived from two Greek words: "dys" meaning "abnormal" or "difficult", "keratosis" meaning "thickening or hardening of the skin", and "congenita" meaning "congenital" or "present from birth".
"Dyskeratosis Congenita" is a rare genetic disorder characterized by abnormal changes in the skin, nails, and mucous membranes. The name of the condition reflects its key features, such as the abnormal keratinization (thickening) of the skin and mucous membranes, which are present from birth (congenital).
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