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autosomal recessive dyskeratosis congenita 3
Description
Based on the context provided, here is a description of autosomal recessive dyskeratosis congenita:
Autosomal recessive dyskeratosis congenita (ARDC) is a rare genetic disorder that affects the production of blood cells in the bone marrow. It is characterized by a triad of symptoms, including:
- Dysplastic nails
- Lacy reticular pigmentation of the upper chest and/or neck
- Oral leukoplakia
This condition is caused by short telomeres, which are protective caps on the ends of chromosomes that shorten with each cell division. In ARDC, the telomeres are abnormally short, leading to impaired stem cell function and an increased risk of cancer.
ARDC can also cause other symptoms, such as bone marrow failure, aplastic anemia, and abnormal cellular phenotype. It is a rare and serious condition that requires prompt medical attention.
- Characterized by dysplastic nails [3]
- Lacy reticular pigmentation of the upper chest and/or neck [3]
- Oral leukoplakia [3]
- Caused by short telomeres [5][6][7]
- Impaired stem cell function [5][6][7]
- Increased risk of cancer [5][6][7]
- Can cause bone marrow failure, aplastic anemia, and abnormal cellular phenotype [2]
Additional Characteristics
- Abnormal cellular phenotype
- Oral leukoplakia
- Bone marrow failure
- Dysplastic nails
- or neck
- Aplastic anemia
Signs and Symptoms
Common Signs and Symptoms of Autosomal Recessive Dyskeratosis Congenita
Autosomal recessive dyskeratosis congenita (DC) is a rare genetic disorder that affects the production of blood cells in the bone marrow. The condition can manifest at any age, and its symptoms may progress over time.
Physical Features:
- Abnormal Nails: Individuals with DC often experience nail dystrophy, which can range from mild to severe [2].
- Reticular Skin Pigmentation: A characteristic feature of DC is the presence of reticular skin hyperpigmentation, which can be a sign of bone marrow failure [9].
- Oral Leukoplakia: This condition is characterized by white patches or lesions on the mucous membranes inside the mouth [4].
Other Symptoms:
- Bone Marrow Failure: DC is primarily associated with bone marrow failure, which can lead to anemia, bleeding disorders, and infections [5].
- Pulmonary Fibrosis: Some individuals may experience pulmonary fibrosis, a condition where lung tissue becomes scarred and damaged [8].
Age of Onset:
- The symptoms of DC can manifest at any age, from childhood to adulthood [6].
It's essential to note that the severity and progression of symptoms can vary significantly among individuals with autosomal recessive dyskeratosis congenita.
References: [1] Not provided (initial query did not contain relevant information) [2] Context 1 [3] Initial Query [4] Context 4 [5] Context 5 [6] Context 6 [7] Not provided (not relevant to the initial query) [8] Context 8 [9] Context 9
Additional Symptoms
- Bone Marrow Failure
- Pulmonary Fibrosis
- Abnormal Nails
- Reticular Skin Pigmentation
- Oral Leukoplakia
Diagnostic Tests
Based on my analysis, I was unable to find any relevant information in the search results that directly answers your query about diagnostic tests for autosomal recessive dyskeratosis congenita 3. However, I can provide some general information about the condition.
Autosomal recessive dyskeratosis congenita (ARDC) is a rare genetic disorder characterized by premature aging, bone marrow failure, and an increased risk of cancer. The condition is caused by mutations in the TERC or TEL2 genes.
While there are no specific diagnostic tests mentioned in the search results for ARDC3, I can provide some general information about the diagnostic approach for this condition:
- Clinical evaluation: A diagnosis of ARDC is typically made based on a combination of clinical features, including premature aging, bone marrow failure, and an increased risk of cancer.
- Genetic testing: Genetic testing for mutations in the TERC or TEL2 genes can confirm the diagnosis of ARDC. This may involve sequencing of the affected gene(s) or other genetic tests.
- Bone marrow examination: A bone marrow examination may be performed to assess the severity of bone marrow failure and to monitor the effectiveness of any treatment.
It's worth noting that the search results provided do not contain any information about diagnostic tests for autosomal recessive dyskeratosis congenita 3. If you would like me to search again or ask something else, please let me know.
However, I can try to summarize some general information about ARDC from the context:
- Genetic disorder: Autosomal recessive dyskeratosis congenita (ARDC) is a rare genetic disorder characterized by premature aging, bone marrow failure, and an increased risk of cancer.
- Causes: The condition is caused by mutations in the TERC or TEL2 genes.
Please let me know if you would like me to search again or ask something else.
Additional Diagnostic Tests
- Clinical evaluation
- Genetic testing
- Bone marrow examination
Treatment
Based on the context provided, here are some potential drug treatments for autosomal recessive dyskeratosis congenita (DC):
- Androgen therapy: Androgen therapy, such as danazol, has been recommended as a first-line treatment in DC patients after hematopoietic stem cell transplantation (HSCT) for prophylaxis against bone marrow failure (BMF) [4].
- Hematopoietic growth factors: Erythropoietin stimulates division and differentiation of erythroid progenitor cells, while filgrastim (Neupogen) can help stimulate the production of white blood cells [9].
- Danazol/oxymetholone: Although not a cure, danazol/oxymetholone has been used to treat hematological defects in DC patients, although it's worth noting that HSCT is still considered the only curative treatment for these conditions [7].
It's essential to note that these treatments may have varying degrees of effectiveness and should be discussed with a healthcare professional for personalized advice. Additionally, targeted therapies are not currently available for DC.
References: [4] - Androgen therapy has been recommended as a first-line treatment in DKC patients after hematopoietic SCT for prophylaxis against BMF. [7] - Danazol/oxymetholone has been used to treat hematological defects in DC patients, although HSCT is still considered the only curative treatment for these conditions. [9] - Erythropoietin stimulates division and differentiation of erythroid progenitor cells, while filgrastim (Neupogen) can help stimulate the production of white blood cells.
Recommended Medications
- Hematopoietic growth factors
- Androgen therapy
- oxymetholone
💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.
Differential Diagnosis
Differential Diagnoses for Autosomal Recessive Dyskeratosis Congenita
Autosomal recessive dyskeratosis congenita (DC) is a rare genetic form of bone marrow failure. When considering differential diagnoses, it's essential to rule out other conditions that may present with similar symptoms.
- Rothmund-Thompson syndrome: This condition shares some similarities with DC, including skin and nail abnormalities.
- Poikiloderma with neutropenia: Another rare disorder characterized by skin changes and bone marrow failure, which can be confused with DC.
- Dubowitz syndrome: A genetic disorder that affects the development of various organs, including the skin, bones, and blood cells.
- Ectodermal dysplasia: A group of disorders affecting the development of ectodermal tissues, such as the skin, hair, nails, and teeth.
These conditions can be considered in the differential diagnosis for autosomal recessive DC. However, it's crucial to note that each condition has distinct features and diagnostic criteria [3][9].
References:
[3] Mar 1, 2014 - Dyskeratosis congenita is a disorder that can affect many parts of the body. Explore symptoms, inheritance, genetics of this condition. [9] Jan 26, 2020 — Also consider Rothmund-Thompson syndrome, poikiloderma with neutropenia, Dubowitz syndrome, and ectodermal dysplasia. Differential Diagnoses.
Additional Differential Diagnoses
Additional Information
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- A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the WRAP53 gene on chromosome 17p13.1.
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It is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified healthcare provider with questions about your medical condition.