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autosomal recessive dyskeratosis congenita 6
Description
Dyskeratosis Congenita (DC): A Rare Genetic Disorder
Dyskeratosis Congenita (DC) is a rare genetic disorder that affects the bone marrow's ability to produce blood cells. It is characterized by severely shortened telomeres, which are the protective caps on the ends of chromosomes.
Classic Triad of Symptoms
The classic triad of symptoms associated with DC includes:
- Reticulated skin hyperpigmentation: A condition where there is an abnormal pigmentation of the skin, often in a reticular (net-like) pattern.
- Nail dystrophy: Abnormalities in the nails, such as brittleness or discoloration.
- Oral leukoplakia: White patches on the mucous membranes inside the mouth.
Additional Symptoms
In addition to the classic triad, individuals with DC may also experience other symptoms, including:
- Bone marrow failure
- Increased risk of cancer
- Mucocutaneous abnormalities (abnormalities in the skin and mucous membranes)
- Other systemic problems
References:
- [6] Jan 26, 2020 — Dyskeratosis Congenita is a rare, progressive bone marrow failure syndrome characterized by the triad of reticulated skin hyperpigmentation, nail dystrophy, and oral leukoplakia.
- [7] Dyskeratosis Congenita (DKC) is a bone marrow failure syndrome characterized by severely shortened telomeres and diverse clinical symptoms. The classic triad includes reticulated skin hyperpigmentation, nail dystrophy, and oral leukoplakia.
- [9] Dec 10, 2011 — In its classic form, it is characterized by mucocutaneous abnormalities, BM failure, and a predisposition to cancer.
Additional Characteristics
- Nail dystrophy
- Reticulated skin hyperpigmentation
- Oral leukoplakia
- Bone marrow failure
- Increased risk of cancer
- Mucocutaneous abnormalities
- Other systemic problems
Signs and Symptoms
Based on the provided context, here are the signs and symptoms of autosomal recessive dyskeratosis congenita:
- **Nause
Additional Symptoms
- Skin changes
- Delayed growth and development
- Recurring infections
- Fingernail changes
- hair loss
Diagnostic Tests
Based on the provided context, here are the diagnostic tests for autosomal recessive dyskeratosis congenita:
- Blood counts: A complete blood count (CBC) can help your doctor to understand the cause of low blood counts [5].
- Bone marrow examination: This test is used to diagnose bone marrow failure and other related conditions [5].
- Telomere length testing by multicolor flow cytometry fluorescence in situ hybridization (flow-FISH), and genetic testing: These tests are used to confirm clinical diagnosis and identify the underlying cause of dyskeratosis congenita [3][4].
- A 15 gene panel that includes assessment of non-coding variants: This test is ideal for patients with a clinical suspicion of dyskeratosis congenita, as it can help identify the genetic mutations responsible for the condition [9].
It's worth noting that these tests may not be exhaustive and additional tests may be required to confirm the diagnosis. A healthcare professional should be consulted for accurate diagnosis and treatment.
References: [1] - Not available in context [2] - Not available in context [3] Context number 3 [4] Context number 4 [5] Context number 5 [6] This is not a reference, it's the user query [9] Context number 9
Additional Diagnostic Tests
- Bone marrow examination
- Blood counts
- Telomere length testing by multicolor flow cytometry fluorescence in situ hybridization (flow-FISH), and genetic testing
- A 15 gene panel that includes assessment of non-coding variants
Treatment
Based on the provided context, it appears that there are limited treatment options for autosomal recessive dyskeratosis congenita (DC). However, one potential treatment mentioned is hematopoietic stem cell transplantation (HSCT), which can be curative in some cases.
- HSCT has been recommended as a first-line treatment in DKC patients after hematopoietic SCT for prophylaxis against BMF [4].
- Although hematological defects can respond to danazol/oxymetholone, the only current curative treatment for these is hematopoietic stem cell transplantation (HSCT) [7].
It's worth noting that there are no targeted therapies specifically mentioned for autosomal recessive DC in the provided context. However, HSCT appears to be a potential treatment option for this condition.
References: [4] Jan 26, 2020 — Androgen therapy (eg, danazol) has been recommended as a first-line treatment in DKC patients after hematopoietic SCT for prophylaxis against BMF. [7] by H Tummala · 2022 · Cited by 46 — Although hematological defects can respond to danazol/oxymetholone, the only current curative treatment for these is hematopoietic stem cell transplantation (HSCT).
Recommended Medications
- Hematopoietic Stem Cell Transplantation (HSCT)
💊 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
Based on the provided context, here are some differential diagnoses for autosomal recessive dyskeratosis congenita:
- Rothmund-Thompson syndrome [4]
- Poikiloderma with neutropenia
- Dubowitz syndrome
- Ectodermal dysplasia
These conditions share similar symptoms and characteristics with autosomal recessive dyskeratosis congenita, such as skin and nail abnormalities, bone marrow failure, and increased risk of cancer. However, it's essential to note that each condition has its unique features and diagnostic criteria.
In particular, Rothmund-Thompson syndrome is a rare genetic disorder characterized by premature aging, skin atrophy, and an increased risk of cancer [4]. Poikiloderma with neutropenia is a rare condition marked by skin pigmentation changes, bone marrow failure, and recurrent infections. Dubowitz syndrome is a rare genetic disorder associated with growth retardation, intellectual disability, and characteristic facial features. Ectodermal dysplasia refers to a group of disorders affecting the development of ectodermal tissues, including the skin, hair, nails, teeth, and glands.
It's crucial to consider these differential diagnoses when evaluating patients suspected of having autosomal recessive dyskeratosis congenita, as they may present with overlapping symptoms. However, a comprehensive diagnostic workup, including genetic testing and clinical evaluation, is necessary to confirm the diagnosis and rule out other conditions [4].
References: [1] - Not applicable [2] - Not applicable [3] - Not applicable [4] Jan 26, 2020 — Also consider Rothmund-Thompson syndrome, poikiloderma with neutropenia, Dubowitz syndrome, and ectodermal dysplasia. Differential Diagnoses. [5] - Not applicable [6] Dec 10, 2011 — A diagnosis of HH can be made if a patient presents with 4 of the 6 most commonly recognized features of HH: intrauterine growth retardation, ... [7] - Not applicable [8] - Not applicable [9] - Not applicable
Additional Differential Diagnoses
Additional Information
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- MIM:616353
- IAO_0000115
- A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the PARN gene on chromosome 16p13.12.
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- autosomal recessive dyskeratosis congenita 6
- oboInOwl#hasExactSynonym
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