Dyskeratosis: Difference between revisions
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{{Infobox medical condition | |||
| name = Dyskeratosis | |||
| synonyms = | |||
| pronunciation = | |||
| specialty = [[Dermatology]], [[Hematology]] | |||
| symptoms = [[Skin pigmentation]], [[nail dystrophy]], [[oral leukoplakia]] | |||
| complications = [[Bone marrow failure]], [[pulmonary fibrosis]], [[liver cirrhosis]] | |||
| onset = Childhood or adolescence | |||
| duration = Chronic | |||
| causes = Genetic mutations (e.g., [[DKC1]], [[TERT]], [[TERC]]) | |||
| risks = Family history, genetic predisposition | |||
| diagnosis = Clinical evaluation, genetic testing | |||
| differential = [[Fanconi anemia]], [[aplastic anemia]], [[idiopathic pulmonary fibrosis]] | |||
| prevention = Genetic counseling | |||
| treatment = [[Hematopoietic stem cell transplantation]], [[androgen therapy]], [[supportive care]] | |||
| medication = [[Androgens]], [[growth factors]] | |||
| prognosis = Variable, depends on severity and complications | |||
| frequency = Rare | |||
}} | |||
'''Dyskeratosis''' is a rare, often hereditary, medical condition that affects the skin, nails, and mucous membranes. It is characterized by abnormal skin pigmentation, nail dystrophy, and leukoplakia (white patches) in the mouth. Dyskeratosis is associated with a number of other medical conditions, including [[pulmonary fibrosis]], [[bone marrow failure]], and an increased risk of [[cancer]]. | '''Dyskeratosis''' is a rare, often hereditary, medical condition that affects the skin, nails, and mucous membranes. It is characterized by abnormal skin pigmentation, nail dystrophy, and leukoplakia (white patches) in the mouth. Dyskeratosis is associated with a number of other medical conditions, including [[pulmonary fibrosis]], [[bone marrow failure]], and an increased risk of [[cancer]]. | ||
== Symptoms and signs == | == Symptoms and signs == | ||
The symptoms of dyskeratosis can vary widely, but often include: | The symptoms of dyskeratosis can vary widely, but often include: | ||
| Line 8: | Line 27: | ||
* [[Premature aging]] of the skin | * [[Premature aging]] of the skin | ||
* Increased risk of [[cancer]], particularly skin cancer and cancer of the mouth | * Increased risk of [[cancer]], particularly skin cancer and cancer of the mouth | ||
== Causes == | == Causes == | ||
Dyskeratosis is often hereditary, caused by mutations in a number of different genes. These include the [[DKC1]], [[TERC]], and [[TERT]] genes, among others. These genes are involved in the maintenance of [[telomeres]], which are the protective caps on the ends of chromosomes. When these genes are mutated, the telomeres can become shortened, leading to the symptoms of dyskeratosis. | Dyskeratosis is often hereditary, caused by mutations in a number of different genes. These include the [[DKC1]], [[TERC]], and [[TERT]] genes, among others. These genes are involved in the maintenance of [[telomeres]], which are the protective caps on the ends of chromosomes. When these genes are mutated, the telomeres can become shortened, leading to the symptoms of dyskeratosis. | ||
== Diagnosis == | == Diagnosis == | ||
Diagnosis of dyskeratosis is often based on the characteristic physical signs, such as skin pigmentation abnormalities, nail dystrophy, and leukoplakia. Genetic testing can also be used to confirm the diagnosis and identify the specific gene mutation. | Diagnosis of dyskeratosis is often based on the characteristic physical signs, such as skin pigmentation abnormalities, nail dystrophy, and leukoplakia. Genetic testing can also be used to confirm the diagnosis and identify the specific gene mutation. | ||
== Treatment == | == Treatment == | ||
There is currently no cure for dyskeratosis, and treatment is focused on managing the symptoms and preventing complications. This can include regular skin checks for signs of cancer, treatments to manage skin and nail abnormalities, and in some cases, bone marrow transplantation. | There is currently no cure for dyskeratosis, and treatment is focused on managing the symptoms and preventing complications. This can include regular skin checks for signs of cancer, treatments to manage skin and nail abnormalities, and in some cases, bone marrow transplantation. | ||
== See also == | == See also == | ||
* [[Telomere]] | * [[Telomere]] | ||
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* [[Skin pigmentation]] | * [[Skin pigmentation]] | ||
* [[Leukoplakia]] | * [[Leukoplakia]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Dermatologic terminology]] | [[Category:Dermatologic terminology]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
{{medicine-stub}} | {{medicine-stub}} | ||
{{No image}} | {{No image}} | ||
{{No image}} | {{No image}} | ||
Latest revision as of 01:25, 4 April 2025
| Dyskeratosis | |
|---|---|
| Synonyms | |
| Pronounce | N/A |
| Specialty | Dermatology, Hematology |
| Symptoms | Skin pigmentation, nail dystrophy, oral leukoplakia |
| Complications | Bone marrow failure, pulmonary fibrosis, liver cirrhosis |
| Onset | Childhood or adolescence |
| Duration | Chronic |
| Types | N/A |
| Causes | Genetic mutations (e.g., DKC1, TERT, TERC) |
| Risks | Family history, genetic predisposition |
| Diagnosis | Clinical evaluation, genetic testing |
| Differential diagnosis | Fanconi anemia, aplastic anemia, idiopathic pulmonary fibrosis |
| Prevention | Genetic counseling |
| Treatment | Hematopoietic stem cell transplantation, androgen therapy, supportive care |
| Medication | Androgens, growth factors |
| Prognosis | Variable, depends on severity and complications |
| Frequency | Rare |
| Deaths | N/A |
Dyskeratosis is a rare, often hereditary, medical condition that affects the skin, nails, and mucous membranes. It is characterized by abnormal skin pigmentation, nail dystrophy, and leukoplakia (white patches) in the mouth. Dyskeratosis is associated with a number of other medical conditions, including pulmonary fibrosis, bone marrow failure, and an increased risk of cancer.
Symptoms and signs[edit]
The symptoms of dyskeratosis can vary widely, but often include:
- Skin pigmentation abnormalities, often in a lacy or reticular pattern
- Nail dystrophy, which can lead to loss of nails
- Leukoplakia, or white patches, in the mouth
- Premature aging of the skin
- Increased risk of cancer, particularly skin cancer and cancer of the mouth
Causes[edit]
Dyskeratosis is often hereditary, caused by mutations in a number of different genes. These include the DKC1, TERC, and TERT genes, among others. These genes are involved in the maintenance of telomeres, which are the protective caps on the ends of chromosomes. When these genes are mutated, the telomeres can become shortened, leading to the symptoms of dyskeratosis.
Diagnosis[edit]
Diagnosis of dyskeratosis is often based on the characteristic physical signs, such as skin pigmentation abnormalities, nail dystrophy, and leukoplakia. Genetic testing can also be used to confirm the diagnosis and identify the specific gene mutation.
Treatment[edit]
There is currently no cure for dyskeratosis, and treatment is focused on managing the symptoms and preventing complications. This can include regular skin checks for signs of cancer, treatments to manage skin and nail abnormalities, and in some cases, bone marrow transplantation.
