X-linked ichthyosis: Difference between revisions
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{{Infobox medical condition | |||
| name = X-linked ichthyosis | |||
| image = [[File:X-linked_recessive.svg|200px]] | |||
| caption = X-linked recessive pattern | |||
| synonyms = Steroid sulfatase deficiency | |||
| pronounce = | |||
| specialty = [[Dermatology]], [[Genetics]] | |||
| symptoms = [[Dry skin]], [[scaling]], [[corneal opacities]] | |||
| onset = Birth or early infancy | |||
| duration = Lifelong | |||
| causes = [[Genetic mutation]] in the [[STS gene]] | |||
| risks = Male gender (due to X-linked inheritance) | |||
| diagnosis = [[Clinical examination]], [[genetic testing]] | |||
| differential = [[Ichthyosis vulgaris]], [[Netherton syndrome]], [[Lamellar ichthyosis]] | |||
| treatment = [[Moisturizers]], [[keratolytics]] | |||
| frequency = 1 in 2,000 to 6,000 males | |||
| deaths = Rarely life-threatening | |||
}} | |||
[[File:Boy_with_X_linked_Ichthyosis_rotated.JPG|Boy with X-linked Ichthyosis|thumb|left]] | |||
[[File:IchthyosisXlinked2.JPG|Ichthyosis X-linked|thumb]] | |||
[[File:DHEA_sulfate.png|DHEA sulfate|thumb|left]] | |||
'''X-linked ichthyosis''' is a [[genetic disorder]] characterized by dry, scaly skin. It is one of the most common forms of [[ichthyosis]], a group of skin disorders that lead to dry, thickened, and scaly skin. X-linked ichthyosis is caused by a deficiency of the enzyme steroid sulfatase, which is due to a mutation in the [[STS gene]] located on the X chromosome. | '''X-linked ichthyosis''' is a [[genetic disorder]] characterized by dry, scaly skin. It is one of the most common forms of [[ichthyosis]], a group of skin disorders that lead to dry, thickened, and scaly skin. X-linked ichthyosis is caused by a deficiency of the enzyme steroid sulfatase, which is due to a mutation in the [[STS gene]] located on the X chromosome. | ||
==Etiology== | ==Etiology== | ||
X-linked ichthyosis is caused by a deletion or mutation in the [[STS gene]] (steroid sulfatase gene) on the X chromosome. This gene is responsible for the production of the enzyme steroid sulfatase, which is involved in the metabolism of cholesterol sulfate. The deficiency of this enzyme leads to the accumulation of cholesterol sulfate in the outer layer of the skin, resulting in the characteristic scaling. | X-linked ichthyosis is caused by a deletion or mutation in the [[STS gene]] (steroid sulfatase gene) on the X chromosome. This gene is responsible for the production of the enzyme steroid sulfatase, which is involved in the metabolism of cholesterol sulfate. The deficiency of this enzyme leads to the accumulation of cholesterol sulfate in the outer layer of the skin, resulting in the characteristic scaling. | ||
==Epidemiology== | ==Epidemiology== | ||
X-linked ichthyosis affects approximately 1 in 2,000 to 6,000 males worldwide. It is an X-linked recessive condition, meaning it primarily affects males, while females are typically carriers of the genetic mutation. | X-linked ichthyosis affects approximately 1 in 2,000 to 6,000 males worldwide. It is an X-linked recessive condition, meaning it primarily affects males, while females are typically carriers of the genetic mutation. | ||
==Clinical Features== | ==Clinical Features== | ||
The primary symptom of X-linked ichthyosis is the presence of dry, scaly skin. The scales are often dark and adhere tightly to the skin, particularly on the trunk, neck, and extremities. The face, palms, and soles are usually spared. Other features may include: | The primary symptom of X-linked ichthyosis is the presence of dry, scaly skin. The scales are often dark and adhere tightly to the skin, particularly on the trunk, neck, and extremities. The face, palms, and soles are usually spared. Other features may include: | ||
* [[Corneal opacities]]: These are asymptomatic and do not affect vision. | * [[Corneal opacities]]: These are asymptomatic and do not affect vision. | ||
* [[Cryptorchidism]]: Undescended testicles may occur in some affected males. | * [[Cryptorchidism]]: Undescended testicles may occur in some affected males. | ||
==Diagnosis== | ==Diagnosis== | ||
Diagnosis of X-linked ichthyosis is primarily clinical, based on the characteristic skin findings. Genetic testing can confirm the diagnosis by identifying deletions or mutations in the [[STS gene]]. Prenatal diagnosis is possible if there is a known family history of the condition. | Diagnosis of X-linked ichthyosis is primarily clinical, based on the characteristic skin findings. Genetic testing can confirm the diagnosis by identifying deletions or mutations in the [[STS gene]]. Prenatal diagnosis is possible if there is a known family history of the condition. | ||
==Differential Diagnosis== | ==Differential Diagnosis== | ||
X-linked ichthyosis should be differentiated from other forms of ichthyosis, such as: | X-linked ichthyosis should be differentiated from other forms of ichthyosis, such as: | ||
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* [[Lamellar ichthyosis]] | * [[Lamellar ichthyosis]] | ||
* [[Congenital ichthyosiform erythroderma]] | * [[Congenital ichthyosiform erythroderma]] | ||
==Management== | ==Management== | ||
There is no cure for X-linked ichthyosis, but symptoms can be managed with: | There is no cure for X-linked ichthyosis, but symptoms can be managed with: | ||
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* [[Keratolytics]]: Agents such as salicylic acid can help to remove scales. | * [[Keratolytics]]: Agents such as salicylic acid can help to remove scales. | ||
* [[Topical retinoids]]: These may be used in severe cases to reduce scaling. | * [[Topical retinoids]]: These may be used in severe cases to reduce scaling. | ||
==Prognosis== | ==Prognosis== | ||
X-linked ichthyosis is a lifelong condition, but it does not affect life expectancy. The severity of symptoms can vary, and some individuals may experience improvement with age. | X-linked ichthyosis is a lifelong condition, but it does not affect life expectancy. The severity of symptoms can vary, and some individuals may experience improvement with age. | ||
==Genetic Counseling== | ==Genetic Counseling== | ||
Genetic counseling is recommended for families affected by X-linked ichthyosis. Female carriers have a 50% chance of passing the mutated gene to their sons, who will be affected, and a 50% chance of passing it to their daughters, who will be carriers. | Genetic counseling is recommended for families affected by X-linked ichthyosis. Female carriers have a 50% chance of passing the mutated gene to their sons, who will be affected, and a 50% chance of passing it to their daughters, who will be carriers. | ||
==Research Directions== | ==Research Directions== | ||
Current research is focused on understanding the molecular mechanisms of X-linked ichthyosis and developing targeted therapies. Gene therapy and enzyme replacement therapy are potential future treatments. | Current research is focused on understanding the molecular mechanisms of X-linked ichthyosis and developing targeted therapies. Gene therapy and enzyme replacement therapy are potential future treatments. | ||
==See Also== | ==See Also== | ||
* [[Ichthyosis]] | * [[Ichthyosis]] | ||
* [[Genetic disorders]] | * [[Genetic disorders]] | ||
* [[Dermatology]] | * [[Dermatology]] | ||
==External Links== | ==External Links== | ||
* [https://www.genome.gov/Genetic-Disorders/X-linked-Ichthyosis National Human Genome Research Institute] | * [https://www.genome.gov/Genetic-Disorders/X-linked-Ichthyosis National Human Genome Research Institute] | ||
* [https://www.dermnetnz.org/topics/x-linked-ichthyosis/ DermNet NZ] | * [https://www.dermnetnz.org/topics/x-linked-ichthyosis/ DermNet NZ] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Dermatology]] | [[Category:Dermatology]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
Latest revision as of 08:55, 13 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD medical weight loss NYC and sleep center NYC
| X-linked ichthyosis | |
|---|---|
| |
| Synonyms | Steroid sulfatase deficiency |
| Pronounce | |
| Specialty | Dermatology, Genetics |
| Symptoms | Dry skin, scaling, corneal opacities |
| Complications | N/A |
| Onset | Birth or early infancy |
| Duration | Lifelong |
| Types | N/A |
| Causes | Genetic mutation in the STS gene |
| Risks | Male gender (due to X-linked inheritance) |
| Diagnosis | Clinical examination, genetic testing |
| Differential diagnosis | Ichthyosis vulgaris, Netherton syndrome, Lamellar ichthyosis |
| Prevention | N/A |
| Treatment | Moisturizers, keratolytics |
| Medication | N/A |
| Prognosis | N/A |
| Frequency | 1 in 2,000 to 6,000 males |
| Deaths | Rarely life-threatening |
X-linked ichthyosis is a genetic disorder characterized by dry, scaly skin. It is one of the most common forms of ichthyosis, a group of skin disorders that lead to dry, thickened, and scaly skin. X-linked ichthyosis is caused by a deficiency of the enzyme steroid sulfatase, which is due to a mutation in the STS gene located on the X chromosome.
Etiology[edit]
X-linked ichthyosis is caused by a deletion or mutation in the STS gene (steroid sulfatase gene) on the X chromosome. This gene is responsible for the production of the enzyme steroid sulfatase, which is involved in the metabolism of cholesterol sulfate. The deficiency of this enzyme leads to the accumulation of cholesterol sulfate in the outer layer of the skin, resulting in the characteristic scaling.
Epidemiology[edit]
X-linked ichthyosis affects approximately 1 in 2,000 to 6,000 males worldwide. It is an X-linked recessive condition, meaning it primarily affects males, while females are typically carriers of the genetic mutation.
Clinical Features[edit]
The primary symptom of X-linked ichthyosis is the presence of dry, scaly skin. The scales are often dark and adhere tightly to the skin, particularly on the trunk, neck, and extremities. The face, palms, and soles are usually spared. Other features may include:
- Corneal opacities: These are asymptomatic and do not affect vision.
- Cryptorchidism: Undescended testicles may occur in some affected males.
Diagnosis[edit]
Diagnosis of X-linked ichthyosis is primarily clinical, based on the characteristic skin findings. Genetic testing can confirm the diagnosis by identifying deletions or mutations in the STS gene. Prenatal diagnosis is possible if there is a known family history of the condition.
Differential Diagnosis[edit]
X-linked ichthyosis should be differentiated from other forms of ichthyosis, such as:
Management[edit]
There is no cure for X-linked ichthyosis, but symptoms can be managed with:
- Emollients: These help to moisturize the skin and reduce scaling.
- Keratolytics: Agents such as salicylic acid can help to remove scales.
- Topical retinoids: These may be used in severe cases to reduce scaling.
Prognosis[edit]
X-linked ichthyosis is a lifelong condition, but it does not affect life expectancy. The severity of symptoms can vary, and some individuals may experience improvement with age.
Genetic Counseling[edit]
Genetic counseling is recommended for families affected by X-linked ichthyosis. Female carriers have a 50% chance of passing the mutated gene to their sons, who will be affected, and a 50% chance of passing it to their daughters, who will be carriers.
Research Directions[edit]
Current research is focused on understanding the molecular mechanisms of X-linked ichthyosis and developing targeted therapies. Gene therapy and enzyme replacement therapy are potential future treatments.
