Ichthyosis follicularis with alopecia and photophobia syndrome: Difference between revisions
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[[File:X-linked_recessive. | {{SI}} | ||
{{Infobox medical condition | |||
| name = Ichthyosis follicularis with alopecia and photophobia syndrome | |||
| image = [[File:X-linked_recessive.svg|200px]] | |||
| caption = X-linked recessive inheritance | |||
| synonyms = IFAP syndrome | |||
| field = [[Dermatology]], [[Genetics]] | |||
| symptoms = [[Ichthyosis]], [[Alopecia]], [[Photophobia]] | |||
| onset = [[Infancy]] | |||
| duration = [[Lifelong]] | |||
| causes = [[Genetic mutation]] | |||
| risks = [[X-linked recessive inheritance]] | |||
| diagnosis = [[Clinical diagnosis]], [[Genetic testing]] | |||
| differential = [[Other forms of ichthyosis]], [[Alopecia areata]] | |||
| treatment = [[Symptomatic treatment]], [[Moisturizers]], [[Sunglasses]] | |||
| prognosis = [[Variable]], depends on severity | |||
| frequency = [[Rare disease]] | |||
}} | |||
'''Ichthyosis follicularis with alopecia and photophobia syndrome''' (IFAP syndrome) is a rare genetic disorder characterized by the triad of [[ichthyosis]], [[alopecia]], and [[photophobia]]. This syndrome is typically inherited in an [[X-linked recessive]] manner, primarily affecting males, although females can be carriers and may exhibit milder symptoms. | |||
== Clinical Features == | == Clinical Features == | ||
The hallmark features of IFAP syndrome include: | The hallmark features of IFAP syndrome include: | ||
* '''Ichthyosis follicularis''': This is a form of [[ichthyosis]] where the skin becomes dry, rough, and scaly. The scales are often spiny and can be found around hair follicles. | * '''Ichthyosis follicularis''': This is a form of [[ichthyosis]] where the skin becomes dry, rough, and scaly. The scales are often spiny and can be found around hair follicles. | ||
* '''Alopecia''': This refers to the loss of hair, which can be partial or complete. In IFAP syndrome, alopecia is usually congenital and affects the scalp, eyebrows, and eyelashes. | * '''Alopecia''': This refers to the loss of hair, which can be partial or complete. In IFAP syndrome, alopecia is usually congenital and affects the scalp, eyebrows, and eyelashes. | ||
* '''Photophobia''': This is an extreme sensitivity to light, causing discomfort or pain in the eyes when exposed to light. | * '''Photophobia''': This is an extreme sensitivity to light, causing discomfort or pain in the eyes when exposed to light. | ||
Other associated features may include [[keratitis]], [[corneal opacities]], [[mental retardation]], and [[seizures]]. | Other associated features may include [[keratitis]], [[corneal opacities]], [[mental retardation]], and [[seizures]]. | ||
== Genetics == | == Genetics == | ||
IFAP syndrome is caused by mutations in the [[MBTPS2]] gene, which is located on the X chromosome. The MBTPS2 gene encodes a protein involved in the regulation of sterol regulatory element-binding proteins (SREBPs), which are crucial for lipid homeostasis and cell membrane integrity. | IFAP syndrome is caused by mutations in the [[MBTPS2]] gene, which is located on the X chromosome. The MBTPS2 gene encodes a protein involved in the regulation of sterol regulatory element-binding proteins (SREBPs), which are crucial for lipid homeostasis and cell membrane integrity. | ||
== Diagnosis == | == Diagnosis == | ||
Diagnosis of IFAP syndrome is primarily clinical, based on the characteristic triad of symptoms. Genetic testing can confirm the diagnosis by identifying mutations in the MBTPS2 gene. [[Skin biopsy]] and [[histopathological]] examination may also support the diagnosis by revealing characteristic changes in the skin. | Diagnosis of IFAP syndrome is primarily clinical, based on the characteristic triad of symptoms. Genetic testing can confirm the diagnosis by identifying mutations in the MBTPS2 gene. [[Skin biopsy]] and [[histopathological]] examination may also support the diagnosis by revealing characteristic changes in the skin. | ||
== Management == | == Management == | ||
There is no cure for IFAP syndrome, and treatment is mainly symptomatic and supportive. Management strategies include: | There is no cure for IFAP syndrome, and treatment is mainly symptomatic and supportive. Management strategies include: | ||
* Emollients and keratolytic agents to manage ichthyosis | * Emollients and keratolytic agents to manage ichthyosis | ||
* Sunscreen and protective eyewear to alleviate photophobia | * Sunscreen and protective eyewear to alleviate photophobia | ||
* Wigs or other cosmetic solutions for alopecia | * Wigs or other cosmetic solutions for alopecia | ||
* Regular follow-up with dermatologists, ophthalmologists, and other specialists as needed | * Regular follow-up with dermatologists, ophthalmologists, and other specialists as needed | ||
== Prognosis == | == Prognosis == | ||
The prognosis for individuals with IFAP syndrome varies depending on the severity of symptoms and associated complications. Early diagnosis and appropriate management can improve the quality of life for affected individuals. | The prognosis for individuals with IFAP syndrome varies depending on the severity of symptoms and associated complications. Early diagnosis and appropriate management can improve the quality of life for affected individuals. | ||
== See Also == | == See Also == | ||
* [[Ichthyosis]] | * [[Ichthyosis]] | ||
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* [[X-linked recessive inheritance]] | * [[X-linked recessive inheritance]] | ||
* [[MBTPS2]] | * [[MBTPS2]] | ||
== See also == | |||
== | |||
* [[Keratitis]] | * [[Keratitis]] | ||
* [[Corneal opacities]] | * [[Corneal opacities]] | ||
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* [[Skin biopsy]] | * [[Skin biopsy]] | ||
* [[Histopathology]] | * [[Histopathology]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Dermatology]] | [[Category:Dermatology]] | ||
[[Category:Ophthalmology]] | [[Category:Ophthalmology]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
{{Genetic-disorder-stub}} | {{Genetic-disorder-stub}} | ||
{{medicine-stub}} | {{medicine-stub}} | ||
Latest revision as of 04:47, 7 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
| Ichthyosis follicularis with alopecia and photophobia syndrome | |
|---|---|
| |
| Synonyms | IFAP syndrome |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Ichthyosis, Alopecia, Photophobia |
| Complications | N/A |
| Onset | Infancy |
| Duration | Lifelong |
| Types | N/A |
| Causes | Genetic mutation |
| Risks | X-linked recessive inheritance |
| Diagnosis | Clinical diagnosis, Genetic testing |
| Differential diagnosis | Other forms of ichthyosis, Alopecia areata |
| Prevention | N/A |
| Treatment | Symptomatic treatment, Moisturizers, Sunglasses |
| Medication | N/A |
| Prognosis | Variable, depends on severity |
| Frequency | Rare disease |
| Deaths | N/A |
Ichthyosis follicularis with alopecia and photophobia syndrome (IFAP syndrome) is a rare genetic disorder characterized by the triad of ichthyosis, alopecia, and photophobia. This syndrome is typically inherited in an X-linked recessive manner, primarily affecting males, although females can be carriers and may exhibit milder symptoms.
Clinical Features[edit]
The hallmark features of IFAP syndrome include:
- Ichthyosis follicularis: This is a form of ichthyosis where the skin becomes dry, rough, and scaly. The scales are often spiny and can be found around hair follicles.
- Alopecia: This refers to the loss of hair, which can be partial or complete. In IFAP syndrome, alopecia is usually congenital and affects the scalp, eyebrows, and eyelashes.
- Photophobia: This is an extreme sensitivity to light, causing discomfort or pain in the eyes when exposed to light.
Other associated features may include keratitis, corneal opacities, mental retardation, and seizures.
Genetics[edit]
IFAP syndrome is caused by mutations in the MBTPS2 gene, which is located on the X chromosome. The MBTPS2 gene encodes a protein involved in the regulation of sterol regulatory element-binding proteins (SREBPs), which are crucial for lipid homeostasis and cell membrane integrity.
Diagnosis[edit]
Diagnosis of IFAP syndrome is primarily clinical, based on the characteristic triad of symptoms. Genetic testing can confirm the diagnosis by identifying mutations in the MBTPS2 gene. Skin biopsy and histopathological examination may also support the diagnosis by revealing characteristic changes in the skin.
Management[edit]
There is no cure for IFAP syndrome, and treatment is mainly symptomatic and supportive. Management strategies include:
- Emollients and keratolytic agents to manage ichthyosis
- Sunscreen and protective eyewear to alleviate photophobia
- Wigs or other cosmetic solutions for alopecia
- Regular follow-up with dermatologists, ophthalmologists, and other specialists as needed
Prognosis[edit]
The prognosis for individuals with IFAP syndrome varies depending on the severity of symptoms and associated complications. Early diagnosis and appropriate management can improve the quality of life for affected individuals.
See Also[edit]
See also[edit]
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