Camisa disease: Difference between revisions
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[[file:Autosomal_dominant_-_en.svg|thumb | {{SI}} | ||
{{Infobox medical condition | |||
| name = Camisa disease | |||
| image = [[File:Autosomal_dominant_-_en.svg|200px]] | |||
| caption = Camisa disease is inherited in an [[autosomal dominant]] pattern. | |||
| synonyms = [[Vohwinkel syndrome]] with [[Ichthyosis|ichthyosis]] | |||
| field = [[Dermatology]] | |||
| symptoms = [[Hyperkeratosis]], [[constriction band]]s, [[hearing loss]] | |||
| complications = [[Digital autoamputation]] | |||
| onset = Childhood | |||
| duration = Lifelong | |||
| causes = [[Genetic mutation]] in the [[loricrin]] gene | |||
| risks = Family history | |||
| diagnosis = [[Clinical diagnosis]], [[genetic testing]] | |||
| differential = [[Vohwinkel syndrome]], [[Ichthyosis vulgaris]] | |||
| treatment = [[Emollients]], [[keratolytics]], [[retinoids]] | |||
| medication = [[Acitretin]], [[Isotretinoin]] | |||
| prognosis = Variable, depends on severity | |||
| frequency = Rare | |||
}} | |||
[[file:Autosomal_dominant_-_en.svg|left|thumb]] '''Camisa disease''' is a rare [[genetic disorder]] that primarily affects the [[skin]] and [[nails]]. It is also known as [[Vohwinkel syndrome]] with ichthyosis. This condition is characterized by the presence of [[honeycomb]]-like [[hyperkeratosis]] on the palms and soles, along with [[ichthyosis]] or widespread scaling of the skin. | |||
==Presentation== | ==Presentation== | ||
Individuals with Camisa disease typically present with thickened skin on the palms and soles, which may have a honeycomb appearance. This condition is often accompanied by [[ichthyosis]], which is characterized by dry, scaly skin. The severity of the skin symptoms can vary widely among affected individuals. | Individuals with Camisa disease typically present with thickened skin on the palms and soles, which may have a honeycomb appearance. This condition is often accompanied by [[ichthyosis]], which is characterized by dry, scaly skin. The severity of the skin symptoms can vary widely among affected individuals. | ||
==Genetics== | ==Genetics== | ||
Camisa disease is inherited in an [[autosomal dominant]] manner, meaning that a single copy of the altered gene in each cell is sufficient to cause the disorder. The specific gene associated with Camisa disease is [[loricrin]], which plays a crucial role in the formation of the [[epidermal barrier]]. | Camisa disease is inherited in an [[autosomal dominant]] manner, meaning that a single copy of the altered gene in each cell is sufficient to cause the disorder. The specific gene associated with Camisa disease is [[loricrin]], which plays a crucial role in the formation of the [[epidermal barrier]]. | ||
==Diagnosis== | ==Diagnosis== | ||
The diagnosis of Camisa disease is typically based on the clinical presentation and family history. [[Genetic testing]] can confirm the diagnosis by identifying mutations in the loricrin gene. [[Skin biopsy]] may also be performed to examine the characteristic histological features of the disease. | The diagnosis of Camisa disease is typically based on the clinical presentation and family history. [[Genetic testing]] can confirm the diagnosis by identifying mutations in the loricrin gene. [[Skin biopsy]] may also be performed to examine the characteristic histological features of the disease. | ||
==Management== | ==Management== | ||
There is no cure for Camisa disease, and treatment is primarily focused on managing the symptoms. [[Emollients]] and [[keratolytic agents]] can help to soften and remove the thickened skin. In some cases, [[retinoids]] may be prescribed to reduce scaling and improve skin appearance. Regular follow-up with a [[dermatologist]] is recommended to monitor the condition and adjust treatment as needed. | There is no cure for Camisa disease, and treatment is primarily focused on managing the symptoms. [[Emollients]] and [[keratolytic agents]] can help to soften and remove the thickened skin. In some cases, [[retinoids]] may be prescribed to reduce scaling and improve skin appearance. Regular follow-up with a [[dermatologist]] is recommended to monitor the condition and adjust treatment as needed. | ||
==Prognosis== | ==Prognosis== | ||
The prognosis for individuals with Camisa disease varies depending on the severity of the symptoms. While the condition can cause significant discomfort and cosmetic concerns, it is not typically life-threatening. With appropriate management, many individuals can lead relatively normal lives. | The prognosis for individuals with Camisa disease varies depending on the severity of the symptoms. While the condition can cause significant discomfort and cosmetic concerns, it is not typically life-threatening. With appropriate management, many individuals can lead relatively normal lives. | ||
==See also== | ==See also== | ||
* [[Ichthyosis]] | * [[Ichthyosis]] | ||
| Line 22: | Line 36: | ||
* [[Autosomal dominant]] | * [[Autosomal dominant]] | ||
* [[Loricrin]] | * [[Loricrin]] | ||
==References== | ==References== | ||
{{Reflist}} | {{Reflist}} | ||
==External links== | ==External links== | ||
{{Commons category|Camisa disease}} | {{Commons category|Camisa disease}} | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Dermatology]] | [[Category:Dermatology]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
[[Category:Autosomal dominant disorders]] | [[Category:Autosomal dominant disorders]] | ||
{{medicine-stub}} | {{medicine-stub}} | ||
Latest revision as of 21:05, 4 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
| Camisa disease | |
|---|---|
| |
| Synonyms | Vohwinkel syndrome with ichthyosis |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Hyperkeratosis, constriction bands, hearing loss |
| Complications | Digital autoamputation |
| Onset | Childhood |
| Duration | Lifelong |
| Types | N/A |
| Causes | Genetic mutation in the loricrin gene |
| Risks | Family history |
| Diagnosis | Clinical diagnosis, genetic testing |
| Differential diagnosis | Vohwinkel syndrome, Ichthyosis vulgaris |
| Prevention | N/A |
| Treatment | Emollients, keratolytics, retinoids |
| Medication | Acitretin, Isotretinoin |
| Prognosis | Variable, depends on severity |
| Frequency | Rare |
| Deaths | N/A |
Camisa disease is a rare genetic disorder that primarily affects the skin and nails. It is also known as Vohwinkel syndrome with ichthyosis. This condition is characterized by the presence of honeycomb-like hyperkeratosis on the palms and soles, along with ichthyosis or widespread scaling of the skin.
Presentation[edit]
Individuals with Camisa disease typically present with thickened skin on the palms and soles, which may have a honeycomb appearance. This condition is often accompanied by ichthyosis, which is characterized by dry, scaly skin. The severity of the skin symptoms can vary widely among affected individuals.
Genetics[edit]
Camisa disease is inherited in an autosomal dominant manner, meaning that a single copy of the altered gene in each cell is sufficient to cause the disorder. The specific gene associated with Camisa disease is loricrin, which plays a crucial role in the formation of the epidermal barrier.
Diagnosis[edit]
The diagnosis of Camisa disease is typically based on the clinical presentation and family history. Genetic testing can confirm the diagnosis by identifying mutations in the loricrin gene. Skin biopsy may also be performed to examine the characteristic histological features of the disease.
Management[edit]
There is no cure for Camisa disease, and treatment is primarily focused on managing the symptoms. Emollients and keratolytic agents can help to soften and remove the thickened skin. In some cases, retinoids may be prescribed to reduce scaling and improve skin appearance. Regular follow-up with a dermatologist is recommended to monitor the condition and adjust treatment as needed.
Prognosis[edit]
The prognosis for individuals with Camisa disease varies depending on the severity of the symptoms. While the condition can cause significant discomfort and cosmetic concerns, it is not typically life-threatening. With appropriate management, many individuals can lead relatively normal lives.
See also[edit]
References[edit]
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External links[edit]
