Keratolytic winter erythema: Difference between revisions
No edit summary |
CSV import |
||
| Line 1: | Line 1: | ||
{{SI}} | |||
{{Infobox medical condition | |||
| name = Keratolytic winter erythema | |||
| image = [[File:Autosomal_dominant_-_en.svg|200px]] | |||
| image_size = 200px | |||
| alt = | |||
| caption = This condition is inherited in an [[autosomal dominant]] pattern. | |||
| synonyms = Oudtshoorn skin disease, KWE | |||
| pronounce = | |||
| specialty = [[Dermatology]] | |||
| symptoms = Redness, peeling of the skin, especially in winter | |||
| onset = Childhood | |||
| duration = Chronic | |||
| causes = Genetic mutation | |||
| risks = Family history | |||
| diagnosis = Clinical evaluation, genetic testing | |||
| differential = [[Psoriasis]], [[Eczema]] | |||
| treatment = [[Emollients]], [[Keratolytics]] | |||
| medication = | |||
| frequency = Rare | |||
| deaths = | |||
}} | |||
'''Keratolytic winter erythema''' ('''KWE''') is a rare, autosomal dominant skin disorder characterized by recurrent episodes of palmoplantar erythema and epidermal peeling. KWE was first described in South Africa and is known to be prevalent among Afrikaners, but cases have been reported in patients of other ethnicities as well. | '''Keratolytic winter erythema''' ('''KWE''') is a rare, autosomal dominant skin disorder characterized by recurrent episodes of palmoplantar erythema and epidermal peeling. KWE was first described in South Africa and is known to be prevalent among Afrikaners, but cases have been reported in patients of other ethnicities as well. | ||
== Symptoms and Signs == | == Symptoms and Signs == | ||
The primary symptom of KWE is the cyclic occurrence of red, scaly patches on the palms of the hands and soles of the feet. These patches may also appear on the arms, legs, and trunk. The skin peeling and erythema typically worsen in the winter and improve in the summer, hence the name "winter erythema." | The primary symptom of KWE is the cyclic occurrence of red, scaly patches on the palms of the hands and soles of the feet. These patches may also appear on the arms, legs, and trunk. The skin peeling and erythema typically worsen in the winter and improve in the summer, hence the name "winter erythema." | ||
== Causes == | == Causes == | ||
KWE is caused by mutations in the [[OCTN2]] gene. This gene provides instructions for making a protein that is involved in the transport of certain substances across cell membranes. The mutations that cause KWE result in the production of an abnormal OCTN2 protein, which disrupts the normal function of cells, leading to the characteristic features of this disorder. | KWE is caused by mutations in the [[OCTN2]] gene. This gene provides instructions for making a protein that is involved in the transport of certain substances across cell membranes. The mutations that cause KWE result in the production of an abnormal OCTN2 protein, which disrupts the normal function of cells, leading to the characteristic features of this disorder. | ||
== Diagnosis == | == Diagnosis == | ||
Diagnosis of KWE is based on the clinical presentation of the skin symptoms, particularly the cyclic nature of the erythema and peeling. Genetic testing can confirm a diagnosis by identifying a mutation in the OCTN2 gene. | Diagnosis of KWE is based on the clinical presentation of the skin symptoms, particularly the cyclic nature of the erythema and peeling. Genetic testing can confirm a diagnosis by identifying a mutation in the OCTN2 gene. | ||
== Treatment == | == Treatment == | ||
There is currently no cure for KWE, and treatment is focused on managing the symptoms. Emollients and keratolytic agents can be used to soften and remove the scaly skin. In some cases, retinoids may be used to slow down the rate of skin cell growth. | There is currently no cure for KWE, and treatment is focused on managing the symptoms. Emollients and keratolytic agents can be used to soften and remove the scaly skin. In some cases, retinoids may be used to slow down the rate of skin cell growth. | ||
== See also == | == See also == | ||
* [[List of cutaneous conditions]] | * [[List of cutaneous conditions]] | ||
* [[Genodermatoses]] | * [[Genodermatoses]] | ||
== References == | == References == | ||
<references /> | <references /> | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Dermatological conditions]] | [[Category:Dermatological conditions]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
{{stub}} | {{stub}} | ||
Latest revision as of 21:29, 6 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
| Keratolytic winter erythema | |
|---|---|
| |
| Synonyms | Oudtshoorn skin disease, KWE |
| Pronounce | |
| Specialty | Dermatology |
| Symptoms | Redness, peeling of the skin, especially in winter |
| Complications | N/A |
| Onset | Childhood |
| Duration | Chronic |
| Types | N/A |
| Causes | Genetic mutation |
| Risks | Family history |
| Diagnosis | Clinical evaluation, genetic testing |
| Differential diagnosis | Psoriasis, Eczema |
| Prevention | N/A |
| Treatment | Emollients, Keratolytics |
| Medication | |
| Prognosis | N/A |
| Frequency | Rare |
| Deaths | |
Keratolytic winter erythema (KWE) is a rare, autosomal dominant skin disorder characterized by recurrent episodes of palmoplantar erythema and epidermal peeling. KWE was first described in South Africa and is known to be prevalent among Afrikaners, but cases have been reported in patients of other ethnicities as well.
Symptoms and Signs[edit]
The primary symptom of KWE is the cyclic occurrence of red, scaly patches on the palms of the hands and soles of the feet. These patches may also appear on the arms, legs, and trunk. The skin peeling and erythema typically worsen in the winter and improve in the summer, hence the name "winter erythema."
Causes[edit]
KWE is caused by mutations in the OCTN2 gene. This gene provides instructions for making a protein that is involved in the transport of certain substances across cell membranes. The mutations that cause KWE result in the production of an abnormal OCTN2 protein, which disrupts the normal function of cells, leading to the characteristic features of this disorder.
Diagnosis[edit]
Diagnosis of KWE is based on the clinical presentation of the skin symptoms, particularly the cyclic nature of the erythema and peeling. Genetic testing can confirm a diagnosis by identifying a mutation in the OCTN2 gene.
Treatment[edit]
There is currently no cure for KWE, and treatment is focused on managing the symptoms. Emollients and keratolytic agents can be used to soften and remove the scaly skin. In some cases, retinoids may be used to slow down the rate of skin cell growth.
See also[edit]
References[edit]
<references />
