Summary about Disease
Keratolytic Winter Erythema (KWE), also known as Oudtshoorn skin disease, is a rare autosomal dominant inherited skin condition primarily affecting individuals of Afrikaner descent. It is characterized by episodic peeling of the palms and soles, particularly during the winter months. The condition is generally benign but can cause discomfort and social embarrassment.
Symptoms
The primary symptoms of KWE include:
Episodic peeling of the skin, predominantly on the palms and soles.
Redness (erythema) of the affected skin before peeling.
Dryness and cracking of the skin.
Hyperhidrosis (excessive sweating) may be present.
Symptoms are typically worse in the winter months.
The peeling usually starts on the margins of the palms and soles and spreads centrally.
Itching and discomfort may or may not be present.
Causes
KWE is caused by a mutation in the SERPINB8 gene. This gene provides instructions for making a protein that is involved in regulating the breakdown of proteins in the skin. The mutation leads to abnormal keratinization (the process by which skin cells mature and harden) and increased shedding of the skin. The inheritance pattern is autosomal dominant, meaning that only one copy of the mutated gene is sufficient to cause the disease.
Medicine Used
There is no specific cure for KWE. Treatment focuses on managing the symptoms and providing symptomatic relief. Common treatments include:
Emollients and moisturizers: To hydrate and soften the skin, reducing dryness and cracking.
Keratolytics: Topical medications containing ingredients like urea or salicylic acid to help remove dead skin cells and reduce peeling.
Topical corticosteroids: Mild topical corticosteroids may be used to reduce inflammation and redness during acute episodes.
Antiperspirants: For individuals with hyperhidrosis.
Calcipotriol (topical vitamin D analog): Some case reports suggest potential benefit.
Is Communicable
No, KWE is not communicable. It is a genetic condition and cannot be spread from person to person.
Precautions
Avoid harsh soaps and detergents: Use gentle, fragrance-free cleansers.
Wear gloves when doing housework or working with irritants: This protects the hands from further irritation.
Moisturize frequently: Apply emollients multiple times a day, especially after washing hands or bathing.
Avoid excessive hand washing: Frequent washing can dry out the skin.
Protect hands from cold weather: Wear gloves in cold weather to prevent dryness and cracking.
Avoid picking or peeling the skin: This can increase the risk of infection and irritation.
Stay hydrated: Drink plenty of water to keep skin hydrated from within.
How long does an outbreak last?
The duration of an outbreak can vary from person to person. Episodes of peeling typically last for several weeks to a few months, and are more frequent and severe during the winter months. There may be periods of remission in between outbreaks.
How is it diagnosed?
Diagnosis of KWE is primarily based on:
Clinical examination: A dermatologist will examine the skin and assess the characteristic symptoms of peeling and redness on the palms and soles.
Family history: A positive family history of similar symptoms is a strong indicator.
Genetic testing: If available, genetic testing for mutations in the SERPINB8 gene can confirm the diagnosis.
Skin biopsy: In some cases, a skin biopsy may be performed to rule out other conditions and examine the histological features of the skin.
Timeline of Symptoms
Childhood/Early Adulthood: Symptoms often begin in childhood or early adulthood.
Initial Redness (Erythema): The skin on the palms and soles becomes red and inflamed.
Peeling: The skin starts to peel, typically beginning at the margins of the palms and soles and spreading centrally.
Progression: Peeling can progress to involve larger areas of the palms and soles.
Remission/Exacerbation: Symptoms often improve during warmer months and worsen during colder months (winter).
Chronic Condition: The condition is chronic, with recurrent episodes of peeling throughout life.
Important Considerations
Genetic Counseling: Individuals with KWE may benefit from genetic counseling to understand the inheritance pattern and the risk of passing the condition on to their children.
Differential Diagnosis: Other conditions that can cause peeling of the palms and soles, such as tinea manuum/pedis (fungal infection), contact dermatitis, psoriasis, and atopic dermatitis, should be ruled out.
Quality of Life: While KWE is generally benign, it can impact quality of life due to discomfort and social embarrassment. Management strategies should focus on relieving symptoms and improving the individual's well-being.
Research: As a rare condition, research into the pathogenesis and treatment of KWE is ongoing.