Introduction
Acral peeling syndrome, often called "acral peeling skin syndrome" (APSS) or "acral peeling dermatitis," is a rare genetic condition that causes the skin on the palms and soles to peel off without any discomfort. An uncommon autosomal recessive condition called peeling skin syndrome (PSS) is characterized by spontaneous stratum corneum separation. Apart from skin shedding, affected individuals are usually well. PSS has been classified into two types: noninflammatory type A and inflammatory type B. The molecular cause of some cases of PSS was discovered in 2005 with gene mutation. The causes, signs, and remedies of acral peeling skin syndrome will be covered in this article.
What Is Acral Peeling Skin Syndrome?
Peeling skin syndrome is a rare, autosomal, recessive condition with lifelong painless, spontaneous skin peeling, often with pruritus (skin disease). Its onset is at birth and is usually generalized but with sparing of the palms and soles.
What Are the Causes of Acral Peeling Skin Syndrome?
Uncertainty exists over the condition's specific cause. Research suggests that it is primarily a result of genetic mutations. The syndrome is normally inherited in an autosomal recessive fashion, which means that for the syndrome to appear, both parents must contain a defective gene and pass it on to their kid. The specific genes involved in APSS have been identified as TGM5 (transglutaminase 5) and CDSN (corneodesmosin). Mutations in the TGM5 gene, which provides instructions for producing an enzyme called transglutaminase 5, have been associated with APSS. Transglutaminase 5 plays a role in forming and maintaining the skin's outer layer. It helps to cross-link proteins in the uppermost layer of the skin, contributing to its strength and integrity. Mutations in the CDSN gene, which provides instructions for producing a corneodesmosin protein, have also been linked to APSS.The outermost layer of the epidermis contains corneodesmosin, which aids in the attachment of skin cells.. These genetic mutations lead to abnormalities in the skin's outermost layer, causing it to become fragile and prone to peeling. The specific mechanisms by which these mutations result in the development of APSS are still under investigation.
What Are the Symptoms of Acral Peeling Skin Syndrome?
Acral peeling syndrome is characterized by specific symptoms primarily affecting the palms of the hands and the soles of the feet.
Here are some common symptoms associated with APSS:
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Painless Peeling: The hallmark symptom of APSS is painless peeling of the skin on the palms and soles. The peeling usually starts in infancy or early childhood and tends to recur throughout the affected individual's life. The shedding of the skin typically occurs in large, thin sheets.
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Palmoplantar Erythema: Along with the peeling, individuals with APSS may experience redness (erythema) of the palms and soles. This erythema is often transient and can vary in intensity.
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Intact Skin Between Episodes: In between episodes of peeling, the affected areas may appear normal, with intact skin. The skin may feel smooth and may not exhibit any other visible abnormalities.
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Absence of Other Symptoms: Unlike other skin disorders, APSS is primarily limited to peeling the palms and soles. It does not usually involve the skin of the face, trunk, or other body parts. Additionally, individuals with APSS generally do not experience itching, pain, or other discomfort associated with the condition.
How to Diagnose Acral Peeling Skin Syndrome?
The diagnosis of acral peeling syndrome (APSS) typically involves a combination of clinical evaluation, medical history assessment, and potentially genetic testing.
The following are the steps involved in diagnosing APSS:
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Medical History and Physical Examination: A healthcare professional, often a dermatologist, will begin by taking a detailed medical history, including information about symptoms, their onset, and any family history of similar conditions. They will perform a thorough physical examination, focusing on the affected areas, such as the palms and soles.
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Differential Diagnosis: The healthcare professional will consider other possible causes of skin peeling, such as contact dermatitis (inflammation of the skin caused by contact with substances resulting in rashes, dry skin, and itching), fungal infections, or other genetic skin disorders. They may also consider other conditions that may cause palmoplantar erythema or skin abnormalities.
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Skin Biopsy: In some cases, a small skin sample may be taken for a biopsy to examine it under a microscope. This can help rule out other skin conditions and provide additional evidence for the diagnosis of APSS. However, it is important to note that APSS is primarily diagnosed based on clinical features and genetic testing rather than relying solely on a skin biopsy.
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Genetic Testing: Genetic testing plays a crucial role in confirming the diagnosis of APSS. It involves analyzing the TGM5 and CDSN genes for mutations associated with the condition. A blood sample or a sample of buccal cells (obtained through a cheek swab) is typically used for genetic testing.
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Genetic Counseling: If a genetic mutation is identified, genetic counseling may be recommended to discuss the implications of the diagnosis, provide information about inheritance patterns, and offer guidance regarding family planning options.
What Are the Treatments of Acral Peeling Skin Syndrome?
Currently, there is no specific cure for acral peeling syndrome (APSS) since it is a genetic disorder. However, treatment focuses on managing the symptoms and reducing discomfort.
The following approaches may be used:
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Emollients and Moisturizers: Regular and frequent application of emollients and moisturizers can help keep the skin hydrated and reduce the frequency and severity of skin peeling. This can provide relief and improve the skin's appearance.
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Sun Protection: Protecting the affected areas from excessive sun exposure can be beneficial. Sunscreens with a high sun protection factor (SPF) should be used, and protective clothing or gloves may be worn to minimize sun damage to the skin.
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Gentle Skin Care: Using mild and gentle skin care products, avoiding harsh soaps or detergents, and taking short, lukewarm showers or baths can help prevent further irritation and damage to the skin.
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Avoidance Of Triggers: Identifying and avoiding potential triggers or irritants that worsen the peeling episodes can be helpful. These triggers can vary among individuals but may include exposure to certain chemicals, allergens, or excessive friction.
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Genetic Counseling: Genetic counselling can advise people and families about the risks of passing the condition on to future children because APSS is a genetic ailment inherited in an autosomal recessive manner.
Conclusion
Acral peeling skin is a genetic disorder that sheds skin. Research and medical advancements continue to shed light on potential future treatments for APSS. Genetic therapies, such as gene editing or replacement, may offer potential avenues for targeted treatment in the future. However, further research is necessary to develop and validate such approaches. The new approach to the treatment helps the patient to recover soon.
