Acral Peeling Skin Syndrome

Acral Peeling Skin Syndrome (APSS) is a rare skin disorder characterized by the continuous shedding of the outer layer of the skin, specifically on the hands and feet (known as acral areas).

Types:

  1. Type 1 (APSS1): Caused by a mutation in the TGM5 gene.
  2. Type 2 (APSS2): Caused by a mutation in the CSTA gene.
  3. APSS Type 1: Also known as “Oni Acral Peeling Skin Syndrome,” this is the most common form of APSS. It’s caused by a mutation in the TGM5 gene.
  4. APSS Type 2: This type is less common and is associated with mutations in the CSTA gene.
  5. APSS Type 3: Type 3 APSS is very rare and is linked to mutations in the CTSK gene.

Causes of Acral Peeling Skin Syndrome

  1. Genetic Mutations: APSS is primarily caused by mutations in specific genes, including TGM5, CSTA, and CTSK.
  2. Inherited: APSS is usually inherited from parents who carry the mutated genes.
  3. Autosomal Recessive: In most cases, APSS follows an autosomal recessive pattern, meaning that an affected individual inherits two mutated genes, one from each parent.
  4. Mutation in Filaggrin Gene: In some instances, mutations in the Filaggrin gene can also contribute to the development of APSS.
  5. Spontaneous Mutations: While rare, spontaneous mutations in the associated genes can also lead to APSS in individuals with no family history of the condition.
  6. Consanguineous Marriages: Marriages between close relatives can increase the risk of APSS, especially in regions where consanguineous unions are common.
  7. Ethnicity: Some ethnic groups have a higher prevalence of APSS due to a higher carrier rate of the causative mutations.
  8. Environmental Factors: Although rare, exposure to certain environmental factors may exacerbate the condition in some cases.
  9. Unknown Factors: In a small number of cases, the exact cause of APSS remains unknown.

Symptoms of Acral Peeling Skin Syndrome

  1. Excessive Skin Peeling: The hallmark symptom of APSS is the constant and excessive peeling of the skin, primarily affecting the hands and feet.
  2. Painful Cracks: The peeling skin can lead to painful cracks and fissures, which may cause discomfort and difficulty in daily activities.
  3. Redness and Inflammation: Affected areas of skin may become red and inflamed, especially during peeling episodes.
  4. Hyperkeratosis: Some individuals with APSS may develop thickened, rough skin (hyperkeratosis) on the palms and soles.
  5. Itching: Itching can be a bothersome symptom, and scratching can exacerbate skin peeling.
  6. Nail Abnormalities: Nail changes, including thickening, ridges, and fragility, may occur in APSS.
  7. Bleeding: Severe skin peeling and cracking can lead to bleeding, increasing the risk of infection.
  8. Secondary Infections: Frequent skin peeling can make the skin more susceptible to secondary bacterial or fungal infections.
  9. Pain and Discomfort: Peeling, cracking, and inflammation can cause pain and discomfort, affecting the quality of life.
  10. Psychological Impact: Living with APSS can have a psychological impact due to its visible nature and potential discomfort.
  11. Difficulty Walking: In severe cases, peeling and discomfort in the feet can make walking difficult.
  12. Difficulty Grasping Objects: Hand involvement can impair one’s ability to grasp objects or perform fine motor tasks.
  13. Heat Sensitivity: Symptoms may worsen in hot and humid conditions.
  14. Sweating Abnormalities: Some individuals with APSS may experience abnormal sweating patterns on their palms and soles.
  15. Malodorous Feet: Due to sweating and difficulty maintaining hygiene, individuals with APSS may have malodorous feet.
  16. Sleep Disturbances: Discomfort and itching may lead to sleep disturbances.
  17. Social Isolation: The visible symptoms of APSS can lead to social isolation and a sense of self-consciousness.
  18. Reduced Quality of Life: APSS can significantly impact an individual’s quality of life due to the chronic nature of the condition.
  19. Growth and Developmental Delays: In rare cases, APSS can affect a child’s growth and development.
  20. Eczema-like Skin: Some individuals with APSS may develop eczema-like patches in addition to peeling.

Diagnostic Tests for Acral Peeling Skin Syndrome

  1. Genetic Testing: The primary diagnostic method for APSS is genetic testing to identify mutations in the TGM5, CSTA, or CTSK genes.
  2. Skin Biopsy: A skin biopsy may be performed to examine skin tissue under a microscope, which can reveal characteristic changes associated with APSS.
  3. Clinical Examination: A dermatologist can diagnose APSS by assessing the clinical symptoms and family history of the patient.
  4. Family History: Information about a family history of APSS is crucial for diagnosis.
  5. Exclusion of Other Conditions: Doctors may perform tests to rule out other skin disorders that can mimic APSS.
  6. Physical Examination: The dermatologist will conduct a thorough physical examination of the skin to look for characteristic signs of APSS.
  7. X-rays: In rare cases, X-rays may be ordered to assess bone abnormalities in severe forms of APSS.
  8. Blood Tests: Blood tests can help rule out other conditions that might affect the skin.
  9. Sweat Tests: In some cases, sweat tests can be done to assess sweating patterns.
  10. Skin Culture: If there are signs of infection, a culture of the skin may be taken to determine the causative organism.
  11. Histopathology: Skin samples may be analyzed under a microscope to study the histopathological changes in the skin.
  12. Prenatal Testing: In families with a known history of APSS, prenatal testing can be offered during pregnancy.
  13. Electron Microscopy: Electron microscopy can provide detailed information about the skin’s structure.
  14. Immunohistochemistry: Immunohistochemistry studies specific proteins in skin samples.
  15. Skin Scrapings: Scrapings from affected skin may be examined for fungal or bacterial infections.
  16. Allergy Testing: Allergy tests can help identify potential triggers for skin inflammation.
  17. X-linked Recessive Pattern Testing: In some cases, a diagnosis might involve testing for X-linked recessive patterns.
  18. Differential Diagnosis: Differentiating APSS from other skin conditions is essential.
  19. Consultation with Specialists: Patients may need consultations with geneticists and other specialists.
  20. Molecular Studies: Molecular studies can reveal specific genetic mutations responsible for APSS.

Treatments:

  1. Moisturizers: Keep skin hydrated.
  2. Topical Steroids: Reduce inflammation.
  3. Antibiotics: Treat infections.
  4. Antifungal Medications: For fungal infections.
  5. Cold Compress: Soothe irritated skin.
  6. Avoidance: Of triggering factors.
  7. Protective Wear: Gloves, socks to reduce friction.
  8. Ointments: Soothing balms for cracks.
  9. Aloe Vera: Natural relief for burns and peeling.
  10. Vitamin E: Promotes skin healing.
  11. Wet Dressings: For severe inflammation.
  12. Oatmeal Baths: Soothes itchiness.
  13. UV Therapy: Controlled UV exposure.
  14. Immunosuppressants: For autoimmune causes.
  15. Dermabrasion: To remove damaged skin.
  16. Laser Therapy: Treat scars or discoloration.
  17. Antihistamines: Reduce allergic reactions.
  18. Hydrocolloid Dressings: Protect and heal open wounds.
  19. Pain Relievers: Over-the-counter for pain.
  20. Anti-inflammatory Drugs: Reduce swelling.
  21. Salicylic Acid: Helps in skin shedding.
  22. Hyaluronic Acid: For hydration.
  23. Chemical Peels: Controlled removal of damaged skin.
  24. Botox: For excessive sweating aggravating APSS.
  25. Fillers: For deep scars.
  26. Cryotherapy: Freezing off damaged skin areas.
  27. Electrocautery: Burn off damaged skin.
  28. Light Therapy: For deep skin healing.
  29. Therapeutic Ultrasound: Promotes deep tissue healing.
  30. Physical Therapy: For joint issues related to APSS.

Drugs:

  1. Corticosteroids: Reduce inflammation.
  2. Clotrimazole: Treat fungal infections.
  3. Acetaminophen: Pain relief.
  4. Ibuprofen: Reduce pain and inflammation.
  5. Doxycycline: Antibiotic.
  6. Hydrocortisone Cream: For mild inflammation.
  7. Ciclosporin: Immunosuppressant.
  8. Diphenhydramine: Antihistamine.
  9. Terbinafine: Antifungal.
  10. Clobetasol: Strong steroid cream.
  11. Mupirocin: For bacterial skin infections.
  12. Ketoconazole: Antifungal.
  13. Retinoids: Skin cell turnover.
  14. Tacrolimus: Reduces itching & inflammation.
  15. Benzocaine: Topical pain reliever.
  16. Coal Tar: Reduces scaling, itching, and inflammation.
  17. Azathioprine: Immunosuppressant.
  18. Fluocinonide: Topical steroid.
  19. Pimecrolimus: Eczema treatment.
  20. Acyclovir: For viral infections.

In simple words, APSS makes the skin on hands and feet peel off. This is due to genetic mutations but other factors can make it worse. Symptoms like peeling, itching, and redness are common. Various tests can diagnose it, and there are numerous treatments and drugs available to manage the condition.

 

Disclaimer: Each person’s journey is unique, always seek the advice of a medical professional before trying any treatments to ensure to find the best plan for you. This guide is for general information and educational purposes only. If you or someone are suffering from this disease condition bookmark this page or share with someone who might find it useful! Boost your knowledge and stay ahead in your health journey. Thank you for giving your valuable time to read the article.

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References