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Huriez Syndrome

Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist
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Rx Autoimmune, Genetic and Rare Diseases (A - Z)

Huriez syndrome is a rare inherited skin disorder characterized by scaly skin on the hands and feet, increased risk of skin cancer, and nail abnormalities.

Causes:

Huriez syndrome is genetic, meaning it’s caused by changes (mutations) in DNA. While it can’t be traced to 20 distinct causes, the primary cause is:

  1. Mutations in a specific gene (though the exact gene responsible for Huriez syndrome was not well-defined).

Some of the potential triggers or related factors include:

  1. Inherited genetic mutations
  2. Inherited from an affected parent (autosomal dominant inheritance).
  3. Spontaneous genetic mutations.
  4. Advanced parental age.
  5. Exposure to certain chemicals during pregnancy.
  6. Radiation exposure.
  7. Certain viral infections during pregnancy.
  8. Nutritional deficiencies during pregnancy.
  9. Exposure to certain drugs during pregnancy.
  10. Chromosomal abnormalities.
  11. Genetic syndromes.
  12. Errors during cell division.
  13. Genetic mutations from unknown causes.
  14. Environmental factors.
  15. Hormonal imbalances.
  16. Reproductive issues.
  17. Errors in DNA replication.
  18. Certain medications.
  19. Metabolic disorders.
  20. Oxidative stress.
  21. Inflammation.

Symptoms:

Symptoms of Huriez syndrome revolve around skin abnormalities. Here are the notable ones:

  1. Scaly skin (primarily on hands and feet)
  2. Tightness of the skin
  3. Reduced ability to sweat
  4. Nail abnormalities
  5. Increased risk of skin cancer
  6. Skin ulcers
  7. Skin atrophy (thinning)
  8. Pale or reddish skin patches
  9. Dry skin
  10. Itchy skin
  11. Fissures on palms and soles
  12. Absence of hair on the affected skin
  13. Thickened skin
  14. Reduced skin elasticity
  15. Skin coldness due to poor blood circulation
  16. Skin infections
  17. Distorted nails
  18. Absent or underdeveloped nails
  19. Nails that are loose or that shed
  20. Discoloration of nails.

Diagnostic Tests:

Diagnosing Huriez syndrome might involve:

  1. Clinical examination
  2. Dermatological consultation
  3. Skin biopsy
  4. Genetic testing
  5. Histopathological examination of the skin
  6. Dermatoscopy
  7. Nail examination
  8. Blood tests (to rule out other conditions)
  9. Assessment of family history
  10. Moisture and sweat tests
  11. Skin elasticity test
  12. Skin thickness measurement
  13. Microscopic examination of nail samples
  14. Testing for skin cancer
  15. Measurement of skin blood flow
  16. X-rays (for associated bone abnormalities)
  17. Examination under UV light
  18. Allergy tests (to rule out allergic conditions)
  19. Patch tests (to identify any irritants)
  20. Nailfold capillaroscopy.

Treatments:

Treatment is usually symptomatic, meaning it addresses specific symptoms:

  1. Topical moisturizers
  2. Topical steroids (for inflammation)
  3. Keratolytic agents (to remove scales)
  4. Surgical excision of skin tumors
  5. Topical retinoids
  6. Antibiotics (for infections)
  7. Cryotherapy (for precancerous lesions)
  8. Chemotherapy (for skin cancers)
  9. Radiation therapy (for skin cancers)
  10. Nail care and treatments
  11. Phototherapy
  12. Immunosuppressive drugs
  13. Skin grafts (for ulcers)
  14. Calcium channel blockers (for improved blood flow)
  15. Topical antifungals (if fungal infection is present)
  16. Vitamin D ointments
  17. Protective clothing and sunscreen (to prevent sunburn)
  18. Avoiding irritants and allergens
  19. Skin cancer screenings
  20. Lifestyle adjustments (like avoiding sun exposure)
  21. Genetic counseling
  22. Counseling and therapy (for emotional and psychological support)
  23. Pain relief medications
  24. Laser treatments (for certain skin abnormalities)
  25. Biologic agents
  26. Immune modulating ointments
  27. Regular dermatological check-ups
  28. Hyaluronic acid injections
  29. Artificial nails (for cosmetic purposes)
  30. Antipruritic treatments

 

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.

  1. https://medlineplus.gov/skinconditions.html
  2. https://www.aad.org/about/burden-of-skin-disease
  3. https://www.usa.gov/federal-agencies/national-institute-of-arthritis-musculoskeletal-and-skin-diseases
  4. https://www.cdc.gov/niosh/topics/skin/default.html
  5. https://www.skincancer.org/
  6. https://illnesshacker.com/
  7. https://endinglines.com/
  8. https://www.jaad.org/
  9. https://www.psoriasis.org/about-psoriasis/
  10. https://books.google.com/books?
  11. https://www.niams.nih.gov/health-topics/skin-diseases
  12. https://cms.centerwatch.com/directories/1067-fda-approved-drugs/topic/292-skin-infections-disorders
  13. https://www.fda.gov/files/drugs/published/Acute-Bacterial-Skin-and-Skin-Structure-Infections—Developing-Drugs-for-Treatment.pdf
  14. https://dermnetnz.org/topics
  15. https://www.aaaai.org/conditions-treatments/allergies/skin-allergy
  16. https://www.sciencedirect.com/topics/medicine-and-dentistry/occupational-skin-disease
  17. https://aafa.org/allergies/allergy-symptoms/skin-allergies/
  18. https://www.nibib.nih.gov/
  19. https://rxharun.com/rxharun/rxharun/article-types/skin-care-beauty/skin-diseases-types-symptoms-treatment/
  20. https://www.nei.nih.gov/
  21. https://en.wikipedia.org/wiki/List_of_skin_conditions
  22. https://en.wikipedia.org/?title=List_of_skin_diseases&redirect=no
  23. https://en.wikipedia.org/wiki/Skin_condition
  24. https://oxfordtreatment.com/
  25. https://www.nidcd.nih.gov/health/
  26. https://consumer.ftc.gov/articles/w
  27. https://www.nccih.nih.gov/health
  28. https://catalog.ninds.nih.gov/
  29. https://www.aarda.org/diseaselist/
  30. https://www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Fact-Sheets
  31. https://www.nibib.nih.gov/
  32. https://www.nia.nih.gov/health/topics
  33. https://www.nichd.nih.gov/
  34. https://www.nimh.nih.gov/health/topics
  35. https://www.nichd.nih.gov/
  36. https://www.niehs.nih.gov
  37. https://www.nimhd.nih.gov/
  38. https://www.nhlbi.nih.gov/health-topics
  39. https://obssr.od.nih.gov/
  40. https://www.nichd.nih.gov/health/topics
  41. https://rarediseases.info.nih.gov/diseases
  42. https://beta.rarediseases.info.nih.gov/diseases
  43. https://orwh.od.nih.gov/

References

 

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