Chondrodysplasia Calcificans Punctata (CCP)

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)

Chondrodysplasia Calcificans Punctata (CCP) is a group of rare disorders affecting the development of bones and cartilage, leading to abnormal calcium deposits in cartilage.

Types:

  1. Rhizomelic: Affects the proximal (near the body center) bones, especially arms and legs.
  2. Non-Rhizomelic: Affects bones not close to the body center.
  3. X-linked dominant: Caused by mutations on the X chromosome.
  4. X-linked recessive: Another X chromosome mutation type.
  5. Autosomal dominant: Not linked to sex chromosomes and can occur in any gender.
  6. Autosomal recessive: Another type not linked to sex chromosomes.

Causes:

  1. Genetic mutations
  2. Chromosome abnormalities
  3. Inherited gene changes
  4. Environmental factors
  5. Lack of certain enzymes
  6. Interruption in the cartilage to bone process
  7. PEX7 gene mutations
  8. AGPS gene mutations
  9. EBP gene mutations
  10. Intrauterine infections
  11. Maternal autoimmune disease
  12. Warfarin exposure during pregnancy
  13. Vitamin K deficiency
  14. Hypothyroidism during pregnancy
  15. Fetal alcohol syndrome
  16. Certain antiseizure drugs taken during pregnancy
  17. Metabolic disturbances
  18. Fetal exposure to toxins
  19. Early premature birth
  20. Unknown causes in some cases

Symptoms:

  1. Short stature
  2. Shortening of the bones in the arms and thighs
  3. Cataracts (cloudy lenses in the eyes)
  4. Sparse hair
  5. Skin abnormalities
  6. Intellectual disabilities
  7. Respiratory problems
  8. Skeletal abnormalities
  9. Small and hard growths of calcium (calcifications) in cartilage
  10. Facial feature differences
  11. Hearing loss
  12. Midface hypoplasia (underdevelopment)
  13. Flattened vertebral bodies
  14. Ichthyosis (scaly skin)
  15. Underdeveloped fingers or toes
  16. Curvature of the spine
  17. Epileptic seizures
  18. Heart defects
  19. Joint contractures
  20. Developmental delay

Diagnostic Tests:

  1. Prenatal ultrasound
  2. X-ray imaging
  3. Blood tests for enzyme activity
  4. Genetic testing
  5. Magnetic resonance imaging (MRI)
  6. Computerized tomography (CT) scan
  7. Skin biopsy
  8. Eye examination
  9. Hearing tests
  10. Bone density scan
  11. Detailed family history and physical examination
  12. Blood tests for chromosome analysis
  13. Amniocentesis (for prenatal diagnosis)
  14. Chorionic villus sampling (for prenatal diagnosis)
  15. Electroencephalogram (EEG) for seizures
  16. Echocardiogram (to check heart)
  17. Pulmonary function tests
  18. Metabolic screening tests
  19. Skin punch biopsy for ichthyosis
  20. Genetic counseling

Treatments:

  1. Physical therapy
  2. Occupational therapy
  3. Speech therapy
  4. Surgery for skeletal abnormalities
  5. Cataract removal
  6. Special education support
  7. Respiratory support
  8. Orthopedic devices
  9. Hearing aids
  10. Skin moisturizing and care
  11. Seizure medications
  12. Cardiovascular treatments
  13. Joint mobility exercises
  14. Calcium and vitamin D supplementation
  15. Genetic counseling
  16. Pain management
  17. Nutritional support
  18. Regular medical check-ups
  19. Counseling and psychological support
  20. Adaptive devices for daily living
  21. Support groups
  22. Corrective surgery for facial features
  23. Hydrotherapy
  24. Breathing exercises
  25. Vision aids and therapy
  26. Hormone therapy for growth
  27. Dietary modifications
  28. Skin protective measures
  29. Assistive communication devices
  30. Orthopedic footwear

Drugs:

  1. Analgesics for pain
  2. Antiseizure medications
  3. Respiratory medications
  4. Moisturizers for skin care
  5. Vitamins and supplements
  6. Growth hormone
  7. Anti-inflammatory drugs
  8. Drugs to improve bone density
  9. Topical steroids for skin issues
  10. Eye drops for cataracts
  11. Antibiotics for infections
  12. Cardiac medications
  13. Muscle relaxants
  14. Drugs for thyroid function
  15. Hearing aids or cochlear implants
  16. Medication for intellectual disabilities (if applicable)
  17. Antidepressants (if needed)
  18. Medications for heart defects
  19. Immunosuppressants (if autoimmune issue is a cause)
  20. Antispasmodic medications

CCP is a rare disorder that affects bone and cartilage development. It can have several causes, from genetic mutations to environmental factors. Symptoms can range from physical deformities to intellectual disabilities. Diagnostic tests help determine the specific type and guide treatment. There’s no single cure, but treatments and drugs aim to alleviate symptoms and improve the quality of life.

Remember, if you or someone you know suspects they might have CCP, it’s essential to consult with a medical professional for proper diagnosis and guidance.

 

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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  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?
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  15. https://www.aaaai.org/conditions-treatments/allergies/skin-allergy
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References

 

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