Pachyonychia Congenita

What Is Pachyonychia Congenita? Pachyonychia congenita (PC) is a very rare genetic disorder affecting primarily the skin and nails. Its effects, which are evident at birth or early in life, include overgrowth of the nails and thick, painful calluses on ...1

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Symptoms of Pachyonychia Congenita

Pachyonychia congenita (PC) is a very rare genetic disorder affecting primarily the skin and nails. Its effects, which are evident at birth or early in life, include overgrowth of the nails and thick, painful calluses on the soles of the ...2

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Causes of Pachyonychia Congenita

What Causes PC? PC is caused by mutations in one of at least five genes involved in the production of keratins, which are tough, fibrous proteins that make up the skin, nails, and hair. These mutations alter the structure of ...3

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Causes List for Pachyonychia Congenita

Some possible causes of Pachyonychia Congenita or similar disorders may include:4

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Types of Pachyonychia Congenita

What Are the Different Forms of PC? PC types are classified based on the gene that is altered. Scientists have identified mutations in five responsible genes, KRT6A, KRT6B, KRT6C, KRT16, and KRT17. When mutations occur in the KRT6A gene, the ...5

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Diagnosis of Pachyonychia Congenita

How Is It Diagnosed? PC cannot be diagnosed by symptoms alone, because many of the symptoms are similar to those of other conditions. For example, thickened nails also can be caused by psoriasis, and white patches inside the mouth may ...6

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Genetics of Pachyonychia Congenita

Genetic Changes: Mutations in several genes, including KRT6A , KRT6B , KRT6C , KRT16 , and KRT17 , can cause pachyonychia congenita . All of these genes provide instructions for making tough, fibrous proteins called keratins . These proteins form networks that provide strength and resilience to ...7

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Treatments: Pachyonychia Congenita

How Is It Treated? At present, there is no cure or effective medical treatment for PC. Urea and salicylic acid preparations are often recommended to thin the calluses, but typically patients report them to be ineffective. Over-the-counter medications ...8

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Research for Pachyonychia Congenita

What Research Is Being Conducted on PC? Research on PC is focusing on "shutting down" the responsible gene and reducing the pain caused by PC. Potential therapies in development include: Topical rapamycin. A small trial showed that treatment with rapamycin ...9

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Names and Terminology

Other Names for This Condition

  • congenital pachyonychia
  • Jackson-Lawler syndrome (PC-2)
  • Jadassohn-Lewandowski syndrome (PC-1)
  • pachyonychia congenita syndrome

Source: GHR (NLM/NIH)10 ...

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References

  1. Source: NIAMS (NIH): niams.nih.gov/ Health_Info/ pachyonychia_congenita/ default.asp
  2. ibid.
  3. ibid.
  4. Source: Algorithmically Generated List
  5. Source: NIAMS (NIH): niams.nih.gov/ Health_Info/ pachyonychia_congenita/ default.asp
  6. ibid.
  7. Source: GHR (NLM/NIH): ghr.nlm.nih.gov/ condition/ pachyonychia-congenita
  8. Source: NIAMS (NIH): niams.nih.gov/ Health_Info/ pachyonychia_congenita/ default.asp
  9. ibid.
  10. Source: GHR (NLM/NIH): ghr.nlm.nih.gov/ condition/ pachyonychia-congenita

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