Working Towards a Differential Diagnosis

Working Towards a Differential Diagnosis

There are many rare genetic skin disorders. Clinical diagnosis is often difficult because of similar or overlapping characteristics. For this reason PC Project provides free genetic testing through the PC patient registry (IPCRR).

Although some individuals with PC have been reported to have the following features, data collected on more than 900 patients with genetically confirmed PC, indicate these are not part of the PC syndrome.

  • Baldness (alopecia)—not caused by or connected with Pachyonychia Congenita
  • Deafness—not caused by or connected with Pachyonychia Congenita
  • Diabetes—not caused by or connected with Pachyonychia Congenita
  • Mental Retardation—not caused by or connected with Pachyonychia Congenita
  • Bone deformities—not caused by or connected with Pachyonychia Congenita
  • Cataracts and corneal lesions—not caused by or connected with Pachyonychia Congenita
  • Early menstrual cycle—not caused by or connected with Pachyonychia Congenita
  • Tooth loss – not caused by or connected with Pachyonychia Congenita

PC News and Events

Click here for PC Project News and Events webpage which includes announcements of upcoming events, important news information as well as links to all PC Patient NewsBrief issues and IPCC Newsletter issues.
 
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PC Patient Registry
Learn why this international registry of PC patients is so crucial to the worldwide efforts to find treatments and a cure for PC