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