Pachyonychia congentia is caused by the mutation in the genes KRT6A, KRT6B, KRT6C, KRT16, and KRT17. Nails and skin are primarily affected by this condition.

Medical Condition

• Abnormally shaped finger & toenails
• Development of blisters
• Calluses on the soles
• Follicular Keratosis
• Leukokeratosis

Genetic Changes

• Several gene mutations including KRT6A, KRT6B, KRT6C, KRT16 & KRT17 is responsible in the disease progression.
• The normal gene forms provide code for development of tough fibrous protein called keratins. These proteins provide strength and form to the skin, hair and nails.
• Alteration the keratin genes disrupt the keratin protein formation due to which the skin, hair and nails become fragile.

Treatment

No specific treatment as it is a genetic disorder with high morbidity.

• Bone Marrow transplantation
• Blood transfusion
• Enzyme replacement therapy
• Gene therapy

Solution

• Genetic screening can identify single gene disorders
• Early prognosis can prevent such diseases
• Remedial & personalized medicine can change the outcome
• Doctors can suggest alternatives for couples planning pregnancy

More information

At Aaranya Biosciences we use Next Generation Sequencing (NGS) to analyze single gene disorders. Our screening test with NGS has an accuracy of 99%.