Management Guidelines
Evaluations Following Initial Diagnosis
To establish the extent of disease and needs in an individual diagnosed with pachyonychia congenita, the following evaluations are recommended:
Thorough clinical examination to assess each affected area. These will vary based on the specific gene involved and may need to be repeated once genetic testing is completed in order to fully understand the phenotype of the affected individual.
Consultation with a clinical geneticist and/or genetic counselor
Treatment of Manifestations
Preliminary treatment guidelines have been published and continue to be refined. The current treatment modalities primarily center on symptomatic relief of pain, hygienic grooming practices including paring of hyperkeratotic areas, treatment of secondary infection when indicated, and use of various walking aids including wheelchairs, crutches, and canes. Palmoplantar keratoderma. Frequent grooming of the feet is essential and includes paring down the hyperkeratotic areas. However, trimming too aggressively can greatly increase pain. Some find it helpful to soak the feet prior to the paring. The surface of the skin and the instruments used should be clean to avoid infection. Blisters should be punctured with a sterile needle, the fluid drained, and the blister roof left in place until it dries and is shed away. Topical therapies to remove the hyperkeratosis:
Source: GeneReviews — "Pachyonychia Congenita"
