Managing & Caring for Pachyonychia Congenita
Best practices as shared by the global PC community
Until there are approved and meaningful treatments that provide long-term benefits the community members learn from one another the best ways to minimize the painful and negative impacts of Pachyonychia Congenita (PC).
With more than 1700 patients in the patient registry, we have learned much about how to care for PC. This section outlines the best practices for caring for PC as learned from not only the dedicated medical professionals in our community, but some of the best experts of all – the patients.
PC CARE—THE BEST CURRENT TREATMENT
As the published “Best Practices” article shows, the most effective practice for PC care is frequent and consistent trimming of the nails and the calluses on the feet and sometimes on the palms. Known as “debridement,” this trimming must not leave the nails too short or too long, and the calluses not too thick and not too thin.
Most patients care for their PC condition at home. Obviously, trimming should be done with clean tools and clean nails and skin. Because trimming removes protective skin or nail and exposes the area to outside germs, these precautions are important both for comfort and to lessen the chance of infection. Whether done by the patient or by professionals, this regular trimming to the best length and thickness is basic to lessen pain and prevent infections which increase with either overgrown or over-trimmed areas.
When inflamed, cysts may need to be drained or removed by a physician. Again, opening cysts exposes the area to outside germs and care is needed to avoid infection.
As the hyperkeratosis, or thickened skin, may occur as a reaction to trauma (stress or pressure), some patients have found ways to lesson impact to feet and hands through special shoes, socks, gloves, insoles or orthotics, canes, crutches, wheelchairs, etc.
Caring for Your PC
The most consistent details of care reported by patients are found below. For product names and patient recommendations see Tips and Tools.
SOAK before trimming calluses or nails. Many patients use plain water, soapy water, or a bubble bath for children. Others add things such as salt, epsom salts, propylene glycol, or a small amount of bleach or another disinfectant. Vinegar may soften skin, but it does not eliminate germs. The most effective way to reduce infections is to use a “bleach bath” (one capful of household bleach to a gallon of water). Using a bleach bath can reduce infections in feet, hands, and nails.
TRIM nails and calluses by using clippers, razor blades, or a small grinder. To avoid infections, it is important not to trim too deeply and to be certain both the tools and the nails/skin are clean/sterile. Each patient has their own “just right” level for trimming. Trimming nails should never cause pain. Calluses that are either too thick or too thin both can cause increased pain.
MOISTURIZERS are used by almost all patients. As a rule: a gel will dry the skin, a lotion will moisturize somewhat, but a cream is more moisturizing. An ointment base (like petroleum jelly) is the most moisturizing and is used by the majority of PC patients.
A PHYSICIAN WHO CARES
At this time, most PC patients provide home care for their condition — involving frequent trimming of callus and nails, and sometimes draining of cysts. Alongside this, a relationship of trust with a physician who cares will make all the difference in the well-being of a PC patient.
First, PC patients must understand that the physician will not have a treatment or a cure that is unknown to others, and a physician who says there is no current treatment is correctly informed. While we hope this will change as treatments are developed, no physician currently has an effective treatment for PC.
Next, physicians treating those with PC do not necessarily need to be specialists, but need to have an understanding of the genetic nature of the disease through access to current scientific publications. The physician needs to recognize and respond to the urgent need for antibiotics or other intervention when an infection flares or cysts become inflamed. The intense and variable pain for PC patients should also be recognized.
Building a relationship of trust over time between a physician and a PC patient will result in benefits for both. PC Project is always glad to provide support services to local physicians in any way needed, including telephone consultation with PC specialists relating to care for PC, journal articles, and up-to-date information regarding on-going clinical studies.
OTHER TREATMENTS SOMETIMES RECOMMENDED
Keratolytic Therapy is a treatment used for conditions such as dermatitis, psoriasis, eczema, corns, and calluses to help loosen and shed hard, scaly skin. In this therapy, acid medicine — such as salicylic acid — is put on the lesion. Keratolytic medicines cause the outer layer of the skin to loosen and shed.
Keratolytics can also be used to soften keratin, a major component of the skin. This serves to improve the skin’s moisture-binding capacity. Such agents (keratolytics) include urea, lactic acid, and allantoin, and cause calluses and thick horny skin to swell, soften, and then peel or scale off. These have active ingredients such as salicylic acid or glycolic acid.
While keratolytic therapy has been helpful for some patients, PC generally produces more overgrowth of callus and nails than this type of therapy can control. While the treatment may help (especially for follicular hyperkeratosis bumps on knees, elbows, waist, and arms), no adult PC patient uses this as the means of reducing hyperkeratosis and most find little benefit in keratolytics. Most PC patients trim nails and calluses and use a basic moisturizer such as Vaseline as their standard care.
Salicylic acid — also known as 2-hydroxybenzoic acid, one of several beta hydroxy acids — is a key ingredient in many skin-care products for the treatment of acne, psoriasis, calluses, corns, keratosis pilaris, and warts (Adapted from Wikipedia at http://en.wikipedia.org/wiki/Salicylic_acid). Salicylic acid formulations come in gel, ointments, creams, and lotions. Those with over 5% salicylic acid are usually prescription only (and you must have a physician’s order), and those at 3% or so are over-the-counter and can be purchased without a doctor’s order. Most PC patients do not use or like salicylic acid.
Urea is an emollient (skin softening agent) which helps to moisturize the skin and is used in topical dermatological products to promote rehydration of the skin. If covered by an occlusive dressing, 40% urea preparations may be used as keratolytic agents (for debridement of nails and removal of calluses). Most PC patients do not use or like urea.
Surgical removal of nails (ablation) and destruction of the nail matrix (where the nail originates) is a more permanent option, although it may need to be repeated if the matrix is not completely destroyed or removed. See nail removal in Tips and Tools for more information.
The following drugs and treatments are listed alphabetically. Although most of these have been prescribed for or tried by PC patients, there is no report of successful long-term benefit from these treatments, and none of these treatments are recommended by a majority of PC patients or physicians specializing in PC.
Botulinum Toxin (Botox, Dysport) has been injected in the soles of feet of some PC patients to reduce pain. Learn more here.
Fluorouracil — an anti-neoplastic agent which inhibits cell growth and proliferation — has also been prescribed for PC. There is no clear evidence of benefit for PC patients.
Oral retinoids, which regulate the differentiation and proliferation of skin cells, have been prescribed for PC patients. Those frequently prescribed for PC include etretinate, isotretinoin, and acitretin. Based on statistics from the IPCRR, most patients find that these drugs thin the calluses but often cause increased pain. For many patients, the side effects are too severe and the benefits not sufficient to continue use of these drugs.
Only a very few patients have continued to use these drugs, and those who have had success seem to have worked very closely with a physician to constantly regulate the dose or to start/stop the drug under frequent physician care. No data has been collected on the effect these drugs may have on PC cysts, although certainly these drugs are used for acne. The side effects make long-term use problematic. Most PC patients do not use oral retinoids longer than a few months.
Phenytoin (US trade name is Dilantin) is an anti-epileptic agent that also prevents the breakdown of collagen and has been used for treatment of PC. Side effects can be severe. There is no clear evidence of benefit for PC patients.
Sometimes patients demand or expect a physician to provide a treatment even when no effective treatments are known. At times, a physician wanting to help a patient may want to try out a treatment. We encourage patients and physicians to take advantage of the resources of PC Project. This will avoid repeating treatments that have been shown to be ineffective.
For any new or unique treatment, the members of the International PC Consortium or Medical Advisory Board can assist the local physician in planning the treatment to ensure there is standardization of treatment and controlled reporting of outcomes.
Physicians and PC patients are invited to contact PC Project to explore whether a treatment has already been studied, whether there is an on-going study that may be applicable to the patient, or to gain the support of a distinguished panel of scientists and physicians to assist in planning a unique treatment for PC.
Please see the Clinical Trials page of this website for more information about new drug development for PC.
We believe any study should be reviewed by a group of experts familiar with PC — not by any single physician or scientist. All of the risks/benefits and all related prior studies should be evaluated before offering a treatment to a patient. We believe any treatment should have some verified scientific basis before patients are tested.