David Elpern MD, Dermatologist, The Skin Clinic,
Williamstown, MA, USA on December 3, 2008
This is a fascinating problem. It illustrates well the Shelley's
concept of "the orphan patient." There must be an
"expert" out there who has adopted this group of patients.
How to find her or him? If not, Drs. Zargari and Garouhi will
need to become the experts. Howard Baden used to have an interest
in keratinizing disorders -- He might comment. I will think
about this before I shoot from the hip. The child's father is
right -- now is the time to start prevention -- possibly protective
footwear from the earliest age may help to some degree.
Richard K. Scher, MD, FACP. Professor of Dermatology,
Head, Section for Diagnosis and Treatment of Nail Diseases,
University of North Carolina, Chapel Hill, NC. on December
Thank you very much for your inquiry regarding the difficult
condition of pachyonychia congenita. As you have already stated,
the available therapies are very limited in both numbers and
efficacy. My experience has been predominantly in regard to
the nails. I know of no treatment that is preventative or that
retards progression with age. Retinoids have been used or suggested,
as you point out, but I believe the results are inconsistent
and probably not indicated in children because of bone complications.
However, I do not have any personal experience with them.
For the nails, management is essentially palliative, that is,
keeping them short, burring down the plates to thin them out,
and topical urea to soften. Under more severe circumstances,
avulsion and debridement have been employed. Two people who
have a significant experience with the cutaneous and non-nail
manifestations are Paller and Leachman, both of whom are noted
in your references. They may have a few therapeutic suggestions
regarding the skin and/or progression. I hope my comments are
of some help to you. All the best of good wishes.
Khalid Al Hawsawi M.D., Consultant Dermatologist, King Abdul Aziz Hospital, Makkah, Saudi Arabia on December 4, 2008
Excellent case. I recommend chemical avulsion of the nails and potent keratolytics for the palmoplanter keratoderma.
Greg Sakamoto MD, Resident, Harvard Dermatology, Boston, MA, USA on December 8, 2008
Fascinating case. As already iterated, there are no specific treatments available for the genetic disorders. Milstone et. al put together a compilation of anecdotes based on surverys that were sent to families affected by pachyonychia congenita. Here is a summary of the salient points:
1. Application of various chemicals to hyperkeratotic areas has been used as monotherapy or as a preliminary step to facilitate mechanical removal. Empirical observations have shown that water, humectants such as urea or propylene glycol, and weak organic acids such as salicylic and a-hydroxy acids all serve to facilitate removal of the outer keratin layers.
2. Periodic soaks in dilute bleach to reduce microbial colonization
3. Patients found that systemic retinoids were effective in reducing hyperkeratosis, but it also increases tenderness and blistering.
4. Secondary infections of bullae, hyperkeratotic plaques with fissures, and the nail apparatus is a concern, so appropriate antibiotic/antifungal treatments should be instituted.
5. For thickened, hyperkeratotic nails, pastes of 20%–40% urea or 15%–20% salicylic acid, often applied overnight under occlusion, seem to be favorite methods to soften the nails.
6. Many report hyperhidrosis as a bothersome manifestation of their disease. There is a suggestion of hyperhidrosis leading to increased blister formation. Aluminum chloride or botox has been used to decrease the palmoplantar hyperhidrosis.
7. Itching is a common complaint. It is unknown whether topical corticosteroids or oral antihistamines alleviate itch, but may be worth a try.
8. Patients often complaint of angular cheilitis or fissures, which can be combatted with heavy emollients.
9. For cysts/steatocytomas associated with the disease, excision, incision, hyfrecation or diathermy are all tx options.
Secondary infection of blister fluid, hyperkeratotic masses, or the nail unit is an ever present danger. Culture and treatment with appropriate anti-mycotic or anti-bacterial agents is a periodic feature of the treatment regimen for many patients.