Pachyonychia Congenita Treatment & Management

  • Author: Saira J George, MD; Chief Editor: Dirk M Elston, MD   more...
 
Updated: Aug 9, 2010
 

Medical Care

Like most genodermatoses, no specific treatment or cure is known for pachyonychia congenita. Therapy is generally directed towards symptomatically improving the most bothersome manifestations of the disease and, because of the rarity of pachyonychia congenita, is based largely on anecdotal findings.

The palmoplantar keratoderma and its associated pain are thought to be one of the most debilitating aspects of the disease. Pressure, weight, and trauma are significant cofactors in the development of the keratoderma, and efforts to redistribute and minimize them are important. This can be achieved with specially constructed shoes, orthotic inserts, insoles, and protective socks and gloves. For patients with severe pain and fissuring, the use of an ambulatory aid such as crutches or a wheelchair may be helpful or even necessary for pain management and healing.[27]

Mechanical thinning of keratotic nails and calluses with a variety of tools such as pumice stones, emery boards, rasps, and files may be helpful. Some patients have reported the successful use of electrical tools, such as grinders, polishers, and sanders, to reduce thickened nails.[27]

Softening of the nails and calluses can also be achieved with water, humectants (eg, urea, propylene glycol), and weak organic acids (eg, salicylic acid, alpha-hydroxy acid).[27]

Treatment of hyperhidrosis, which is a bothersome and common feature of pachyonychia congenita, appears to be helpful in decreasing blistering and pain and has been achieved with agents such as aluminum chloride or plantar injections of botulinum toxin.[28, 29]

Pharmaceutical treatment of pachyonychia congenita includes systemic retinoids, such as isotretinoin[30] and etretinate.[9, 31] The retinoids may be successful in reducing the follicular keratoses and the palmoplantar keratoderma but often cause an increase in tenderness and blistering. Their use as long-term therapy is also limited by their adverse effects, such as teratogenicity, mucocutaneous adverse effects, liver toxicity, hyperlipidemia, and skeletal abnormalities.

One report describes beneficial treatment with rapamycin and suggests that it (or rapamycin analogues) may be a good future treatment option. The proposed mechanism of action was selective inhibition of expression of an inducible keratin (K6a) in human keratinocytes.[32]

An innovative and new approach to treating pachyonychia congenita was recently investigated in a phase 1B trial involving a short-interfering RNA (siRNA) that specifically targets the N171k mutant keratin 6a (K6a) mRNA. The study was a single-patient prospective, vehicle-controlled trial in which the hyperkeratotic plantar plaques of a patient with the N171k mutation were injected with solution containing the siRNA and demonstrated callus regression in comparison to plaques injected with the vehicle control.[33]

No effective methods are available for treatment of the oral leukokeratosis. Good dental hygiene is encouraged. Some patients report that brushing their tongue has beneficial effects on reducing the leukoplakia.[27]

Because of the discomfort associated with the keratoderma, pain management becomes an important intervention. In addition to measures such as reduction of weight bearing and treatment of hyperhidrosis, pain medications may be required. Nonnarcotic analgesics (especially nonsteroidal anti-inflammatory drugs) are often tried initially and may be sufficient, but occasionally narcotic analgesics are required for pain control. Topical anesthetics for painful blisters and fissures have also been reported to be helpful for some patients.[5, 27]

Next

Surgical Care

Surgical treatment of pachyonychia congenita is usually most helpful for the treatment of cysts, which are treated no differently than cysts occurring outside of pachyonychia congenita, with standard measures such as incision and drainage or excision.

Treatment of the pachyonychia with avulsion of the affected nails has not been shown to be effective because regrowth of the nails occurs, sometimes with worse dystrophy and distortion. Ablation of the nail matrix has been inconsistently effective. Improved function and appearance of the nails following matrix ablation has been reported in some patients but not in others.[5, 27, 34]

Excision and grafting of plantar skin has not shown promise in pachyonychia congenita, owing to the reappearance of the hyperkeratosis.[27, 35]

Previous
Next

Consultations

A geneticist may be consulted for genetic counseling.

Previous
Next

Activity

Activities that require the use of fine movements with hands or fingers may be difficult for pachyonychia congenita patients. Activities that result in excessive friction, prolonged weight bearing, or repetitive trauma should be avoided or limited.

Previous
Proceed to Medication
 
 
Contributor Information and Disclosures
Author

Saira J George, MD  Staff Dermatologist, Dermatological Association of Texas

Saira J George, MD is a member of the following medical societies: Alpha Omega Alpha and American Academy of Dermatology

Disclosure: Nothing to disclose.

Specialty Editor Board

Gregory J Raugi, MD, PhD  Professor, Department of Internal Medicine, Division of Dermatology, University of Washington at Seattle School of Medicine; Chief, Dermatology Section, Primary and Specialty Care Service, Veterans Administration Medical Center of Seattle

Gregory J Raugi, MD, PhD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

David F Butler, MD  Professor of Dermatology, Texas A&M University College of Medicine; Chair, Department of Dermatology, Director, Dermatology Residency Training Program, Scott and White Clinic, Northside Clinic

David F Butler, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Medical Association, American Society for Dermatologic Surgery, American Society for MOHS Surgery, Association of Military Dermatologists, and Phi Beta Kappa

Disclosure: Nothing to disclose.

Lester F Libow, MD  Dermatopathologist, South Texas Dermatopathology Laboratory

Lester F Libow, MD is a member of the following medical societies: American Academy of Dermatology, American Society of Dermatopathology, and Texas Medical Association

Disclosure: Nothing to disclose.

Glen H Crawford, MD  Assistant Clinical Professor, Department of Dermatology, University of Pennsylvania School of Medicine; Chief, Division of Dermatology, The Pennsylvania Hospital

Glen H Crawford, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Medical Association, Phi Beta Kappa, and Society of USAF Flight Surgeons

Disclosure: Nothing to disclose.

Chief Editor

Dirk M Elston, MD  Director, Ackerman Academy of Dermatopathology, New York

Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

Additional Contributors

The authors and editors of eMedicine gratefully acknowledge the contributions of previous Chief Editor, William D. James, MD, and previous author, Aleksej Kansky, MD, PhD, to the development and writing of this article.

References

  1. Muller C. On the causes of congenital onychogryphosis. Mcn Med Wochenschr. 1904;49:2180-2.

  2. Wilson AG. Three cases of hereditary hyperkeratosis of the nail bed. Br J Dermatol. 1905;17:13-14.

  3. Jadassohn J, Lewandowsky F. Pachyonychia congenita. Keratosis disseminata circumscripta (follicularis). Tylomata. Leukokeratosis linguae. In: Jacob's Ikonographia Dermatologica. 1. Berlin: Urban und Schwarzenberg; 1906:29-30.

  4. McKusick V. Mendelian Inheritance in Man. 11th ed. Baltimore: J Hopkins University Press; 1994.

  5. Leachman SA, Kaspar RL, Fleckman P, et al. Clinical and pathological features of pachyonychia congenita. J Investig Dermatol Symp Proc. Oct 2005;10(1):3-17. [Medline].

  6. Smith FJD, Kaspar RL, Schwartz ME, McLean WHI, Leachman SA. Pachyonychia Congenita. 1993;[Medline].

  7. Hannaford RS, Stapleton K. Pachyonychia congenita tarda. Australas J Dermatol. Aug 2000;41(3):175-7. [Medline].

  8. Paller AS, Moore JA, Scher R. Pachyonychia congenita tarda. A late-onset form of pachyonychia congenita. Arch Dermatol. May 1991;127(5):701-3. [Medline].

  9. Lucker GP, Steijlen PM. Pachyonychia congenita tarda. Clin Exp Dermatol. May 1995;20(3):226-9. [Medline].

  10. Iorizzo M, Vincenzi C, Smith FJ, Wilson NJ, Tosti A. Pachyonychia congenita type I presenting with subtle nail changes. Pediatr Dermatol. Jul-Aug 2009;26(4):492-3. [Medline].

  11. Liao H, Sayers JM, Wilson NJ, Irvine AD, Mellerio JE, Baselga E. A spectrum of mutations in keratins K6a, K16 and K17 causing pachyonychia congenita. J Dermatol Sci. Dec 2007;48(3):199-205. [Medline].

  12. Liao H, Sayers JM, Wilson NJ, et al. A spectrum of mutations in keratins K6a, K16 and K17 causing pachyonychia congenita. J Dermatol Sci. Dec 2007;48(3):199-205. [Medline].

  13. Wudy SA, Lenders H, Pirsig W, Mohr W, Teller WM. Diagnosis and management of laryngeal obstruction in childhood pachyonychia congenita. Int J Pediatr Otorhinolaryngol. Jan 1995;31(1):109-15. [Medline].

  14. Benjamin B, Parsons DS, Molloy HF. Pachyonychia congenita with laryngeal involvement. Int J Pediatr Otorhinolaryngol. Aug 1987;13(2):205-9. [Medline].

  15. Ceyhan AM, Yildirim M, Akkaya VB, Yasan H. Persistent hoarseness in a patient with pachyonychia congenita: an early sign of laryngeal involvement. Int J Dermatol. Dec 2009;48(12):1346-8. [Medline].

  16. Irvine AD, McLean WH. Human keratin diseases: the increasing spectrum of disease and subtlety of the phenotype-genotype correlation. Br J Dermatol. May 1999;140(5):815-28. [Medline].

  17. Clementi M, Cardin de Stefani E, Dei Rossi C, Avventi V, Tenconi R. Pachyonychia congenita Jackson-Lawler type: a distinct malformation syndrome. Br J Dermatol. Mar 1986;114(3):367-70. [Medline].

  18. Feinstein A, Friedman J, Schewach-Millet M. Pachyonychia congenita. J Am Acad Dermatol. Oct 1988;19(4):705-11. [Medline].

  19. Munro CS. Pachyonychia congenita: mutations and clinical presentations. Br J Dermatol. May 2001;144(5):929-30. [Medline].

  20. Moon SE, Lee YS, Youn JI. Eruptive vellus hair cyst and steatocystoma multiplex in a patient with pachyonychia congenita. J Am Acad Dermatol. Feb 1994;30(2 Pt 1):275-6. [Medline].

  21. Terrinoni A, Smith FJ, Didona B, et al. Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenita. J Invest Dermatol. Dec 2001;117(6):1391-6. [Medline].

  22. Smith FJ, Liao H, Cassidy AJ, et al. The genetic basis of pachyonychia congenita. J Investig Dermatol Symp Proc. Oct 2005;10(1):21-30. [Medline].

  23. Connors JB, Rahil AK, Smith FJ, McLean WH, Milstone LM. Delayed-onset pachyonychia congenita associated with a novel mutation in the central 2B domain of keratin 16. Br J Dermatol. May 2001;144(5):1058-62. [Medline].

  24. Xiao SX, Feng YG, Ren XR, et al. A novel mutation in the second half of the keratin 17 1A domain in a large pedigree with delayed-onset pachyonychia congenita type 2. J Invest Dermatol. Apr 2004;122(4):892-5. [Medline].

  25. Su WP, Chun SI, Hammond DE, Gordon H. Pachyonychia congenita: a clinical study of 12 cases and review of the literature. Pediatr Dermatol. Mar 1990;7(1):33-8. [Medline].

  26. Wollina U, Schaarschmidt H, Fünfstück V, Knopf B. Pachyonychia congenita. Immunohistologic findings. Zentralbl Pathol. 1991;137(4):372-5. [Medline].

  27. Milstone LM, Fleckman P, Leachman SA, et al. Treatment of pachyonychia congenita. J Investig Dermatol Symp Proc. Oct 2005;10(1):18-20. [Medline].

  28. Tidman MJ, Wells RS. Control of plantar blisters in pachyonychia congenita with topical aluminium chloride. Br J Dermatol. Mar 1988;118(3):451-2. [Medline].

  29. Swartling C, Vahlquist A. Treatment of pachyonychia congenita with plantar injections of botulinum toxin. Br J Dermatol. Apr 2006;154(4):763-5. [Medline].

  30. Thomas DR, Jorizzo JL, Brysk MM, Tschen JA, Miller J, Tschen EH. Pachyonychia congenita. Electron microscopic and epidermal glycoprotein assessment before and during isotretinoin treatment. Arch Dermatol. Nov 1984;120(11):1475-9. [Medline].

  31. Dupre A, Christol B, Bonafe JL, Touron P. [Pachyonychia congenita. Three familial cases. Effects of the treatment by aromatic retinoid (RO 10.9359) (author's transl)]. Ann Dermatol Venereol. 1981;108(2):145-9. [Medline].

  32. Hickerson RP, Leake D, Pho LN, Leachman SA, Kaspar RL. Rapamycin selectively inhibits expression of an inducible keratin (K6a) in human keratinocytes and improves symptoms in pachyonychia congenita patients. J Dermatol Sci. Nov 2009;56(2):82-8. [Medline].

  33. Leachman SA, Hickerson RP, Schwartz ME, Bullough EE, Hutcherson SL, Boucher KM. First-in-human mutation-targeted siRNA phase Ib trial of an inherited skin disorder. Mol Ther. Feb 2010;18(2):442-6. [Medline].

  34. Thomsen RJ, Zuehlke RL, Beckman BI. Pachyonychia congenita: surgical management of the nail changes. J Dermatol Surg Oncol. Jan 1982;8(1):24-8. [Medline].

  35. GARB J. Pachyonychia congenita; regression of plantar lesions on patients wearing specially made rubber base foot molds and shoes. Arch Derm Syphilol. Jul 1950;62(1):117-24. [Medline].

 
Previous
Next
 
The most prominent feature is a substantially thickened, brownish gray nail plate with a rough surface.
Leukokeratosis of the oral mucosa is a prominent sign. Patchy whitish areas may be seen on the back of the tongue; the buccal mucosa; and sometimes, the gingiva.
Hyperkeratotic lesions of the skin may involve acanthosis, hyperkeratosis, and parakeratosis.
 
 
 
All material on this website is protected by copyright, Copyright © 1994-2012 by WebMD LLC.
This website also contains material copyrighted by 3rd parties.

DISCLAIMER: The content of this Website is not influenced by sponsors. The site is designed primarily for use by qualified physicians and other medical professionals. The information contained herein should NOT be used as a substitute for the advice of an appropriately qualified and licensed physician or other health care provider. The information provided here is for educational and informational purposes only. In no way should it be considered as offering medical advice. Please check with a physician if you suspect you are ill.