Pachyonychia Congenita Follow-up

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

Patient Education

Patients and their relatives should be informed that pachyonychia congenita does not endanger an individual's life, but it may impair his or her quality of life. The patient may be informed that at present, no effective treatment is available; however, gene therapy treatment may become available in the future. A genetic counselor should inform the carrier that this gene has an autosomal dominant inheritance pattern and that pachyonychia congenita can affect half of his or her progeny.

 
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].

 
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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.
 
 
 
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