A review of the clinical phenotype of 254 patients with genetically confirmed pachyonychia congenita

Journal of the American Academy of Dermatology

Volumn 67, Issue 4, 2012, Pages 680-686

  Eliason, Mark J ^a   Leachman, Sancy A ^a   Feng, Bing Jian ^a   Schwartz, Mary E ^b   Hansen, C David ^a  

^a UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^b Pachyonychia Congenita Project   (United States)

Author keywords

genodermatosis; hyperkeratosis; keratin; keratinizing disorder; keratoderma; pachyonychia congenita

Indexed keywords

CYTOKERATIN 16; CYTOKERATIN 17; CYTOKERATIN 6;

ADOLESCENT; ADULT; AGED; CHILD; CLINICAL FEATURE; CONGENITAL PACHYONYCHIA; CYST; DARIER DISEASE; FEMALE; FINGERNAIL DYSTROPHY; GENE MUTATION; HOARSENESS; HUMAN; HYPERHIDROSIS; KERATODERMA; LEUKOPLAKIA; MAJOR CLINICAL STUDY; MALE; NAIL DISEASE; PHENOTYPE; PLANTAR KERATODERMA; PLANTAR PAIN; PRESCHOOL CHILD; PRIORITY JOURNAL; QUALITY OF LIFE; REVIEW; SCHOOL CHILD; SYMPTOM; TOOTH MALFORMATION;

EID: 84865397810     PISSN: 01909622     EISSN: 10976787     Source Type: Journal    
DOI: 10.1016/j.jaad.2011.12.009     Document Type: Article

References (27)

1. F.J.D. Smith, R.L. Kaspar, M.E. Schwartz, W.H.I. McLean, and S.A. Leachman Pachyonychia congenita GeneReviews 2006 Available from: URL: http://www.genetests.org/profiles/pc Accessed October 15, 2010
2. S.A. Leachman, R.L. Kaspar, P. Fleckman, S.R. Florell, F.J. Smith, and W.H. McLean Clinical and pathological features of pachyonychia congenita J Investig Dermatol Symp Proc 10 2005 3 17
3. W.H. McLean, E.L. Rugg, D.P. Lunny, S.M. Morley, E.B. Lane, and O. Swensson Keratin 16 and keratin 17 mutations cause pachyonychia congenita Nat Genet 9 1995 273 278
4. P.E. Bowden, J.L. Haley, A. Kansky, J.A. Rothnagel, D.O. Jones, and R.J. Turner Mutation of a type II keratin gene (K6a) in pachyonychia congenita Nat Genet 10 1995 363 365
5. F.J. Smith, M.F. Jonkman, H. van Goor, C.M. Coleman, S.P. Covello, and J. Uitto A mutation in human keratin K6b produces a phenocopy of the K17 disorder pachyonychia congenita type 2 Hum Mol Genet 7 1998 1143 1148
6. R.L. Kaspar Challenges in developing therapies for rare diseases including pachyonychia congenita J Invest Dermatol Symp Proc 10 2005 62 66
7. C. Muller Zur Kasuistic der kongenitalen onchogryphosis [On the causes of congenital onychogryposis] Muenchener Medizinische Wochenschrift 49 1904 2180 2182
8. A.G. Wilson, and M.B. Cantar Three cases of hereditary hyperkeratosis of the nail-bed Br J Dermatol 17 1904 13 14
9. J. Jadassohn, and P. Lewandowski Pachyonychia congenita: keratosis disseminata circumscripts (follicularis). Tylomata. Leukokeratosis linguae A. Neisser, E. Jacobi, Ikonographia dermatologica 1906 Urban and Schwarzenberg Berlin 29 31
10. L. Kumer, and H.O. Loos Ueber pachyonychia congenita (typus Riehl) [On pachyonychia congenita (Riehl type)] Wien Klin Wochenschr 48 1935 174 178
11. E. Moldenhauer, and K. Ernst Das Jadassohn-Lewandowsky-syndrom [The Jadassohn-Lewandowsky syndrome] Hautarzt 19 1968 441 447
12. P.H. Schonfeld The pachyonychia congenita syndrome Acta Derm Venereol 60 1980 45 49
13. J. Franzot, A. Kansky, and S. Kavcic Pachyonychia congenita (Jadassohn-Lewandowsky syndrome): a review of 14 cases in Slovenia Dermatologica 162 1981 462 472
14. J.B. Stieglitz, and W.R. Centerwall Pachyonychia congenita (Jadassohn-Lewandowsky syndrome): a seventeen-member, four-generation pedigree with unusual respiratory and dental involvement Am J Med Genet 14 1983 21 28
15. A. Sivasundram, K. Rajagopalan, and T. Sarojini Pachyonychia congenita Int J Dermatol 24 1985 179 180
16. A. Feinstein, J. Friedman, and M. Schewach-Millet Pachyonychia congenita J Am Acad Dermatol 19 1988 705 711
17. W.P. Su, S.I. Chun, D.E. Hammond, and H. Gordon Pachyonychia congenita: a clinical study of 12 cases and review of the literature Pediatr Dermatol 7 1990 33 38
18. A.S. Paller, J.A. Moore, and R. Scher Pachyonychia congenita tarda: a late-onset form of pachyonychia congenita Arch Dermatol 127 1991 701 703
19. P.R. Dahl, M.S. Daoud, and W.P. Su Jadassohn-Lewandowski syndrome (pachyonychia congenita) Semin Dermatol 14 1995 129 134
20. C.S. Munro, S. Carter, S. Bryce, M. Hall, J.L. Rees, and L. Kunkeler A gene for pachyonychia congenita is closely linked to the keratin gene cluster on 17q12-q21 J Med Genet 31 1994 675 678
21. M.A. van Steensel, M.F. Jonkman, M. van Geel, P.M. Steijlen, W.H. McLean, and F.J. Smith Clouston syndrome can mimic pachyonychia congenita J Invest Dermatol 121 2003 1035 1038
22. C.S. Munro Pachyonychia congenita: mutations and clinical presentations Br J Dermatol 144 2001 929 930
23. N.J. Wilson, A.G. Messenger, S.A. Leachman, E.A. O'Toole, E.B. Lane, and W.H. McLean Keratin K6c mutations cause focal palmoplantar keratoderma J Invest Dermatol 130 2010 425 429
24. N.J. Wilson, S.A. Leachman, C.D. Hansen, A.C. McMullan, L.M. Milstone, and M.E. Schwartz A large mutational study in pachyonychia congenita J Invest Dermatol 131 2011 1018 1024
25. S.A. Leachman, R.P. Hickerson, P.R. Hull, F.J. Smith, L.M. Milstone, and E.B. Lane Therapeutic siRNAs for dominant genetic skin disorders including pachyonychia congenita J Dermatol Sci 51 2008 151 157
26. S.A. Leachman, R.P. Hickerson, M.E. Schwartz, E.E. Bullough, S.L. Hutcherson, and K.M. Boucher First-in-human mutation-targeted siRNA phase Ib trial of an inherited skin disorder Mol Ther 18 2010 442 446
27. R.P. Hickerson, F.J. Smith, R.E. Reeves, C.H. Contag, D. Leake, and S.A. Leachman Single-nucleotide-specific siRNA targeting in a dominant-negative skin model J Invest Dermatol 128 2008 594 605