Selected Publications

There are over 700 articles available in the Published Research Articles section of the website. To assist in identifying articles that may interest patients or care providers, we have created this select list of publications.

Overview of PC and PC Project

• Pachyonychia Congenita: Clinical Features and Future Treatments. Keio J Med. 2023. McCarthy RL, De Brito M, O’Toole E.
• Revisiting Pachyonychia Congenita: A Case-Cohort Study of 815 Patients. Br J Dermatol. 2019;182(3).738-746. Samuelov L, Smith FJD, Hansen CD, Sprecher E
• A review of the clinical phenotype of 254 patients with genetically confirmed pachyonychia congenita. Journal of the American Academy of Dermatology. Oct 2012;67(4):680-686. Eliason MJ, Leachman SA, Feng BJ, Schwartz ME, Hansen CD.
• Pachyonychia Congenita Overview: The inherited nail dystrophy is associated with painful plantar keratoderma. The Dermatologist. 2014;22(4):36-38. Schwartz ME, Hansen CD, Paller A, Smith FJD, Sprecher E.
  
• Pachyonychia Congenita Project: Advancing Research and Drug Development through Collaboration. Keio J Med. 2023 Dec. Schwartz JN, Evans HA, O’Toole EA, Hansen CD.
• Patient Perspectives Column: The Pachyonychia Congenita Project
  J Dermatol Nurses Assoc. Sep/Oct 2023;15(5). Schwartz, JN; Brickley S.
• Pachyonychia Congenita Project: A Partnership of Patient and Medical Professional. J Dermatol Nurses Assoc. Jan/Feb 2013;5(1):42-47. Schwartz ME, Zimmerman GM, Smith FJD, Sprecher E.

Genetics

• Genotype‒Structurotype‒Phenotype Correlations in Patients with Pachyonychia Congenita. J Invest Dermatol. 2023;141(12):2876-2884. Wu TT, Eldirany SA, Bunick CG, Teng JMC.
• The molecular genetic analysis of the expanding pachyonychia congenita case collection. The British Journal of Dermatology. Aug 2014;171(2):343-355. Wilson NJ, O’Toole EA, Milstone LM, Hansen CD, Shepherd AA, Ali-Ashadi E, Schwartz ME, McLean WHI, Sprecher E, Smith JFD.
• The phenotypic and molecular genetic features of pachyonychia congenita. The Journal of Investigative Dermatology. May 2011;131(5):1015-1017. McLean WH, Hansen CD, Eliason MJ, Smith FJ.

Special Features

• Genotype-phenotype correlations of neurovascular structures on the feet in patients with pachyonychia congenita: A cross-sectional study. J Am Acad Dermatol. 2022;87(5):1172-1174.Tan XL, Thomas BR, Steele L, Schwartz J, Hansen CD, O’Toole EA.
• Prevalence and Characterization of Itch in Pachyonychia Congenita
  JAMA Dermatology. Nov 2021;157(11): 1378-1380. Steele L, Schwartz J, Hansen CD, O’Toole EA
  Volume: 157, Issue: 11, Pages: 
• Pachyonychia congenita in pediatric patients: natural history, features, and impact. JAMA Dermatology. Feb 2014;150(2):146-153.Shah S, Boen M, Kenner-Bell B, Schwartz M, Rademaker A, Paller AS.
• Can skin disease cause neuropathic pain? A study in pachyonychia congenita. Clinical and Experimental Dermatology. Sep 11 2015. Wallis T, Poole CD, Hoggart B.

Therapeutics

• Pachyonychia Congenita: A Research Agenda Leading to New Therapeutic Approaches. Journal of Investigative Dermatology. 2023. O’Toole EA, Kelsell DP, Caterina MJ, de Brito M, Hansen CD, Hickerson RP, Hovnanian A, Kaspar R, Lane EB, Paller AS, Schwartz J, Shroot B, Teng J, Titeux M, Coulombe PA, Sprecher E.
• EGFR Signaling is Overactive in Pachyonychia Congenita: Effective Treatment with Oral Erlotinib. Journal of Investigative Dermatology. 2022. Basset J, Marchal L, Hovnanian A.
• Treatment of Painful Palmoplantar Keratoderma Related to Pachyonychia Congenita Using EGFR Inhibitors. Biomedicines. 2022.10(4):841. Greco C, Ponsen AC, Leclerc-Mercier S, Schlatter J, Cisternino S, Boucheix C, Bodemer C.
• Best treatment practices for pachyonychia congenita.
  Journal of the European Academy of Dermatology and Venereology : JEADV. Mar 2014;28(3):279-285. Goldberg I, Fruchter D, Meilick A, Schwartz ME, Sprecher E.
• An appraisal of oral retinoids in the treatment of pachyonychia congenita. Journal of the American Academy of Dermatology. Jun 2012;66(6):e193-199. Gruber R, Edlinger M, Kaspar RL, Hansen CD, Leachman S, Milstone LM, Smith FJD, Sidoroff A, Fritsch PO, Schmuth M.