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Publications & Posters

Rare Genodermatoses

  • Doux J. Barriers and Opportunities A View Across the Developmental Divide. Journal of Investigative Dermatology (2015) 135, 2143–2144. [Download Now]
  • Chavez A, Licholai G, Murrell DF. Patients Left Behind: Rare dermatologic conditions miss the orphan drug development boom.  J Am Acad Dermatol (2019). [ Download Now]
   

Pachyonychia Congenita

  • Hickerson R, 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 Science (2010). [View Abstract]
  • Voice of the Patient: Report from the Pachyonychia Congenita Externally-Led Patient Focused Drug Development Meeting. April 6, 2018. [Download Now]
  • Shroot B., Evans H., Schwartz J. Gene Mutations Often Leave Individuals with Pachyonychia Congenita Unable to Walk Due to Severe Plantar Pain. Poster presentation at PeDRA, Oct 22, 2020. [Download Now]
   

Gorlin Syndrome

  • Kim AL, Back JH, Chaudhary SC, Zhu Y, Athar M, Bickers DR. SOX9 Transcriptionally Regulates mTOR-Induced Proliferation of Basal Cell Carcinomas. Journal of Investigative Dermatology (2018) 138,1716e1725. [Download Now]

Microcystic Lymphatic Malformations

  • Hammill AM, et al., Sirolimus for the treatment of complicated vascular anomalies in children. Pediatric Blood and Cancer (2011). [Link]
  • Adams DM, et al., Efficacy and Safety of Sirolimus in the Treatment of Complicated Vascular Anomalies. Pediatrics (2016) . [Link]
  • Canaud G, et al., A review of mechanisms of disease across PIK3CA-related disorders with vascular manifestations. Orphanet Journal of Rare Diseases (2021) [Link].
 

Clinical Research Innovation

  • Evans H, Schwartz J., Pellegrini C., Nauss J., Cook E. Patient-centric Approach Enables Individuals with Limited Mobility to Participate in Clinical Studies. . Poster presentation at PeDRA, Oct 22, 2020. [Download Now]