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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]

Licholai G. Rare Dermatology: Orphan Disease Drug Development Opportunities and Challenges.  Dermatology Summit (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]