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Dermatology Commons

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Full-Text Articles in Dermatology

A Case Of Simpson-Golabi-Behmel Syndrome Presenting With Cutaneous Findings, Tessa B. Mullins, Abigail Russell, Chad Johnston Jun 2020

A Case Of Simpson-Golabi-Behmel Syndrome Presenting With Cutaneous Findings, Tessa B. Mullins, Abigail Russell, Chad Johnston

Capital Division GME Virtual Research Day 2020

Simpson-Golabi-Behmelsyndrome is a rare, X-linked recessive syndrome associated with mutations in the genes encoding glypican 3 (GPC3). The majority of cases have been described in pediatric males, with those affected showing manifestations of overgrowth, congenital heart defects, and increased incidence of neoplasia. Due to the X-linked nature of this disorder, penetrance is not well understood in female cases. Very few cases of female presentations of Simpson-Golabi-Behmelsyndrome have been described. We present a case of GPC3 gene mutation suggestive of Simpson-Golabi-Behmelsyndrome in an adult female patient, diagnosed based on genetic testing performed due to a diagnosis of sebaceous carcinoma.


Segmental Neurofibromatosis: Isolated Eruption Of Neurofibromas On The Scapula In A Middle-Aged Man, Christopher White, Brett Brazen, Richard Miller May 2020

Segmental Neurofibromatosis: Isolated Eruption Of Neurofibromas On The Scapula In A Middle-Aged Man, Christopher White, Brett Brazen, Richard Miller

West Florida Division GME Research Day 2020

No abstract provided.


Rebound Growth Of Infantile Hemangiomas After Propranolol Therapy., Sonal D. Shah, Eulalia Baselga, Catherine Mccuaig, Elena Pope, Julien Coulie, Laurence M. Boon, Maria C. Garzon, Anita N. Haggstrom, Denise Adams, Beth A. Drolet, Brandon D. Newell, Julie Powell, Maria Teresa García-Romero, Carol Chute, Esther Roe, Dawn H. Siegel, Barbara Grimes, Ilona J. Frieden Apr 2016

Rebound Growth Of Infantile Hemangiomas After Propranolol Therapy., Sonal D. Shah, Eulalia Baselga, Catherine Mccuaig, Elena Pope, Julien Coulie, Laurence M. Boon, Maria C. Garzon, Anita N. Haggstrom, Denise Adams, Beth A. Drolet, Brandon D. Newell, Julie Powell, Maria Teresa García-Romero, Carol Chute, Esther Roe, Dawn H. Siegel, Barbara Grimes, Ilona J. Frieden

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND AND OBJECTIVES: Propranolol is first-line therapy for problematic infantile hemangiomas (IHs). Rebound growth after propranolol discontinuation is noted in 19% to 25% of patients. Predictive factors for rebound are not completely understood and may alter the management approach. The goal of the study was to describe a cohort of patients with IHs treated with propranolol and to identify predictors for rebound growth.

METHODS: A multicenter retrospective cohort study was conducted in patients with IHs treated with propranolol. Patient demographic characteristics, IH characteristics, and specifics of propranolol therapy were obtained. Episodes of rebound growth were recorded. Patients' responses to propranolol …