Cheryl Bayart MD, MPH

Assistant Professor of Dermatology Cincinnati Children's Hospital Medical Center

Award: $15,000

OBJECTIVE:

• To assess the prevalence of osteopenia, osteoporosis and related complications in patients with EDD
• To evaluate factors correlating with low bone density in this population, including EDD genotype (if known) and phenotype, family history vitamin D levels, diet, supplement use, smoking, alcohol use, activity levels

AIMS: 

• To determine whether patients with EDD are at an increased risk for problems related to bone health than the general population
• To identify factors associated with increased osteoporosis risk in EDD patients
• To guide future recommendations for screening and prevention of osteoporosis in individuals with EDD

METHODS:
This will be a prospective study. Patients with EDD will be identified through the Cincinnati Children’s Hospital Medical Center (CCHMC) electronic medical record and recruited through the FIRST community. They will complete survey questions regarding demographics, general health, EDD genotype (if known) and phenotype, treatment history treatment history (including use of systemic retinoids and corticosteroids), supplement use, family history, and pertinent social history. Study participants will be invited to CCHMC to undergo full body exam and photography to allow for ichthyosis severity scoring (ISS), dual X-ray absorptiometry (DEXA) scan and laboratory evaluation. 
 
RELEVANCE TO THE MISSION OF FIRST: 
FIRST seeks to improve the lives of patients with EDD. Anecdotally, I have observed a pathology fracture in one EDD patient in the FIRST community. Others have expressed to me concern for their own bone health and worry that they may not have been adequately counseled regarding their risk. This is something that the FIRST community is worried about, and I would like to help them find answers. 

Researchers interested in funding Through FIRST'S Research Grant Program