Date: 04/08/2022

Dr. Keith Choate called the meeting to order and introductions of those present and those Zooming in were made.  Chris Boynton, CEO of FIRST, gave an update of organizational activities including National Conference in Providence, RI and the new TeleIchthyosis platform for dermatologists and primary care physicians who may not be familiar with ichthyosis.  They can make inquiries about diagnosis or care through the platform and get advice from the experts on the MSAB. 

Gabi Richard, MD, Chair of the Research Committee, gave a status report of this year’s research pipeline.  Six letters of interest were submitted to the committee with five being sent back to the investigators for the full application.  The committee was pleased with the diversity of applications this year.  The committee will review the full proposals in June and make recommendations for funding.

Dr. Choate provided an update on the Yale Registry.  There are 1,598 kindreds in the registry with 1,325 genetic diagnoses.  All samples are pre-screened for one of 42 gene mutations.  This identifies 85% of the samples.  The remaining 15% are considered in discovery and entered into exome sequencing.  The registry is available to assist with research projects from other academic institutions and private industry.

Dr. Choate also reminded members of the role of MSAB members. 1) Ongoing literature reviews for membership on quarterly basis; thanks to those who have helped thus far 2) Advise and engage with FIRST Board and research committee and 3) Providing help/advice/collaboration with members and families regarding general or specific care issues through the conference and Teleichthyosis.

Caroline Echeandia-Francis, a medical student from Yale, spoke about a study she is working on with Dr. Choate concerning the effect of ichthyosis on growth and development. Beginning to fill the literature gap regarding growth delay and children with ichthyosis is the primary aim of this study. Currently, physicians and families have no data on how a child’s ichthyosis may be associated with lower expected height, weight, head circumference, and growth velocity, thus making expectant management and possible appropriate intervention challenging.  To find more information, please visit or email

The last piece of business was to announce that Dr. Sarah Asch will be taking over the Chair role of the MSAB from Dr. Moise Levy starting immediately.

Cases were presented by Mary Spraker, Joyce Teng and the Levy group.  During this portion of the meeting, MSAB members present interesting cases that others may not have seen before or cases for which they are seeking additional perspectives.

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