|Signs and Symptoms||Approximate number of patients (when available)|
|Abnormality of the eyelid||90%|
|Depressed nasal ridge||90%|
|Recurrent respiratory infections||90%|
|Abnormality of the mouth||50%|
|Limitation of joint mobility||50%|
|Sudden cardiac death||7.5%|
|Autosomal recessive inheritance||-|
|Congenital ichthyosiform erythroderma||-|
|Everted lower lip vermilion||-|
The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
The 11th Annual North American Genetic Analysis of ABC Transporters Workshop
Wednesday, September 24, 2014 -
Thursday, September 25, 2014
Location: NCI-Frederick, Frederick, MD
Description: This workshop features presentations from graduate students, post-docs., and senior investigators studying the role of ATP Cassette Binding Proteins in human disease. Phylogenetic studies, model systems, and bioinformatic techniques that shed light in this rapidly developing research area are presented. Because student presentations predominate, unpublished results often are first disclosed at these workshops.
Contact: Dr. Michael Dean,(301) 846-5931,email@example.com
Co-funding Institute(s): National Cancer Institute, Office of Rare Diseases Research
Pediatric Dermatology Research Alliance (PeDRA) Annual Conference
Friday, October 18, 2013 -
Sunday, October 20, 2013
Location: Westin O’Hare Hotel , Rosemont, IL
Description: The goals of the PEDRA annual meetings are to provide an educational platform that will enhance the research skills of PeDRA investigators and establish a forum for the critical review of research proposals developed by PeDRA disease-focused groups and to create a bridge between basic scientists and clinicians to enhance opportunities for research. Each group will identify and prioritize the clinical needs and therapeutic opportunities.
Contact: Carl C. Baker(301) 435-1240
Co-funding Institute(s): National Institute of Arthritis and Musculoskeletal and Skin Diseases, Office of Rare Diseases Research
Can Harlequin ichthyosis be diagnosed before birth? Specifically, can it be diagnosed by amniocentesis or chorionic villus sampling (CVS)? See answer