Hypohidrotic Ectodermal DysplasiaSymptoms, Doctors, Treatments, Advances & More
Learn About Hypohidrotic Ectodermal Dysplasia
Hypohidrotic ectodermal dysplasia is one of more than 100 types of ectodermal dysplasia. Starting before birth, these disorders result in the abnormal development of ectodermal tissues, particularly the skin, hair, nails, teeth, and sweat glands.
Hypohidrotic ectodermal dysplasia is a genetic condition that can result from mutations in one of several genes. These include EDA, EDAR, EDARADD, and WNT10A. EDA gene mutations are the most common cause of the disorder, accounting for more than half of all cases. EDAR, EDARADD, and WNT10A gene mutations each account for a smaller percentage of cases. In about 10 percent of people with hypohidrotic ectodermal dysplasia, the genetic cause is unknown.
Hypohidrotic ectodermal dysplasia is the most common form of ectodermal dysplasia. It is estimated to occur in 1 in 20,000 newborns worldwide.
Hypohidrotic ectodermal dysplasia has several different inheritance patterns. Most cases are inherited in an X-linked pattern and are caused by mutations in the EDA gene. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females, who have two copies of the X chromosome, one altered copy of the gene in each cell often leads to less severe features of the condition. Signs and symptoms can include a few missing or abnormal teeth, sparse hair, and mild problems with sweat gland function. However, some females with one copy of the mutated gene have more severe features of this disorder.
Holm Schneider practices practicing medicine in Erlangen, Germany. Schneider is rated as an Elite expert by MediFind in the treatment of Hypohidrotic Ectodermal Dysplasia. They are also highly rated in 13 other conditions, according to our data. Their clinical expertise encompasses Hypohidrotic Ectodermal Dysplasia, Aplasia Cutis Congenita, Clouston Syndrome, and Ectodermal Dysplasias.
Michele Callea practices practicing medicine in Florence, Italy. Callea is rated as an Elite expert by MediFind in the treatment of Hypohidrotic Ectodermal Dysplasia. They are also highly rated in 11 other conditions, according to our data. Their clinical expertise encompasses Hypohidrotic Ectodermal Dysplasia, Aplasia Cutis Congenita, Clouston Syndrome, and Ectodermal Dysplasias.
C.S. Mott Children's Hospital
Dr. Jennifer Mancuso a board-certified dermatologist, and fellowship-trained pediatric dermatologist who provides medical dermatology diagnosis and treatment to patients of all ages. Dr. Mancuso sees patients in our medical dermatology outpatient clinics, including our pediatric dermatology clinic at C.S. Mott Children’s Hospital. In addition, Dr. Mancuso provides dermatology consultation within the Michigan Medicine hospitals and emergency department.Dr. Mancuso is a clinical assistant professor in the departments of dermatology and pediatrics. She received her medical degree from Wayne State University School of Medicine in Detroit, Michigan. Following graduation, Dr. Mancuso completed her transitional year internship and her dermatology residency at Henry Ford Hospital, where she served as Chief Resident in her final year. Dr. Mancuso joined the University of Michigan Department of Dermatology faculty in 2018 and subsequently completed a fellowship in pediatric dermatology at Rady Children’s Hospital in San Diego, California in 2020. Dr. Mancuso is rated as an Advanced provider by MediFind in the treatment of Hypohidrotic Ectodermal Dysplasia. She is also highly rated in 75 other conditions, according to our data. Her clinical expertise encompasses DRESS Syndrome, Hidradenitis Suppurativa, Keratosis Pilaris, and Stork Bite.
Summary: This is an open-label, prospective, genotype-match controlled for primary estimand, non randomized, multicenter, international Phase 2 clinical trial designed to investigate the efficacy and safety of ER004 administered intraamniotically as a treatment for unborn XLHED male subjects.
Published Date: November 01, 2018
Published By: National Institutes of Health