Ectodermal dysplasias are a group of serious, rare genetic conditions that affect the skin, sweat glands, teeth, hair and nails. They are caused by a gene mutation which leads to a missing or non-functioning copy of the protein needed for these tissues to grow and work properly. While some supportive care is possible to help manage the burden of symptoms, there are no curative treatments available.
XLHED-affected mothers and patient advocates discuss experiences with XLHED symptoms and the importance of getting a genetic diagnosis.
Both men and women can pass XLHED to their future children. The cause of XLHED is a mutation on the X chromosome. This leads to a faulty protein called EDA, which is essential during a child’s fetal development for the normal formation of sweat glands, skin, teeth, nails and many other glands in the eyes and respiratory system.
X, Y = unaffected genes
If you have a father or other male relative with ED symptoms, XLHED could run in your family
If you have the XLHED mutation, 50% chance your children will too
Because of X-linked genetics, boys inheriting XLHED from their mother are most likely to be fully affected
Learning about the genetic cause of ED can help you better understand disease complications, learn about supportive treatment options, plan ahead for symptoms in your children and consider current research opportunities.
If you suspect a form of ED may run in your family, consider contacting the nearest patient advocacy group about genetic testing.
1. Schneider, H.; Schweikl, C.; Faschingbauer, F.; Hadj-Rabia, S.; Schneider, P. A Causal Treatment for X-Linked Hypohidrotic Ectodermal Dysplasia: Long-Term Results of Short-Term Perinatal Ectodysplasin A1 Replacement. Int. J. Mol. Sci. 2023, 24,7155 2. Körber, I, Klein, OD, Morhart, P, et al. Safety and immunogenicity of Fc-EDA, a recombinant ectodysplasin A1 replacement protein, in human subjects. Br J Clin Pharmacol. 2020; 86: 2063– 2069 3. Fete M, Hermann J, Behrens J, Huttner KM. 2014. X-linked hypohidrotic ectodermal dysplasia (XLHED): Clinical and diagnostic insights from an international patient registry. Am J Med Genet Part A 164A:2437–2442 4. Deshmukh S, Prashanth S. Ectodermal dysplasia: a genetic review. Int J Clin Pediatr Dent. 2012 Sep;5(3):197-202 5. Leo, B., Schneider, H. and Hammersen, J. (2022), Reproductive decision-making by women with X-linked hypohidrotic ectodermal dysplasia. J Eur Acad Dermatol Venereol, 36: 1863-1870. Additional information from data on file.