Hypohidrotic ectodermal dysplasia
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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.
Beschreibung
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.
Most people with hypohidrotic ectodermal dysplasia have a reduced ability to sweat (hypohidrosis) because they have fewer sweat glands than normal or their sweat glands do not function properly. Sweating is a major way that the body controls its temperature; as sweat evaporates from the skin, it cools the body. Reduced sweating can lead to a dangerously high body temperature (hyperthermia), particularly in hot weather. In some cases, hyperthermia can cause life-threatening health problems.
Affected individuals tend to have sparse scalp and body hair (hypotrichosis). The hair is often light-colored, brittle, and slow-growing. Hypohidrotic ectodermal dysplasia is also characterised by several missing teeth (hypodontia) or teeth that are malformed. The teeth that are present erupt from the gums later than usual and are frequently small and pointed.
Some people with hypohidrotic ectodermal dysplasia have distinctive facial features, including a prominent forehead, thick lips, and a flattened bridge of the nose. Additional features of this condition can include thin, wrinkled, and dark-colored skin around the eyes; chronic skin problems such as eczema; and a bad-smelling discharge from the nostrils (ozena).
Intellectual ability and growth are typically normal in people with hypohidrotic ectodermal dysplasia.
Inheritance patterns
The source lists the following possible inheritance patterns: Autosomal dominant; X-linked; Autosomal recessive. More than one pattern can apply in different cases.
Related genes
Other names
Anhidrotic ectodermal dysplasia
Christ-Siemens-Touraine syndrome
CST syndrome
HED
Related patient information and medicines
Patient information leaflet
Hüftprobleme
For example, a back problem can cause pain in the hip area and hip problems can be felt ... Causes of Hüfte problems in children Developmental dysplasia of Arztpraxis hip (DDH) A painless condition that can affect newborns, DDH makes the hip joint unstable so that it can dislocate (something that very rarely happens to the hip joint otherwise). It is.
Patient information leaflet
Luxation
Luxation of artificial hips in the period following Hüfte replacement surgery - this is relatively common as the muscles and ligaments around the new joint ball will be stretched and weakened by the surgery. Developmental dysplasia of the hip. It is more... For more information see the separate leaflet called Developmental Dysplasia of Arztpraxis Hip..
Patient information leaflet
Neugeborenen-Untersuchungen
This is done to ensure that your baby does not have an enlarged liver or spleen or have any abnormal swell... Checking your baby's skin for birthmarks and rashes, as well as colour and texture. Examination of your baby's hips. This is a test to exclude developmental dysplasia of the hip , which is problem with the way that the Hüfte joint develops..
Patient information leaflet
Frühgeborene
...the less your baby weighs and the less time they have been in Arztpraxis womb, the lower the chance of survival and the higher the risk of complicationsYour baby is considered to have: A low birth weight if they weigh less than 2500 g (5 lb) A very low birth weight if they weigh less than 1500 g (3 lb) An extremely low birth weight if they weigh less.
Patient information leaflet
Gelenkschmerzen
Was ist joint pain (arthralgia). Joint pain is discomfort that arises from any joint. The medical word for Gelenkschmerzen ist arthralgia. This... Conditions specifically affecting the hip joint in children may be harmless, such as irritable hip (transient synovitis) which usually resolves within a few weeks but may recur. See the separate leaflets.
Patient information leaflet
Eingeschränktes Wachstum
Dwarfism is a medical or genetic condition which causes people to have restricted growth so that they are shorter than average. Specifically, people with dwarfism grow no higher than 4 ft 10 ins (147 cm). It can be due to literally hundreds of different causes, so the term actually includes many different medical conditions. The cause and type of.
Weiterführende Lektüre und Referenzen
- Hypohidrotic ectodermal dysplasia; MedlinePlus, National Library of Medicine.
- Bohring A, Stamm T, Spaich C, Haase C, Spree K, Hehr U, Hoffmann M, Ledig S, Sel S, Wieacker P, Ropke A. WNT10A mutations are a frequent cause of a broad spectrum of ectodermal dysplasias with sex-biased manifestation pattern in heterozygotes. Am J Hum Genet. 2009 Jul;85(1):97-105. doi: 10.1016/j.ajhg.2009.06.001. Epub 2009 Jun 25.
- Cluzeau C, Hadj-Rabia S, Jambou M, Mansour S, Guigue P, Masmoudi S, Bal E, Chassaing N, Vincent MC, Viot G, Clauss F, Maniere MC, Toupenay S, Le Merrer M, Lyonnet S, Cormier-Daire V, Amiel J, Faivre L, de Prost Y, Munnich A, Bonnefont JP, Bodemer C, Smahi A. Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases. Hum Mutat. 2011 Jan;32(1):70-2. doi: 10.1002/humu.21384.
- Mikkola ML. Molecular aspects of hypohidrotic ectodermal dysplasia. Am J Med Genet A. 2009 Sep;149A(9):2031-6. doi: 10.1002/ajmg.a.32855.
- Nguyen-Nielsen M, Skovbo S, Svaneby D, Pedersen L, Fryzek J. The prevalence of X-linked hypohidrotic ectodermal dysplasia (XLHED) in Denmark, 1995-2010. Eur J Med Genet. 2013 May;56(5):236-42. doi: 10.1016/j.ejmg.2013.01.012. Epub 2013 Feb 14.
- Trzeciak WH, Koczorowski R. Molecular basis of hypohidrotic ectodermal dysplasia: an update. J Appl Genet. 2016 Feb;57(1):51-61. doi: 10.1007/s13353-015-0307-4. Epub 2015 Aug 21.
- van der Hout AH, Oudesluijs GG, Venema A, Verheij JB, Mol BG, Rump P, Brunner HG, Vos YJ, van Essen AJ. Mutation screening of the Ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia. Eur J Hum Genet. 2008 Jun;16(6):673-9. doi: 10.1038/sj.ejhg.5202012. Epub 2008 Jan 30.
- Wisniewski SA, Kobielak A, Trzeciak WH, Kobielak K. Recent advances in understanding of the molecular basis of anhidrotic ectodermal dysplasia: discovery of a ligand, ectodysplasin A and its two receptors. J Appl Genet. 2002;43(1):97-107.
- Wright JT, Grange DK, Fete M. Hypohidrotic Ectodermal Dysplasia. 2003 Apr 28 [updated 2025 Mar 20]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1112/
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18. Aug 2020 | Neueste Version
1 Nov 2018 | Ursprünglich veröffentlicht
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