Hypohidrotic Ectodermal Dysplasia

Hypohidrotic Ectodermal Dysplasia- Vampire Syndrome

Anhidrotic Ectodermal Dysplasia

Christ-Siemens-Touraine Syndrome

CST syndrome

HED

Hydrohidrotic (too little sweating) Ectodermal (pertaining to outermost layer of 3 germ cell layers that make up the early embryo) Dysplasia (abnormal growth or development of)

Symptoms/Side effects:

[1] Hypohidrosis- abnormally diminished sweating.

[2] Hyperthermia- abnormally high fever.

[3] Hypotrichosis- A less than normal amount of hair on the head or body.

[4] Hypodontia- A usually congenital condition of having  fewer than the normal number of teeth.

[5] Ozena- A chronic disease of the nose characterized  by intranasal crusting, atrophy, and a fetid odor.

Source: http://dictionary.reference.com/

Mutated Genes Involved:

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55%-60%..EDA [inherited in a X-linked recessive* pattern]

-or-

15%-20%..EDAR [inherited in an autosomal dominant** or autosomal recessive*** pattern]

(Ectodysplasin A Receptor)

1%-2%......EDARADD [inherited in an autosomal recessive*** pattern]

(EDAR–Associated Death Domain)

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“...prevent normal interactions between the ectoderm and the mesoderm and impair the normal development of hair, sweat glands, and teeth. The improper formation of these ectodermal structures leads to the characteristic features of hypohidrotic ectodermal dysplasia..”

Source: http://ghr.nlm.nih.gov/condition/hypohidrotic-ectodermal-dysplasia

*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.

**Autosomal dominant inheritance means one copy of the altered gene in each cell is sufficient to cause the disorder.

***Autosomal recessive inheritance means two copies of the gene in each cell are altered. Most often, the parents of an individual with an autosomal recessive disorder are carriers of one copy of the altered gene but do not show signs and symptoms of the disorder.

Living with the Disorder

Dental check-ups are required every year or 6 months, and may lead to basic procedures or even dentures.

Avoid hot sunny days, or high temperatures. Water bottles, cooling vests or air conditioners are recommended for hot days.

Hair treatment or wigs may be used for aesthetic purposes.

Resources:

"Hypohidrotic Ectodermal Dysplasia." Genetics Home Reference. U.S. National Library of Medicine, 13 Apr. 2015. Web. 20 Apr. 2015.

"MedicineNet.com." MedicineNet Search. MedicineNet, 2014. Web. 20 Apr. 2015.

"Hypohidrotic Ectodermal Dysplasia." Disease InfoSearch. Ed. Leona M. Helmsly and Harry B. Helmsly. Health Resources and Services Administration, 2014. Web.

Division of Developmental Pediatrics, Department of Pediatrics, Saint Louis University, St. Louis, MO 63014, USA. "Psychoeducational Characteristics of Children with Hypohidrotic Ectodermal Dysplasia."National Center for Biotechnology Information. U.S. National Library of Medicine, 12 Mar. 2012. Web. 20 Apr. 2015.

The State Key Laboratory Breeding Base of Basic Science of Stomatology (Hubei-MOST), School and Hospital of Stomatology, Wuhan University, Wuhan, Hubei, China. "Methylation State of the EDA Gene Promoter in Chinese X-linked Hypohidrotic Ectodermal Dysplasia Carriers." National Center for Biotechnology Information. U.S. National Library of Medicine, 23 Apr. 2013. Web. 20 Apr. 2015.

Steckson, Christina B. "EDAR-induced Hypohidrotic Ectodermal Dysplasia: A Clinical Study on Signs and Symptoms in Individuals with a Heterozygous C.1072C  T Mutation." National Center for Biotechnology Information. U.S. National Library of Medicine, 16 May 2014. Web. 20 Apr. 2015.

Wright, J. Timothy, DDS, Dorothy K. Grange, MD, and Mary K. Ritcher. "GeneReviews®Summary Hypohidrotic Ectodermal Dysplasia."Hypohidrotic Ectodermal Dysplasia. U.S. National Library of Medicine, 15 May 2014. Web. 20 Apr. 2015.