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Hypohidrotic Ectodermal Dysplasia.

Source

GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2003 Apr 28 [updated 2017 Jun 1].

Author information

1
Distinguished Bawden Professor, Department of Pediatric Dentistry, University of North Carolina, Chapel Hill, North Carolina
2
Professor of Pediatrics, Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri
3
Executive Director, National Foundation for Ectodermal Dysplasias, Mascoutah, Illinois

Excerpt

CLINICAL CHARACTERISTICS:

Hypohidrotic ectodermal dysplasia (HED) is characterized by hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (congenital absence of teeth). The cardinal features of classic HED become obvious during childhood. The scalp hair is thin, lightly pigmented, and slow-growing. Sweating, although present, is greatly deficient, leading to episodes of hyperthermia until the affected individual or family acquires experience with environmental modifications to control temperature. Only a few abnormally formed teeth erupt, and at a later-than-average age. Physical growth and psychomotor development are otherwise within normal limits. Mild HED is characterized by mild manifestations of any or all the characteristic features.

DIAGNOSIS/TESTING:

Classic HED can be diagnosed after infancy on the basis of physical features in most affected individuals. Identification of a hemizygous EDA pathogenic variant in an affected male or biallelic EDAR, EDARADD, or WNT10A pathogenic variants in an affected male or female confirms the diagnosis. The diagnosis of mild HED is established in a female by identification of a heterozygous EDA, EDAR, EDARADD, or WNT10A pathogenic variant. The diagnosis of mild HED is established in a male by identification of a heterozygous EDAR, EDARADD, or WNT10A pathogenic variant.

MANAGEMENT:

Treatment of manifestations: Wigs or special hair care formulas for sparse, dry hair may be useful. Access to an adequate water supply and a cool environment during hot weather. Early dental treatment; bonding of conical shaped teeth; orthodontics as necessary; dental implants in the anterior portion of the mandibular arch in older children; replacement of dental prostheses as needed, often every 2.5 years; dental implants in adults; therapeutics to maintain oral lubrication and control caries; dietary counseling for individuals with chewing and swallowing difficulties. Nasal and aural concretions may be removed with suction devices or forceps as needed by an otolaryngologist. Prevention of nasal concretions through humidification of ambient air is helpful. Skin care products for eczema and exposures that exacerbate dry skin. Prevention of secondary complications: Saliva substitutes and optimal fluoride exposure may be helpful in preventing dental caries in those individuals having a marked reduction in salivary flow. Surveillance: Dental evaluation by age one year with follow-up dental evaluations every six to 12 months. Agents/circumstances to avoid: Exposure to extreme heat. Evaluation of relatives at risk: If the family-specific pathogenic variant(s) are known, molecular genetic testing of at-risk relatives should be offered to permit early diagnosis and treatment, especially to avoid hyperthermia.

GENETIC COUNSELING:

HED is inherited in an autosomal dominant, autosomal recessive, or X-linked manner. The majority of individuals with HED have the X-linked form. The mode of inheritance may be determined in some instances by family history and in others by molecular genetic testing. Carrier testing is possible for the X-linked and autosomal recessive forms if the pathogenic variant(s) in the family are known. Prenatal testing is possible for pregnancies at increased risk for all forms if the pathogenic variant(s) in the family are known.

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