The prevalence of X-linked hypohidrotic ectodermal dysplasia (XLHED) in Denmark, 1995–2010

Nguyen-Nielsen, Mary; Skovbo, Stine; Svaneby, Dea; Pedersen, Lars; Fryzek, Jon P.

doi:10.1016/j.ejmg.2013.01.012

Cited by 57 publications

(58 citation statements)

References 26 publications

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“…This phenotypic variability in heterozygous carriers is a characteristic of X‐linked diseases and well known in XLHED . According to the literature, females with XLHED are often diagnosed only because of affected siblings . In our cohort, however, all four females with XLHED were recognized prenatally, there was no false negative result.…”

Section: Discussionmentioning

confidence: 52%

Reliability of prenatal detection of X‐linked hypohidrotic ectodermal dysplasia by tooth germ sonography

et al. 2018

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Objective In X‐linked hypohidrotic ectodermal dysplasia (XLHED), dysfunction of ectodysplasin A1 (EDA1) due to EDA mutations results in malformation of hair, teeth, and sweat glands. Hypohidrosis, which can cause life‐threatening hyperthermia, is amenable to intrauterine therapy with recombinant EDA1. This study aimed at evaluating tooth germ sonography as a noninvasive means to identify affected fetuses in pregnant carrier women. Methods Sonography, performed at 10 study sites between gestational weeks 18 and 28, led to the diagnosis of XLHED if fewer than six tooth germs were detected in mandible or maxilla. The assessment was verified postnatally by EDA sequencing and/or clinical findings. Estimated fetal weights and postnatal weight gain of boys with XLHED were assessed using appropriate growth charts. Results In 19 of 38 sonographic examinations (23 male and 13 female fetuses), XLHED was detected prenatally. The prenatal diagnosis proved to be correct in 37 cases; one affected male fetus was missed. Specificity and positive predictive value were both 100%. Tooth counts obtained by clinical examination corresponded well with findings on panoramic radiographs. We observed no weight deficits of subjects with XLHED in utero but occasionally during infancy. Conclusion Tooth germ sonography is highly specific and reliable in detecting XLHED prenatally.

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Section: Discussionmentioning

confidence: 52%

Reliability of prenatal detection of X‐linked hypohidrotic ectodermal dysplasia by tooth germ sonography

et al. 2018

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“…XLHED adults had a median of 0 sweat ducts/cm2 of the palm with a range of 0–127.8 (vs. 308.35 ducts for control adults). Nguyen‐Nielsen et al () reported that of 36 males, 2 had no sweat ducts.…”

Section: Resultsmentioning

confidence: 99%

“…Schneider et al () noted that all five adult females had a reduced sweat duct count with a 241 average sweat pore count (range: 37–362) compared to the 418‐average count for controls. Nguyen‐Nielsen et al () reported that only 1 of 54 females had reduced sweat duct counts.…”

Section: Resultsmentioning

confidence: 99%

The characterization of hypodontia, hypohidrosis, and hypotrichosis associated with X‐linked hypohidrotic ectodermal dysplasia: A systematic review

Anbouba

Carmany

Natoli

2020

American J of Med Genetics Pt A

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The objective of this study was to review the published literature on X‐linked hypohidrotic ectodermal dysplasia (XLHED) for the prevalence and characteristics of three features of XLHED: hypodontia, hypohidrosis, and hypotrichosis. A systematic search of English‐language articles was conducted in May 2019 to identify publications with information on any of the three features of XLHED. We excluded studies with five or fewer participants, that did not specify X‐linked inheritance or an EDA mutation, and discussed only management of features. The weighted means for total missing teeth, location of missing teeth, prevalence of reduced and absent sweating ability, and sparse or absent hair were analyzed across all studies. Additional findings for hypodontia, hypohidrosis, and hypotrichosis were summarized qualitatively. Twenty publications (18 studies) were accepted. Reported findings for males tended to be more informative than for carrier females. The weighted mean for missing teeth for affected males was 22.4 (range: 10–28) and carrier females was 3.4 (range: 0–22). The most common conserved teeth for males were the canines. The most common missing teeth for females were the maxillary lateral incisors. The weighted mean prevalence of reduced or absent sweating ability was 95.7% for males and 71.6% for females. The weighted mean prevalence for hypotrichosis was 88.1% for males and 61.6% for females. This systematic review provides insight into the prevalence, characteristics, and variability of the three classic features of XLHED. These findings provide detailed natural history information for families with XLHED as well as key characteristics that can aid in diagnosis.

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“…Using CPR numbers, data were collected from the relevant clinical departments, the Statens Centrale Odontologiske Register (SCOR) database,40 the DNRP, and the Civil Registration System 41. A cohort of 1224 persons was assembled, and population-based prevalence estimates and frequency of clinical features were calculated 42. Patients with X-linked hypohidrotic ectodermal dysplasia (XLHED) (ie, gene tested and/or clinically diagnosed) were identified by inquiry at the relevant departments.…”

Section: Project-specific Data Sources (Table 3)mentioning

confidence: 99%

Existing data sources for clinical epidemiology: Danish registries for studies of medical genetic diseases

Nguyen-Nielsen¹,

Svensson²,

Vogel³

et al. 2013

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Denmark has an extensive collection of national and regional medical registries. There are many advantages to registry-based research when investigating genetic diseases which, due to their rarity, can be difficult to identify. In this study, we aimed to provide an updated overview of Danish registries for medical genetic conditions and describe how data linkage across registries can be used to collect data on genetic diseases at the individual level and at the family level. We present a list of medical genetic registries in Denmark at the national level, data sources from the departments of clinical genetics and other specialized centers, and project-specific data sources. We also summarize key general registries, such as the Danish National Registry of Patients, the Danish Medical Birth Registry, and the Civil Registration System, which are renowned for their comprehensive and high quality data, and are useful supplemental data sources for genetic epidemiology research. We describe the potential for data linkage across multiple registries, which allows for access to medical histories with follow-up time spanning birth to death. Finally, we provide a brief introduction to the Danish epidemiological research setting and legalities related to data access. The Danish collection of medical registries is a valuable resource for genetic epidemiology research.

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The prevalence of X-linked hypohidrotic ectodermal dysplasia (XLHED) in Denmark, 1995–2010

Cited by 57 publications

References 26 publications

Reliability of prenatal detection of X‐linked hypohidrotic ectodermal dysplasia by tooth germ sonography

Reliability of prenatal detection of X‐linked hypohidrotic ectodermal dysplasia by tooth germ sonography

The characterization of hypodontia, hypohidrosis, and hypotrichosis associated with X‐linked hypohidrotic ectodermal dysplasia: A systematic review

Existing data sources for clinical epidemiology: Danish registries for studies of medical genetic diseases

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