Associations between ectodermal dysplasia, psychological distress and quality of life in a group of adults with oligodontia

Saltnes, Solfrid Sørgjerd; Jensen, Janicke Liaaen; Saeves, Rønnaug; Nordgarden, Hilde; Geirdal, Amy Østertun

doi:10.1080/00016357.2017.1357189

Cited by 24 publications

(25 citation statements)

References 33 publications

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“…34,35 Absent or misshaped teeth are frequently the reason to seek medical help for individuals with previously undiagnosed XLHED 34 and pose a significant psychosocial burden on the patients. 36 Although oligodontia is not life-threatening, it affects the quality of life and may be one of probably multiple causes of impaired postnatal weight gain as observed in our cohort of children with XLHED. Growth abnormalities with a reduced mean weight for age have also been observed by others.…”

Section: Discussionmentioning

confidence: 62%

“…Because of missing teeth, reduced alveolar processes, and mandibular hypoplasia, individuals with XLHED often have a typical facial appearance with a negative overjet . Absent or misshaped teeth are frequently the reason to seek medical help for individuals with previously undiagnosed XLHED and pose a significant psychosocial burden on the patients . Although oligodontia is not life‐threatening, it affects the quality of life and may be one of probably multiple causes of impaired postnatal weight gain as observed in our cohort of children with XLHED.…”

Section: Discussionmentioning

confidence: 66%

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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: 62%

Section: Discussionmentioning

confidence: 66%

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

et al. 2018

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“…In addition to the aesthetic and functional results, a treatment performed properly also helps in phonetics. As for the psychological aspect, you can considerably improve selfesteem and social interaction [12,18,26]. In this clinical case to obtain satisfactory results and because it is a child patient, that is, in the growth phase, we opted for removable functional appliances.…”

Section: Discussionmentioning

confidence: 99%

“…It is estimated that the frequency of the male population is 7:10,000 births [11]. These individuals' self-esteem is compromised and most often can change social life [12], especially if it is a child. Other consequences of this anomaly are loss of vertical dimension and the lip, resulting from improper development of the alveolar process lump, being caused by the absence of some dental elements [13].…”

Section: Introductionmentioning

confidence: 99%

“…Dental changes related to ED manifest early, can be easily detected in childhood. The diagnosis should occur as soon as possible so that treatment can contribute to physical, emotional and social development since patients with these conditions are usually withdrawn, shy and complexed [12,14]. Treatment of patients with the syndrome is complex and must have integral action and monitoring during the development of the child to the adult stage, in order to raise self-esteem and restore maximum functional and aesthetic [12,15,16].…”

Section: Introductionmentioning

confidence: 99%

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Patient Child Carrier of Ectodermal Dysplasia: Multidisciplinary Clinical Resolution in Dentistry

Geus¹,

Cunha²,

Ribeiro³

et al. 2019

ohdm

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The aim of this case report was to rehabilitate the child patient bearer of Ectodermal Dysplasia (ED), using all available therapies in dentistry. This is a male patient, age 8, leucoderma, which sought dental care, followed by his mother, went to the pediatric dentistry clinic at the State University of Ponta Grossa, Paraná, Brazil. We had to make anamnesis and clinical examination, where we noted the unusual anatomy and absence of some dental elements and dystrophic nails for scarce. We requested all documentation required to plan clinical treatment and procedures, involving pediatric dentistry, orthodontics, and surgery. Besides the oral rehabilitation, we observed an improvement in the self-esteem of the patient, who must be followed for future clinical approaches that can be applied according to the craniofacial growth.

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Prevalence and Patient Characteristics of Ectodermal Dysplasias in Denmark

Herlin,

Schmidt,

Hermann

et al. 2024

JAMA Dermatol

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ImportanceEctodermal dysplasias constitute a group of rare genetic disorders of the skin and skin appendages with hypodontia, hypotrichosis, and hypohidrosis as cardinal features. There is a lack of population-based research into the epidemiology of ectodermal dysplasias.ObjectiveTo establish a validated population-based cohort of patients with ectodermal dysplasia in Denmark and to assess the disease prevalence and patient characteristics.Design, Setting, and ParticipantsThis nationwide cohort study used individual-level registry data recorded across the Danish universal health care system to identify patients with ectodermal dysplasias from January 1, 1995, to August 25, 2021. A 3-level search of the Danish National Patient Registry and the Danish National Child Odontology Registry was conducted to identify patients with diagnosis codes indicative of ectodermal dysplasias; patients registered in the Danish RAREDIS Database, the Danish Database of Genodermatoses, and local databases were also added. The search results underwent diagnosis validation and review of clinical data using medical records. Of 844 patient records suggestive of ectodermal dysplasias, 791 patients (93.7%) had medical records available for review. Positive predictive values of the diagnosis coding were computed, birth prevalence was estimated, and patient characteristics were identified. Data analysis was performed from May 4 to December 22, 2023.ResultsThe identified and validated study cohort included 396 patients (median [IQR] age at diagnosis, 13 [4-30] years, 246 females [62.1%]), of whom 319 had confirmed ectodermal dysplasias and 77 were likely cases. The combined positive predictive value (PPV) for ectodermal dysplasia−specific diagnosis codes was 67.0% (95% CI, 62.7%-71.0%). From 1995 to 2011, the estimated minimum birth prevalence per 100 000 live births was 14.5 (95% CI, 12.2-16.7) for all ectodermal dysplasias and 2.8 (95% CI, 1.8-3.8) for X-linked hypohidrotic ectodermal dysplasias. A molecular genetic diagnosis was available for 241 patients (61%), including EDA (n = 100), IKBKG (n = 55), WNT10A (n = 21), TRPS1 (n = 18), EDAR (n = 10), P63 (n = 9), GJB6 (n = 9), PORCN (n = 7), and other rare genetic variants.Conclusions and RelevanceThe findings of this nationwide cohort study indicate that the prevalence of ectodermal dysplasias was lower than previously reported. Furthermore, PPVs of the search algorithms emphasized the importance of diagnosis validation. The establishment of a large nationwide cohort of patients with ectodermal dysplasias, including detailed clinical and molecular data, is a unique resource for future research in ectodermal dysplasias.

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Associations between ectodermal dysplasia, psychological distress and quality of life in a group of adults with oligodontia

Cited by 24 publications

References 33 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

Patient Child Carrier of Ectodermal Dysplasia: Multidisciplinary Clinical Resolution in Dentistry

Prevalence and Patient Characteristics of Ectodermal Dysplasias in Denmark

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