Dental Findings in Patients with Ectodermal Dysplasia

Präger, Thomas Michael; Finke, Christian; Miethke, Rainer‐Reginald

doi:10.1007/s00056-006-0619-4

Cited by 35 publications

(52 citation statements)

References 22 publications

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“…Intraoral examination revealed multiple congenitally missing teeth, root and crown dysmorphism, mainly conical-shaped crowns, and reduced salivary flow ( Fig. 4 ) [Präger et al, 2006;Lexner et al, 2007]. Moreover, he showed hypohidrosis with heat intolerance, just as his mother ( Fig.…”

Section: Case Reportmentioning

confidence: 99%

X-Linked Hypohidrotic Ectodermal Dysplasia: New Features and a Novel EDA Gene Mutation

Savasta

Carlone

Castagnoli

et al. 2017

Cytogenet Genome Res

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We described a 5-year-old male with hypodontia, hypohidrosis, and facial dysmorphisms characterized by a depressed nasal bridge, maxillary hypoplasia, and protuberant lips. Chromosomal analysis revealed a normal 46,XY male karyotype. Due to the presence of clinical features of hypohidrotic ectodermal dysplasia (HED), the EDA gene, located at Xq12q13.1, of the patient and his family was sequenced. Analysis of the proband's sequence revealed a missense mutation (T to A transversion) in hemizygosity state at nucleotide position 158 in exon 1 of the EDA gene, which changes codon 53 from leucine to histidine, while heterozygosity at this position was detected in the slightly affected mother; moreover, this mutation was not found in the publically available Human Gene Mutation Database. To date, our findings indicate that a novel mutation in EDA is associated with X-linked HED, adding it to the repertoire of EDA mutations.

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Section: Case Reportmentioning

confidence: 99%

X-Linked Hypohidrotic Ectodermal Dysplasia: New Features and a Novel EDA Gene Mutation

Savasta

Carlone

Castagnoli

et al. 2017

Cytogenet Genome Res

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“…In the first case, only one tooth is developing in the mandibular canine region. In the second, only one molar is present in the maxilla severe phenotypes is associated with homozygous patients [7,17]. In this case report, we found two hemizygous male subjects each with only one tooth and heterozygous females with agenesis predominantly of the lateral maxillary incisors.…”

Section: Discussionmentioning

confidence: 51%

“…The oral phenotype includes multiple congenitally missing teeth, root and crown dysmorphism, mainly conical-shaped crowns, and reduced saliva flow [7,8]. Microdontia is frequently observed in affected individuals [9].…”

Section: Introductionmentioning

confidence: 99%

Orofacial features of hypohidrotic ectodermal dysplasia

2012

Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology

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Hypohidrotic ectodermal dysplasia (HED) is a type of genodermatosis characterized by the abnormal development of sweat glands, teeth, and hair. The most prevalent form of HED is X-linked hypohidrotic ectodermal dysplasia (XLHED), which is associated with mutations in the EDA gene. The aim of this case report was to describe a family with XLHED with emphasis on differences in orofacial features between members. Family members were systematically evaluated to characterize the pattern of inheritance and clinical features. Dental examination included evaluation of agenesis and abnormal teeth structure. The pedigree of the last seven generations of the family was constructed. Clinical examination and medical history revealed five males affected by HED and nine female as heterozygous carriers. The males exhibited the classic phenotype of XLHED, with dental abnormalities, hypohydrosis, and craniofacial dysmorphologies. The heterozygous carriers of the X-linked gene defect principally exhibited dental agenesis of the lateral maxillary incisors. Careful clinical examination, including dental evaluation, is an important way to detect heterozygous carriers of X-linked HED. Heterozygous parents of patients with HED may also show some features of the disorder. The identification of female carriers results in genetic counseling being offered to affected families, as well as providing adequate treatment as necessary and long-term follow-up of these patients.

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“…The description of anhidrotic ectodermal dysplasia was first given by Widderburn in a Hindu family in 1838, and the complete syndrome was later designated as hereditary ectodermal dysplasia by Weech [3]. The classical syndrome occurs in an Xlinked recessive manner and shows complete expression in males [7], whereas the female carriers show only partial manifestations as heterozygotes [3,5]. The classical facial features include prominent frontal ridges and chin, saddle-nose, broad nasal tip, sunken cheeks, thick everted lips, large ears and supraciliary madarosis [5,6].…”

Section: Discussionmentioning

confidence: 99%

“…It is characterized by absent or reduced sweating, hypotrichosis, dysodontia with episodes of hyperthermia [4][5][6]. Unusual features of HED include atrophic rhinitis, nasal and aural myiasis, syndactyly, cleft lip and/or palate, mental retardation, recurrent respiratory infections [3,5,7].…”

Section: Introductionmentioning

confidence: 99%