Palatal Size and Shape in 6-Year Olds Affected by Hypohidrotic Ectodermal Dysplasia

Dellavia, Claudia; Sforza, Chiarella; Malerba, A.; Strohmenger, L; Ferrario, Virgilio F.

doi:10.2319/111105-395

Cited by 8 publications

(12 citation statements)

References 23 publications

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“…The mechanisms responsible for these subtle morphological changes remain unclear. Our results have to be supported by further investigations in order to precise whether these changes correspond to compensations for other craniofacial dysmorphologies – e.g., the reduced and retrognatic maxilla – observed in XLHED patients (Bondarets et al, 2002; Johnson et al, 2002; Dellavia et al, 2006) but not yet demonstrated in mutant Ta mice or are caused directly by the mutation itself. However, the noticeable mandibular changes parallel the marked abnormalities of the lower tooth row (Kristenova et al, 2002; Peterkova et al, 2002).…”

Section: Discussionmentioning

confidence: 54%

Subtle Morphological Changes in the Mandible of Tabby Mice Revealed by Micro-CT Imaging and Elliptical Fourier Quantification

Bornert¹,

Choquet²,

Gros³

et al. 2011

Front. Physio.

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X-linked hypohidrotic ectodermal dysplasia (XLHED) is a genetic disorder due to a mutation of the EDA gene and is mainly characterized by an impaired formation of hair, teeth and sweat glands, and craniofacial dysmorphologies. Although tooth abnormalities in Tabby (Ta) mutant mice – the murine model of XLHED – have been extensively studied, characterization of the craniofacial complex, and more specifically the mandibular morphology has received less attention. From 3D micro-CT reconstructions of the left mandible, the mandibular outline observed in lateral view, was quantified using 2D elliptical Fourier analysis. Comparisons between Ta specimens and their wild-type controls were carried out showing significant shape differences between mouse strains enabling a clear distinction between hemizygous Ta specimens and the other mouse groups (WT and heterozygous EdaTa/+ specimens). Morphological differences associated with HED correspond not only to global mandibular features (restrained development of that bone along dorsoventral axis), but also to subtle aspects such as the marked backward projection of the coronoid process or the narrowing of the mandibular condylar neck. These modifications provide for the first time, evidence of a predominant effect of the Ta mutation on the mandibular morphology. These findings parallel the well described abnormalities of jugal tooth row and skeletal defects in Ta mice, and underline the role played by EDA-A in the reciprocal epithelial–mesenchymal interactions that are of critical importance in normal dental and craniofacial development.

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Section: Discussionmentioning

confidence: 54%

Subtle Morphological Changes in the Mandible of Tabby Mice Revealed by Micro-CT Imaging and Elliptical Fourier Quantification

Bornert¹,

Choquet²,

Gros³

et al. 2011

Front. Physio.

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“…D ellavia et al. (11) found reduced palatal dimensions in boys with HED, which were significantly modified by the presence of teeth. The vertical dimension of hard tissue palate was smaller in completely edentulous than in partially dentate children.…”

Section: Discussionmentioning

confidence: 99%

“…To maximize the clinical therapeutic outcome in patients still undergoing skeletal growth, potential ED‐specific facial growth patterns should be assessed by using qualitative and quantitative methods (6). To date, facial features in ED‐affected subjects have been analyzed in several cephalometric and anthropometric investigations (1, 3–5, 11, 12). Recently, L exner et al.…”

mentioning

confidence: 99%

“…Common phenotypic features of patients suffering from all forms of HED are frontal bossing, everted lips, saddle nose, hypopigmented skin, reduced vertical facial height and cranial base width, small hard tissue palate, high-set orbits, and a prominent chin, attributing them a typical Ôaged-faceÕ aspect (1,3,5,(10)(11)(12). Moreover, afflicted patients present with extensive lack of both deciduous and permanent teeth and with hypoplasia of the alveolar processes.…”

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confidence: 99%

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Non‐invasive longitudinal assessment of facial growth in children and adolescents with hypohidrotic ectodermal dysplasia

Dellavia

Catti

Sforza

et al. 2008

European J Oral Sciences

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Facial growth patterns in 12 subjects (six boys and six girls) with hypohidrotic ectodermal dysplasia (HED) were analyzed and compared with facial growth patterns obtained in healthy reference peers. All subjects with HED were aged 7 yr (mean age +/- standard deviation: 7.08 +/- 0.41 yr) at the first examination and 14 yr (mean age +/- standard deviation: 14.56 +/- 0.34 yr) at the last examination. In each subject, the three-dimensional coordinates of facial landmarks were collected non-invasively at eight subsequent years. The volumes of forehead, nose, maxilla and mandible, upper lips, and lower lips were estimated. For each facial volume, differential values between different time points were calculated individually, separately for the 'childhood' (7-10 yr) and the 'adolescence' (11-14 yr) growth period in both HED and reference subjects. Children and adolescents with HED had a slightly reduced global facial growth in comparison with normal reference peers. The peak mandibular and maxillary development was delayed by approximately 2 yr towards later adolescence. The present non-invasive system seems to be useful for studying longitudinal changes of facial growth in healthy and syndromic subjects.

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“…[2][3][4][5] The scalp hair in patients with ED is often lightpigmented, thin, dry, brittle, and sparse; eyebrows and/or eyelashes may be sparse or absent. [6][7][8][9][10] Described hair disorders include the partial or total hair loss, chronic dermatitis of the scalp with the formation of crusts (Rapp-Hodgkin syndrome), trichorrhexis nodosa, pili torti, pili canaliculi, or trichothiodystrophy. [11][12][13][14][15][16] In recent years, physicians have utilized an additional diagnostic tool for hair and scalp disorders-trichoscopy (hair and scalp dermoscopy), 17-21 a rapid in-office technique, which has become a standard procedure in differential diagnosis of hair loss.…”

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confidence: 99%

Trichoscopic Hair Evaluation in Patients with Ectodermal Dysplasia

Rakowska

Górska

Rudnicka

et al. 2015

The Journal of Pediatrics

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Palatal Size and Shape in 6-Year Olds Affected by Hypohidrotic Ectodermal Dysplasia

Abstract: Palatal size and shape were significantly modified by the presence of hypohidrotic ectodermal dysplasia, and the major alterations were found in edentulous HED subjects.

Cited by 8 publications

References 23 publications

Subtle Morphological Changes in the Mandible of Tabby Mice Revealed by Micro-CT Imaging and Elliptical Fourier Quantification

Subtle Morphological Changes in the Mandible of Tabby Mice Revealed by Micro-CT Imaging and Elliptical Fourier Quantification

Non‐invasive longitudinal assessment of facial growth in children and adolescents with hypohidrotic ectodermal dysplasia

Trichoscopic Hair Evaluation in Patients with Ectodermal Dysplasia

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