Clinical Findings in Mosaic Carriers of Hypohidrotic Ectodermal Dysplasia

Cambiaghi, Stefano; Restano, Lucia; Pääkkönen, Kati; Caputo, Ruggero; Kere, Juha

doi:10.1001/archderm.136.2.217

Cited by 65 publications

(50 citation statements)

References 21 publications

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“…Scalp hair is typically thin and light in heterozygous subjects [18]; however, the degree of hypotrichosis is highly variable [18,27]. In this study, hypohidrosis was not apparent, except in male subjects, but hypohidrosis is only partial in heterozygous subjects and may not be prominent [18]. Nail dysplasia was observed in one male with HED and in two females, but not in other heterozygous carriers.…”

Section: Discussioncontrasting

confidence: 45%

“…Dental agenesis is found in heterozygous HED females, particularly involving the maxillary lateral incisors, mandibular incisors, and first molars [8,18,25]. Interestingly, the higher frequency of tooth agenesis observed in the most .…”

Section: Discussionmentioning

confidence: 97%

“…The clinical diagnosis of HED is easy, especially after the first year of life when medical history and clinical findings become highly characteristic [18]. After the initial diagnosis, the pattern of inheritance should be determined, since X-linked hemizygous males and autosomal recessive forms are not phenotypically distinguishable [19].…”

Section: Discussionmentioning

confidence: 99%

“…After the initial diagnosis, the pattern of inheritance should be determined, since X-linked hemizygous males and autosomal recessive forms are not phenotypically distinguishable [19]. One of the main tasks in the case of a patient with HED is to find other possible carriers of the disorder in the patient's family and to analyze the pattern of inheritance [18]. Clinical analyses of the families with XLHED are useful for checking carrier status and also provide information for genetic counseling and diagnosis of other affected members.…”

Section: Discussionmentioning

confidence: 99%

“…Teeth abnormalities were the most constant marker of the disorder in our nine heterozygous females with XLHED. Dental abnormalities can be considered a key feature since they are easily noted at a young age and should lead to diagnostic suspicion [18,24]. Variability in dental phenotype has been described in heterozygous HED females, with moderate oligodontia, cone-shaped incisors, and delayed dental eruption [8,18,25].…”

Section: Discussionmentioning

confidence: 99%

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Orofacial Features of Hypohidrotic Ectodermal Dysplasia

Aquino

Paranaíba

Swerts

et al. 2012

Head and Neck Pathol

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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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Section: Discussioncontrasting

confidence: 45%

Section: Discussionmentioning

confidence: 97%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Orofacial Features of Hypohidrotic Ectodermal Dysplasia

Aquino

Paranaíba

Swerts

et al. 2012

Head and Neck Pathol

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Pitfalls in Clinical Diagnosis of Female Carriers of X-linked Hypohidrotic Ectodermal Dysplasia

Vincent¹

2002

Archives of Dermatology

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Hair and Sweat Glands in Families With Hypohidrotic Ectodermal Dysplasia

Rouse¹,

Siegfried²,

Breer³

et al. 2004

Arch Dermatol

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To gather and compare clinical and histologic information from individuals affected by hypohidrotic ectodermal dysplasia (HED) and unaffected control subjects and to assess the value of these data in the diagnosis of HED.Design: Volunteer subjects attending the 20th Annual Family Conference of the National Foundation for Ectodermal Dysplasia answered a questionnaire and performed a starch-iodide sweat-function test. A subset of the subjects also donated samples of hair and 4-mm punch biopsy specimens of palmar and scalp skin. Specimens from each of these tests were assessed in a blinded fashion. Analysis was performed comparing affected and control subjects for each of the following parameters: quantification of eccrine structures in the skin biopsy specimens, analysis of hair sample trichograms for hair shaft defects, and qualitative classification of starchiodide palm-print sweat-function test results.Setting: An international conference for families and individuals with ectodermal dysplasias.Subjects: A total of 40 subjects were included in the final analysis: 15 unaffected control subjects and 25 subjects with HED. Nine affected subjects and 9 unaffected subjects donated skin biopsy specimens.Main Outcome Measure: This study was designed to assess the value of 4 simple tests in supporting the diagnosis of HED.

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Clinical Findings in Mosaic Carriers of Hypohidrotic Ectodermal Dysplasia

Cited by 65 publications

References 21 publications

Orofacial Features of Hypohidrotic Ectodermal Dysplasia

Orofacial Features of Hypohidrotic Ectodermal Dysplasia

Pitfalls in Clinical Diagnosis of Female Carriers of X-linked Hypohidrotic Ectodermal Dysplasia

Hair and Sweat Glands in Families With Hypohidrotic Ectodermal Dysplasia

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