Ectodermal Dysplasia: Retrospective Study of Fifteen Cases

Yavuz, İzzet; Baskan, Zelal; Ülkü, Refık; Dülgergil, Türksel; Dari, Osman; Ece, Aydın; Yavuz, Yasemin; Dari, K. Oya

doi:10.1016/j.arcmed.2005.06.016

Cited by 59 publications

(81 citation statements)

References 9 publications

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“…In addition, XLHED may have emotional consequences for affected individuals at an early age (Yavuz et al, 2006). The clinical findings of the affected male in the family examined fall within the scope of previous reports showing defective development of hair, teeth, nails, and skin Chao et al, 2003;Lin et al, 2004;Na et al, 2004;Huang et al, 2006;Tao et al, 2006;Tariq et al, 2007;Fan et al, 2008).…”

Section: Discussionsupporting

confidence: 53%

Missense mutation of the EDA gene in a Jordanian family with X-linked hypohidrotic ectodermal dysplasia: phenotypic appearance and speech problems

Khabour

Mesmar²,

Al-Tamimi³

et al. 2010

Genet. Mol. Res.

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ABSTRACT. Mutations in the EDA gene are responsible for X-linked hypohidrotic ectodermal dysplasia, the most common form of ectodermal dysplasia. Males show a severe form of this disease, while females often manifest mild to moderate symptoms. We identified a missense mutation (c.463C>T) in the EDA gene in a Jordanian family, using direct DNA sequencing. This mutation leads to an amino acid change of arginine to cysteine in the extracellular domain of ectodysplasin-A, a protein encoded by the EDA gene. The phenotype of a severely affected 11-year-old boy with this mutation included heat intolerance, sparse hair (hypotrichosis), absence of 17 teeth (oligodontia), speech problems, and damaged eccrine glands, resulting in reduced sweating (anhidrosis). Both the mother (40 years old) and the sister (10 years old) were carriers with mild to moderate symptoms of this disease, while the father was healthy. This detailed description of the phenotype caused by this missense mutation could be useful for prenatal diagnosis.

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Section: Discussionsupporting

confidence: 53%

Missense mutation of the EDA gene in a Jordanian family with X-linked hypohidrotic ectodermal dysplasia: phenotypic appearance and speech problems

Khabour

Mesmar²,

Al-Tamimi³

et al. 2010

Genet. Mol. Res.

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“…Female cases who carry only a copy of the disease gene (heterozygote carriers) are likely to present with some signs and findings associated with the disorder. There are also reports that have been documented in literature suggesting that HED seems to have been inherited as an autosomal recessive genetic trait, in which the disorder is fully expressed in both male and female cases [9,16,17]. In the current study, the number of female cases (11) is seen to be lower than that of males (13 cases).…”

Section: Discussioncontrasting

confidence: 43%

“…The function and comfort of the eye is therefore disturbed. Alterations of the eyebrows and lashes are mentioned in combination with several ectodermal dysplasia syndromes [6,9]. Most recently, Callea et al [10] have reported infantile bilateral glaucoma in a child with ectodermal dysplasia.…”

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confidence: 99%

Ophthalmic Manifestations in Patients with Ectodermal Dysplasia Syndromes

Keklíkçí¹,

Yavuz²,

Tunik³

et al. 2014

Adv Clin Exp Med

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Background. Ectodermal dysplasia (ED) is a disorder that results from abnormal formation of at least two of the four major ectodermal derivatives in the developing embryo. The ectoderm of the embryo forms the skin, teeth, hair and nails, sweat glands and part of the eyes. Objectives. The aim of this article is to reveal ophthalmologic symptoms and signs as multidisciplinary, reliable criteria for ectodermal dysplasia. Material and Methods. In this retrospective study, 24 patients with ED were analyzed from the recorded data. Ophthalmological examination of the patients, who had previously received the diagnosis of ED in the dental department, was done. During the examination, ocular symptoms related to tear film, corneal changes, lacrimal duct, periorbital hyperpigmentation, alteration lashes and eyebrows were evaluated. Results. The age ranged between 3-45, and the mean and standard deviation (Mean ± SD) was 15.8 ± 7.4 years. The number of males was 13 (54.2%) and females, 11 (45.8%). Eighteen patients (75.0%) suffered from ocular complaints related to the ocular surface. In 11 of the patients with ED, there were dry eye symptoms. While the mean age of cases with eye involvement was 17.5, it was 23.1 in cases with dry eye symptoms. Conclusions. In the study, it was observed that, in patients with ED, ocular complaints, particularly dry eye symptoms, may increase as age advances (Adv Clin Exp Med 2014, 23, 4, 605-610).

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“…From a dermatological standpoint, eczematous lesions, hypotrichosis and agenesis or dystrophia of the sweat glands, cause problems with thermoregulation and have been observed in the various forms of HED 26 . Systemically, the different exocrine glands of the body are also dystrophic, and this is, in particular, the cause of inflammation of the respiratory and digestive tracts.…”

Section: -Presentation Of Clinical and Molecular Aspects Of Hypohidromentioning

confidence: 99%

Multidisciplinary treatment plan for multiple dental ageneses associated with hypohidrotic ectodermal dysplasias

Clauss¹,

Mathis²,

Obry³

et al. 2014

J Dentofacial Anom Orthod

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Hypohidrotic ectodermal dysplasias (HED) are a heterogeneous and complex group of syndromes characterized by a dental craniofacial phenotype associated with severe oligodontia, maxillary hypoplasia with broad face and most notably facial concavity. Cephalometric analyses show insufficient maxillary sagittal growth, a protruded mandible, reduced facial and ramus heights, as well as basicranial changes. Early diagnosis and care from a multidisciplinary team are essential. In the primary dentition, initial prosthetic treatment is recommended and may possibly be combined with interceptive orthodontic treatment. In the mixed dentition, treatment of a transverse maxillary deficiency consists in installing a removable expander or a quadhelix in the case of moderate phenotypes where there is adequate anchorage support. To achieve mandibular anterior repositioning of the maxilla the patient must wear a facial mask. In the permanent dentition, the important steps are correlated with the pre-implant and pre-prosthetic orthodontic adjustments, as well as the presurgical orthodontic preparation that precedes subsequent single or double jaw orthognathic surgery. Temporary skeletal anchorage with mini-screws or plates can be used in cases of insufficient anchorage. KEY WORDS

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Ectodermal Dysplasia: Retrospective Study of Fifteen Cases

Cited by 59 publications

References 9 publications

Missense mutation of the EDA gene in a Jordanian family with X-linked hypohidrotic ectodermal dysplasia: phenotypic appearance and speech problems

Missense mutation of the EDA gene in a Jordanian family with X-linked hypohidrotic ectodermal dysplasia: phenotypic appearance and speech problems

Ophthalmic Manifestations in Patients with Ectodermal Dysplasia Syndromes

Multidisciplinary treatment plan for multiple dental ageneses associated with hypohidrotic ectodermal dysplasias

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