Head and Neck Manifestations and Quality of Life of Patients with Ectodermal Dysplasia

Mehta, Umang; Brunworth, Joseph; Fete, Timothy J.; Sindwani, Raj

doi:10.1016/j.otohns.2006.11.038

Cited by 30 publications

(26 citation statements)

References 8 publications

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“…91 It affects ectodermal structures and is associated to hypo/anodontia on both milk and permanent dentitions, impacted teeth, variations in size and shape of teeth, mineralisation disturbances, multiple diastemas and under-developed alveolar ridges. 92 Dental implants have been proposed as an effective treatment both in adults and children affected by this disease.…”

Section: Ectodermal Dysplasiamentioning

confidence: 99%

Dental implants in patients affected by systemic diseases

Donos

Calciolari

2014

Br Dent J

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Several systemic diseases (and relative medications) have been reported to impair or in some cases complicate dental implant surgery. In broader terms, when dealing with patients suffering from systemic diseases, the monitoring of the medical condition and of the related post-operative complications is of great importance in order to avoid risks which could jeopardise the health of the patient. In this review, the available evidence on implant survival/success, as well as relevant surgical recommendations in patients affected by systemic diseases, are evaluated and when possible, practical suggestions for the clinician are provided.

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Section: Ectodermal Dysplasiamentioning

confidence: 99%

Dental implants in patients affected by systemic diseases

Donos

Calciolari

2014

Br Dent J

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“…Patients with HED have dry nose with crusting and concretion of nasal secretions, rhinitis and ozena (5–7), rhinosinusitis and infection, otitis media and speech and hearing impairment, and sore throat (8–10). These clinical phenotypes have been attributed to reduced sinonasal and auditory tube glands, reduced ciliary function and decreased salivary gland function (9).…”

Section: Introductionmentioning

confidence: 99%

Ectodysplasin signalling deficiency in mouse models of hypohidrotic ectodermal dysplasia leads to middle ear and nasal pathology

et al. 2016

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Hypohidrotic ectodermal dysplasia (HED) results from mutation of the EDA, EDAR or EDARADD genes and is characterized by reduced or absent eccrine sweat glands, hair follicles and teeth, and defective formation of salivary, mammary and craniofacial glands. Mouse models with HED also carry Eda, Edar or Edaradd mutations and have defects that map to the same structures. Patients with HED have ear, nose and throat disease, but this has not been investigated in mice bearing comparable genetic mutations. We report that otitis media, rhinitis and nasopharyngitis occur at high frequency in Eda and Edar mutant mice and explore the pathogenic mechanisms related to glandular function, microbial and immune parameters in these lines. Nasopharynx auditory tube glands fail to develop in HED mutant mice and the functional implications include loss of lysozyme secretion, reduced mucociliary clearance and overgrowth of nasal commensal bacteria accompanied by neutrophil exudation. Heavy nasopharynx foreign body load and loss of gland protection alters the auditory tube gating function and the auditory tubes can become pathologically dilated. Accumulation of large foreign body particles in the bulla stimulates granuloma formation. Analysis of immune cell populations and myeloid cell function shows no evidence of overt immune deficiency in HED mutant mice. Our findings using HED mutant mice as a model for the human condition support the idea that ear and nose pathology in HED patients arises as a result of nasal and nasopharyngeal gland deficits, reduced mucociliary clearance and impaired auditory tube gating function underlies the pathological sequelae in the bulla.

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“…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]. Patients also have alopecia, otitis media, cerumen impaction, nasal obstruction/crusting, heat intolerance, and eczema, intolerance to heat and episodes of hyperpyrexia [5,6,9].…”

Section: Discussionmentioning

confidence: 99%

“…Surgical options for atrophic rhinitis are also not completely satisfactory with failures and recurrences owing to primary defects in the development of structures derived from embryonic ectoderm [8]. Partial closure of both nostrils to improve the condition of nasal mucosa may be useful in the management [9].…”

Section: Discussionmentioning

confidence: 99%