Ectodermal Dysplasia: Otolaryngologic evaluation of 23 Cases

Objective. This update of the 2008 American Academy of Otolaryngology-Head and Neck Surgery Foundation cerumen impaction clinical practice guideline provides evidencebased recommendations on managing cerumen impaction. Cerumen impaction is defined as an accumulation of cerumen that causes symptoms, prevents assessment of the ear, or both. Changes from the prior guideline include• a consumer added to the development group;• new evidence (3 guidelines, 5 systematic reviews, and 6 randomized controlled trials); • enhanced information on patient education and counseling; • a new algorithm to clarify action statement relationships;• expanded action statement profiles to explicitly state quality improvement opportunities, confidence in the evidence, intentional vagueness, and differences of opinion; • an enhanced external review process to include public comment and journal peer review; and • 3 new key action statements on managing cerumen impaction that focus on primary prevention, contraindicated intervention, and referral and coordination of care.Purpose. The primary purpose of this guideline is to help clinicians identify patients with cerumen impaction who may benefit from intervention and to promote evidence-based management. Another purpose of the guideline is to highlight needs and management options in special populations or in patients who have modifying factors. The guideline is intended for all clinicians who are likely to diagnose and manage patients with cerumen impaction, and it applies to any setting in which cerumen impaction would be identified, monitored, or managed. The guideline does not apply to patients with cerumen impaction associated with the following conditions: dermatologic diseases of the ear canal; recurrent otitis externa; keratosis obturans; prior radiation therapy affecting the ear; previous tympanoplasty/myringoplasty, canal wall down mastoidectomy, or other surgery affecting the ear canal.Key Action Statements. The panel made a strong recommendation that clinicians should treat, or refer to a clinician who can treat, cerumen impaction, defined as an accumulation of cerumen that is associated with symptoms, prevents needed assessment of the ear, or both.The panel made the following recommendations: (1) Clinicians should explain proper ear hygiene to prevent cerumen impaction when patients have an accumulation of cerumen. (2) Clinicians should diagnose cerumen impaction when an accumulation of cerumen, as seen on otoscopy, is associated with symptoms, prevents needed assessment of the ear, or both. (3) Clinicians should assess the patient with cerumen impaction by history and/or physical examination for factors that modify management, such as ≥1 of the following: anticoagulant therapy, immunocompromised state, diabetes mellitus, prior radiation therapy to the head and neck, ear canal stenosis, exostoses, and nonintact tympanic membrane. (4) Clinicians should not routinely treat cerumen in patients who are asymptomatic and whose ears can be adequately examined. (5) Clinicians s...

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“…While data are limited, these conditions can increase the frequency of cerumen impaction and the risk of otitis externa if present. 47…”

Section: Guideline Action Statementsmentioning

confidence: 99%

“…While data are limited, these conditions can increase the frequency of cerumen impaction and the risk of otitis externa if present. 47 Narrowing of the ear canal limits visualization and increases the likelihood of trauma. A narrow ear canal makes both irrigation and manual instrumentation more difficult to perform.…”

Section: Supporting Textmentioning

confidence: 99%

Clinical Practice Guideline (Update): Earwax (Cerumen Impaction)

Schwartz

Magit

Rosenfeld

et al. 2017

Otolaryngol.--head neck surg.

119

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“…Sweat glands and teeth of patients with HED are usually normal. But, sensorineural hearing loss, eye abnormalities, oral leukoplakia and diffuse eccrine poromatosis has been reported in a few cases …”

Section: Introductionmentioning

confidence: 99%

“…But, sensorineural hearing loss, eye abnormalities, oral leukoplakia and diffuse eccrine poromatosis has been reported in a few cases. 3,4 It has been demonstrated that mutation in gap junction beta 6 (GJB6) encoding Cx30 protein was determined in HED patients. To date, four mutations in GJB6 gene causing hidrotic ectodermal dysplasia have been found: G11R, V37E, A88V and D50N.…”

Section: Introductionmentioning

confidence: 99%

A known mutation in GJB6 in a large Chinese family with hidrotic ectodermal dysplasia

Yang

Kong

et al. 2016

Acad Dermatol Venereol

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“…HED is a rare congenital genetic disorder with a birth incidence of 1/100,000-1/10,000 (2). It is characterized by the diminution or absence of eccrine sweat glands, oligodontia and peg-shaped teeth, and hair that is sparse and fine (1,3). Previous study indicates that X-linked HED (XLHED) is caused by mutations of the ectodysplasin A (EDA) gene at Xq12-13.1 (4).…”

Section: Introductionmentioning

confidence: 99%

Effect of an EDA-A1 gene mutant on the proliferation and cell cycle distribution of cultured human umbilical vein endothelial cells

Lei

Wang

et al. 2015

Experimental and Therapeutic Medicine

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Ectodysplasin () gene mutation is associated with hypohidrotic ectodermal dysplasia (HED). The aim of this study was to investigate the effect of ectodysplasin, transcript variant 1 (EDA-A1) on the proliferation and cell cycle of ECV304 human umbilical vein endothelial cells (HUVECs). Recombinant eukaryotic expression vectors containing mutant (M) and wild-type (W) coding sequences, pcDNA3.1 (-)-EDA-A1-M and pcDNA3.1 (-)-EDA-A1-W, respectively, were transfected into ECV304 cells. The EDA-A1 gene was amplified by reverse transcription polymerase chain reaction (RT-PCR), and the protein was detected by western blotting. The EDA-A1 gene and protein were detected in ECV304 cells transfected with pcDNA3.1 (-)-EDA-A1-M and pcDNA3.1 (-)-EDA-A1-W, but not in ECV304 cells transfected with empty plasmid or cells that had not undergone transfection. Compared with the control group, the EDA-A1 gene mutant significantly decreased the proliferation of ECV304 cells and its inhibition rate was 45.70% (P<0.01), whereas the wild-type EDA-A1 gene did not cause such growth inhibition (P>0.05). A significant increase of the fraction of cells in the G/G phase of the cell cycle was observed in the ECV304 cells of the mutant group compared with wild type group, with an increase in the S phase population and a concomitant reduction in the G/M phase population (P<0.05). These results indicate that compared with the wild-type gene, transfection with a mutant EDA-A1 gene inhibited the proliferation and cell cycle of cultured HUVECs.

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Ectodermal Dysplasia: Otolaryngologic evaluation of 23 Cases

Cited by 14 publications

References 18 publications

Clinical Practice Guideline (Update): Earwax (Cerumen Impaction)

Clinical Practice Guideline (Update): Earwax (Cerumen Impaction)

A known mutation in GJB6 in a large Chinese family with hidrotic ectodermal dysplasia

Effect of an EDA-A1 gene mutant on the proliferation and cell cycle distribution of cultured human umbilical vein endothelial cells

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