Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0262471 (ENT)
 5,307 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Ozena is quite a common clinical finding in ENT practice in many countries, but even if the pathological picture is clear, its etiology is unknown. We report on two young females in which ozena was the presenting symptom of a rare and severe genetic disorder (hypohidrotic ectodermal dysplasia, HED). Etiopathogenetic theories on ozena and genetic problems of HED are discussed.
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PMID:Ozena as presenting symptom of a rare and severe genetic disease: hypohidrotic ectodermal dysplasia. 650 Aug 29

The syndrome ectodermal dysplasia is approached especially from the ENT-specialist's point of view. One case of this rare syndrome is reported and discussed.
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PMID:[Ectodermal dysplasia (author's transl)]. 723 Sep 94

We would like to present the rare case of a now 37-year old female patient with autosomal-recessively inherited anhidrotic ectodermal dysplasia being treated in our ENT department for atrophic rhinitis. The clinical appearance very much resembled the picture of an "empty nose" with distinct hypoplasia of the turbinates and extensively wide nasal cavities. We want to point out the possible existence of atrophic rhinitis against the background of an underlying syndromatic disease in adults and also the pediatric patient.
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PMID:Atrophic rhinitis in a patient with anhidrotic ectodermal dysplasia. 1621 20

The aim of this prospective study was to improve the quality of life of and reduce morbidity for patients with ectodermal dysplasia by assessing their actual and potential ENT pathologies, and offering methods of prevention and treatment. The study was conducted between 2006 and 2008 and included 23 patients diagnosed with ectodermal dysplasia. The major symptoms of ectodermal dysplasia were evaluated. Patient histories were obtained in all cases, and a complete head and neck examination was carried out. Of the 23 patients (11 males and 12 females, aged 5 to 45 years) diagnosed with ectodermal dysplasia, 22 had hypohidrotic ectodermal dysplasia and 1 had ectrodactyly-ectodermal dysplasia-clefting syndrome. In all patients diagnosed with hypohidrotic ectodermal dysplasia, the salivary glands were examined by ultrasonography and, when necessary, by scintigraphy. Hearing defects in patients with otologic problems were determined by audiometric examination: 39.1% of the patients had hearing loss, 43.5% had otitis media, and 39.1% had impacted cerumen. The most common rhinologic findings were saddle nose deformity in 56.5%, nasal obstruction and nasal dryness (52.2% each), and chronic rhinitis/rhinosinusitis (34.8%). The most common oral and oropharyngeal findings were difficulty chewing in 82.6% and dry mouth in 78.3%. All 23 patients had required dental work. Because this disorder affects several aspects of the body, its treatment requires a multidisciplinary approach, with the otolaryngologist being a vital part of the management team.
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PMID:Ectodermal dysplasia: otolaryngologic evaluation of 23 cases. 2235 43

Hypohydrotic (Anhidrotic) Ectodermal dysplasia is a rare hereditary genodermatosis characterized by a triad of defects including hypohidrosis hypotrichosis and anomalous dentition. Mainly ectodermal structures are involved such as epidermis and its annexes (hair & nails), although non-ecotodermal tissue may also became involved(1). ENT involvement in such cases is a consequence of the defect involving the eccrine and sebaceous glands. A case of a 3 years old female child suffering from hypohidrotic ectodermal dysplasia with features of Atrophic Rhinitis from infancy & early childhood is reported here. Management of these patients is mainly supportive and otolaryngologist is a vital component of the health care team managing such patients.
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PMID:Hypohidrotic (Anhidrotic) Ectodermal dysplasia - A rare cause of childhood Atrophic Rhinitis". 2312 Feb 89