Cases reported "Hypohidrosis"

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11/66. fatal outcome in a female monozygotic twin with X-linked hypohydrotic ectodermal dysplasia (XLHED) due to a de novo t(X;9) translocation with probable disruption of the EDA gene.

    Ectodermal dysplasias are a group of congenital disorders with defective development of the epidermis and its appendages. X-linked hypohydrotic ectodermal dysplasia (XLHED; OMIM 305100) is the most common form of ectodermal dysplasia. We report on two monozygotic twin girls with XLHED due to a t(X;9) translocation causing a disruption of the EDA gene and non random inactivation of the normal X chromosome. One of the girls died unexpectedly at 2.5 years of age. autopsy revealed that lack of normal tracheobronchial secretions leading to complete tracheal obstruction by mucous debris was the probable cause of death. CONCLUSION: morbidity and mortality of ectodermal dysplasias in infancy and early childhood can be significant. early diagnosis by paediatricians is important and complications should be anticipated.
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ranking = 1
keywords = ectodermal dysplasia, dysplasia, defect
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12/66. Hypohidrotic ectodermal dysplasia: dental, clinical, genetic and dermatoglyphic findings of three cases.

    patients with hypohidrotic ectodermal dysplasia (HED) are characterized by the clinical manifestations of hypodontia, hypohidrosis, hypotrichosis and a highly characteristic facial physiognomy. This disorder is inherited as an X-linked trait. This report presents three cases with HED in which the clinical evaluation (intraoral and radiological), genetic findings and SEM examination of hair. Boys 6 to 14 year old and a 11 year old girl were referred to the Marmara University, faculty of Dentistry, complaining of oligodontia in the maxillary and mandibular arches and delay in eruption of other teeth. Peg-shaped teeth have been observed. The dermatoglyphs of the patients were striking. SEM examination of hair demonstrated a distinctly abnormal longitudinal grooving along the entire length of each hair and a desquamation of the surface cuticles. The treatment was planned in a multidisciplinary odontological group involving pediatric dentistry, orthodontics, prosthodontics and oral surgery and maxillofacial radiology of future dental habilitation. A specially designed overdenture, a removable prosthesis and osseointegrated implants were constructed. Periodic recall visits were advised, to monitor the dentures and implants during periods of growth and development, and eruption of the permanent teeth.
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ranking = 1.6627086678203
keywords = ectodermal dysplasia, dysplasia
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13/66. A syndrome of hypohidrotic ectodermal dysplasia with normal teeth, peculiar facies, pigmentary disturbances, psychomotor and growth retardation, bilateral nuclear cataract, and other signs.

    This paper describes a 7-year-old girl with trichodysplasia, normal teeth, onychogryposis, hypohidrosis, psychomotor and growth retardation, dry and warm skin with follicular hyperkeratosis, pigmentary disturbances (hyper- and hypochromic spots), bilateral nuclear cataract, dermatoglyphic anomalies, and other signs. This condition is considered a new form of ectodermal dysplasia.
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ranking = 1.6631836154916
keywords = ectodermal dysplasia, dysplasia
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14/66. sweating in the 'anhidrotic type' of congenital ectodermal dysplasia.

    Whole body sweat rate in two brothers suffering from congenital ectodermal dysplasia (CED) was measured. At a moderate heat load (DBT 30 degrees C and 50% relative humidity) we found no apparent weight loss due to sweating. At a higher heat load (DBT 36 degrees C, 50% relative humidity) sweating was observed, but only at levels approximately two thirds of those observed in normal controls. In the light of these experimental results, we support the suggestion that the nomenclature for CED patients should be changed. Instead of the present classification of anhidrotic CED and hidrotic CED, it is suggested that the terms hypohidrotic and hidrotic be substituted.
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ranking = 1.9132554884644
keywords = ectodermal dysplasia, anhidrotic, dysplasia
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15/66. Deficient natural killer cell cytotoxicity in patients with IKK-gamma/NEMO mutations.

    NF-kappaB essential modifier (NEMO), also known as IKK-gamma, is a member of the I-kappaB kinase complex responsible for phosphorylating I-kappaB, allowing the release and activation of NF-kappaB. Boys with an expressed NEMO mutation have an X-linked syndrome characterized by hypohidrotic ectodermal dysplasia with immune deficiency (HED-ID). The immunophenotype resulting from NEMO mutation is highly variable, with deficits in both T and B cell responses. We evaluated three patients with NEMO mutations (L153R, Q403X, and C417R) and HED-ID who had evidence of defective CD40 signaling. All three patients had normal percentages of peripheral blood NK cells, but impaired NK cell cytotoxic activity. This was not due to a generalized defect in cytotoxicity because antibody-dependent cellular cytotoxicity was intact. This abnormality was partially reversed by in vitro addition of IL-2, which was also able to induce NF-kappaB activation. In one patient with recurrent cytomegalovirus infections, administration of IL-2 partially corrected the NK cell killing deficit. These data suggest that NEMO participates in signaling pathways leading to NK cell cytotoxicity and that IL-2 can activate NF-kappaB and partially overcome the NK cell defect in patients with NEMO mutations.
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ranking = 0.33254191641807
keywords = ectodermal dysplasia, dysplasia, defect
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16/66. Hypohidrotic ectodermal dysplasia with tibial aplasia.

    We report an inbred Tunisian family, in which 19 members had an ectodermal syndrome involving the teeth, hair, nails and skin. Ectrodactyly occurred as an isolated manifestation in one, and with tibial aplasia in two others. None had facial clefts. Dysplastic ears were part of the syndrome.
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ranking = 1.3301669342562
keywords = ectodermal dysplasia, dysplasia
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17/66. Bilateral panuveitis in a child with hypohidrotic ectodermal dysplasia.

    PURPOSE: To report a case of bilateral panuveitis in a patient with hypohidrotic ectodermal dysplasia. DESIGN: Interventional case report. methods: A 6-year-old African-American boy with hypohidrotic ectodermal dysplasia presented with pain, photophobia, and decreased vision in both eyes. RESULTS: Findings included severe bilateral panuveitis with optic disk edema, macular epiretinal membrane, peripheral retinal vasculitis, and retinitis. All other known causes of panuveitis were explored and ruled out. CONCLUSIONS: The abnormal development of tissues of ectodermal origin evident in hypohidrotic ectodermal dysplasia may include a predisposition to panuveitis.
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ranking = 2.3277921349484
keywords = ectodermal dysplasia, dysplasia
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18/66. Clinical management of hypohidrotic ectodermal dysplasia with anodontia: case report.

    ectodermal dysplasia is a rare hereditary disorder with a characteristic physiognomy. The case of a 5-year-old child with hypohidrotic ectodermal dysplasia and complete anodontia is presented. Because of the anodontia and the need for treatment at an early age, the prosthetic management of such a young child can be difficult. Complete dentures were provided to encourage a normal psychological development and to improve the function of the stomatognathic system.
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ranking = 1.6631836154916
keywords = ectodermal dysplasia, dysplasia
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19/66. ectodermal dysplasia with total anodontia: rehabilitation of a seven year old child.

    Total anodontia in a paediatric patient is a difficult prosthetic problem. Upper and lower complete dentures were fabricated for a 7 year old patient with anodontia. The problems encountered on account of the age of the child, the absence of alveolar processes, the tooth size and acceptability of the dentures are discussed herein.
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ranking = 0.0018997906852016
keywords = dysplasia
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20/66. Hypohidrotic ectodermal dysplasia associated with squamous cell carcinoma of the trachea.

    Hypohidrotic ectodermal dysplasia (HED) is a rare condition characterized by abnormalities to ectodermal derived tissues although other organs or systems are frequently involved. patients with HED can have a number of symptoms that may lead them to present to the otolaryngologist. We present a case of a 37-year-old female with HED who initially presented with nasal obstruction but then very rapidly developed stridor due to a tracheal squamous cell carcinoma. We suggest a possible association between HED and carcinoma of the upper respiratory tract that has not previously been reported.
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ranking = 1.6627086678203
keywords = ectodermal dysplasia, dysplasia
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