Cases reported "Hypohidrosis"

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21/66. Congenital sensory neuropathy with anhidrosis (hereditary sensory neuropathy type IV).

    Hereditary sensory neuropathies comprise a group of rare childhood diseases which are classified into four types. We present a Greek boy 11 years old with hereditary sensory neuropathy type IV (congenital sensory neuropathy with anhidrosis) whom we have followed up and studied during the last seven years. Our patient presented for the first time with recurrent hyperthermic episodes without sweating, and lack of pain sensation from the first months of life. Insensitivity to pain and thermal stimuli had resulted in burns on the extremities and self-mutilation of the tongue, lips and fingertips. When he was five and seven years old respectively he had two painless fractures of the ankles which led to insoluble orthopedic problems. He also suffered from mental retardation, which was obvious from his first years of life. Sweat gland investigations showed significant hypohidrosis or anhidrosis although the sweat glands were normal microscopically. Hereditary sensory neuropathy type IV, although rare, is important for dermatologists because it must be differentiated from other anhidrotic syndromes, and in view of the poor prognosis of the condition.
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ranking = 1
keywords = anhidrotic
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22/66. Hypohidrotic ectodermal dysplasia: prenatal diagnosis by three-dimensional ultrasonography.

    ectodermal dysplasia is the term used to describe a group of rare congenital anomalies characterized by abnormal development of 1 or several ectoderm-derived tissues. At least 154 different types, divided into 11 clinical subgroups, have been recognized. Among them, the hypohidrotic type is the most common form, with an incidence of 1 per 10,000 to 1 per 100,000 live births. This condition, originally known as anhidrotic ectodermal dysplasia because of the notable reduction of sweat gland function, is clinically characterized by hypohidrosis, hypotrichosis, and hypodontia. Most cases are inherited as an X-linked recessive trait, with the gene responsible being mapped to Xq12-q13.1. The autosomal recessive and dominant patterns of inheritance have also been documented. prenatal diagnosis of this condition has been reported previously in high-risk pregnancies on the basis of histologic analysis of fetal skin obtained by second-trimester fetoscopy-guided skin biopsy. dna-based linkage analysis has also made the diagnosis possible with the use of chorionic villi in the first trimester. In this report, we describe noninvasive prenatal diagnosis of hypohidrotic ectodermal dysplasia in a pregnancy at risk for this condition. The diagnosis was achieved by identification of the distinct facial features at 30 weeks' gestation on three-dimensional (3D) ultrasonography.
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ranking = 44.543732894749
keywords = ectodermal dysplasia, anhidrotic ectodermal dysplasia, anhidrotic, dysplasia
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23/66. An infant with primary tooth loss and palmar hyperkeratosis: a novel mutation in the NTRK1 gene causing congenital insensitivity to pain with anhidrosis.

    patients with congenital insensitivity to pain and anhidrosis (CIPA), caused by mutations in the NTRK1 gene, can be difficult to diagnose because of their variable presentation, the lack of simple diagnostic tests, and the paucity of cases reported in north america. We describe a 1-year-old infant who had tooth loss and palmar hyperkeratosis as the primary manifestations of CIPA. He was initially evaluated by a pediatric dentist and epidermal dysplasia syndromes were considered, but insensitivity to pain was suspected after a skeletal survey revealed an unrecognized skull fracture. Nerve conduction studies were normal, as was his response to subdermal histamine injection. sequence analysis of his NTRK1 gene revealed 2 mutations: 1 mutation is novel, while the other has been described previously in a patient of northern European descent. An antibody directed against NTRK1 revealed persistent expression in keratinocytes, consistent with the mutations in this patient. skin biopsy specimens revealed a lack of epidermal and sweat gland innervation. immunohistochemistry of skin biopsy specimens, together with routine nerve conduction studies, can provide quick and reliable confirmation if CIPA is clinically suspected.
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ranking = 0.009478221876443
keywords = dysplasia
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24/66. Alternative rehabilitation treatment for a patient with ectodermal dysplasia.

    The ectodermal dysplasia constitutes a group of hereditary disorders whose clinical manifestations can be defects in ectodermal structures. The hypohidrotic and anihidrotic are commonly types of ectodermal dysplasia. The main characteristics are dental anomalies, hypotrichosis and hypohidrosis. The oral rehabilitation of this patients is important for better social living, self esteem and oral function. This paper had as objective to relate and discuss a case of anihidrotic ectodermal dysplasia, describing the positive influence of an alternative rehabilitation treatment.
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ranking = 46.454235378353
keywords = ectodermal dysplasia, dysplasia, defect
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25/66. Hypohidrotic ectodermal dysplasia: a review and case report.

    A case involving a 5-year-old girl with hypohidrotic ectodermal dysplasia is presented. A review of the disease and the treatment options for patients is discussed.
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ranking = 33.181595829991
keywords = ectodermal dysplasia, dysplasia
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26/66. A rare case of hypohidrotic ectodermal dysplasia caused by compound heterozygous mutations in the EDAR gene.

    Hypohidrotic ectodermal dysplasia (HED) is a genetic disease characterized by abnormal hair, teeth, and sweat gland development. Although most cases of HED display X-linked recessive inheritance, autosomal dominant and autosomal recessive forms also exist. X-linked HED is caused by mutations in the EDA gene, and the autosomal forms result from mutations in either the EDAR gene or the EDARADD gene. In this study, we identified compound heterozygous mutations in the EDAR gene in a Japanese female patient with HED. On the maternal allele is a novel splice donor site mutation of intron 2 leading to the generation of unstable transcripts with exon 2 skipping; on the paternal allele is a novel R375H transition within the death domain of EDAR. Using expression studies in tissue culture cells, we found that the R375H substitution in EDAR caused loss of its affinity for EDARADD and reduced activation of the downstream target NF-kappaB. Our findings indicate that both alleles of EDAR are non-functional in our patient, resulting in the HED phenotype.
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ranking = 33.181595829991
keywords = ectodermal dysplasia, dysplasia
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27/66. A point mutation of the ED1 gene in a Japanese family with X-linked hypohidrotic ectodermal dysplasia.

    X-linked hypohidrotic ectodermal dysplasia (EDA) is characterized by the hypoplasia or absence of hair, teeth and sweat glands. In this study, the authors investigated the ED1 gene in a Japanese family with X-linked hypohidrotic ectodermal dysplasia. The only affected male fulfils the diagnostic criteria for this disorder. His parents were not consanguineous and both of them were healthy. After informed consent, genomic dna was isolated from the peripheral blood lymphocytes or oral buccal epithelial cells of all members of the family. A polymerase chain reaction fragment containing exon 9 of the ED1 gene was amplified using primers. The patient's amplified fragment, as well as those from his father, mother and sister, were directly sequenced. The sequence from the patient revealed a point mutation (G1149A) in exon 8 of the ED1 gene, which changes codon 291 from glycine to arginine. Heterozygosity was demonstrated in his mother and sister. This mutation has not been reported previously. The amino acid substitution is predicted to disrupt the transmembrane domain, which strongly implies that this is the disease-causing mutation in the family.
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ranking = 39.817914995989
keywords = ectodermal dysplasia, dysplasia
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28/66. Three successive generations of women with anhidrotic/hypohidrotic ectodermal dysplasia.

    We describe the findings of anhidrotic/hypohidrotic ectodermal dysplasia in three successive generations of a family. All three women had variable alopecia, anhidrosis, hypodontia and malar hypoplasia. Chromosomal studies revealed a defect of the 2q12 region in all three patients. Previous studies have reported rare cases of autosomal dominant ectodermal dysplasia associated with defects in the 2q11-13 region1. These rare disorders are characterized by common anomalies of at least two elements of the ectoderm and its appendages--namely, the skin, teeth, hair, nails and sweat glands. These patients also frequently have chronic dental problems with early loss of teeth and recurrent lung, ear and nose infections secondary to a defect in mucous membrane function. The majority of reported cases of ectodermal dysplasias have historically been X-linked recessive, but our findings indicate that an autosomal version may be more prevalent than previously thought.
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ranking = 51.454237811086
keywords = ectodermal dysplasia, anhidrotic, dysplasia, defect
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29/66. Hypohidrotic ectodermal dysplasia with bilateral impacted teeth at the coronoid process: a case rehabilitated with mini dental implants.

    Bilateral migration of teeth into the coronoid process in a patient with ectodermal dysplasia has not been reported in the literature except one report in which severe hypodontia and bilaterally ectopic impacted teeth in the coronoid processes of a nonsyndromic patient occurred. This article presents a 15-year-old female with hypohidrotic ectodermal dysplasia who had surgical removal of bilaterally impacted teeth in the coronoid process and was rehabilitated with a dental implant-retained fixed prosthesis in the mandible and over-denture in the maxilla.
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ranking = 39.817914995989
keywords = ectodermal dysplasia, dysplasia
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30/66. Prosthetic rehabilitation of a child affected from anhydrotic ectodermal dysplasia: a case report.

    The aim of this clinical report is to describe the management of a young patient, affected by ectodermal dysplasia, during a nine-year period. Dental treatment can vary depending on the severity of the disease (tooth size, morphology, and amount of available alveolar bone). New technologies, such as adhesive dentistry, and new materials, such as composite resin, represent current options in the management of the dental rehabilitation of patients affected by ectodermal dysplasia. Removable partial dentures were used to replace congenitally missing teeth, and composite resin materials were used to restore conical-shaped maxillary teeth to achieve a favorable esthetic result. This option minimized the sacrifice of healthy dental tissue. Prosthodontic and restorative treatment was provided for the psychological and social comfort of the young patient.
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ranking = 39.817914995989
keywords = ectodermal dysplasia, dysplasia
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