Results 21 to 30 of about 1,964 (150)
Molecular Genetics & Genomic Medicine, 2021 Background Congenital disorders of glycosylation (CDG) are a genetically heterogeneous group of disorders caused by defects in the synthesis and processing of glycoproteins.
Peiwei Zhao +7 more
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Ross syndrome: A case report and review of cases from India
Indian Journal of Dermatology, 2016 Ross syndrome is a rare dysautonomia characterized by a clinical complex of segmental anhidrosis or hypohidrosis, areflexia, and tonic pupils. A very few cases (≃50) have been reported in literature since its original description in 1958. Here, we report
Manoj Kumar Agarwala +3 more
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Clinical and histological characterization of transient dermal pain triggered by sweating stimuli
Allergology International, 2022 Background: Tingling dermal pain triggered by sweating impairs the lives of patients with cholinergic urticaria and generalized anhidrosis. However, dermal pain evoked by sweating stimuli has been under investigated.
Shunsuke Takahagi +7 more
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Hypohydrotic ectodermal dysplasia: A rare case series
Journal of Pediatric Critical Care, 2018 Hypohydrotic ectodermal dysplasia (HED) is characterized by classical triad of Hypotrichosis (sparseness of scalp and body hair), anhidrosis/hypohidrosis (absence or reduction of sweat glands), and hypodontia/ anodontia (congenital absence of teeth). The
Manisha Goyal +3 more
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Recreating the missing smile: A case report on ectodermal dysplasia
SRM Journal of Research in Dental Sciences, 2012 Ectodermal dysplasia syndrome is a group of hereditary disorders affecting the structures developing from the ectoderm. More than 150 different types have been described with the most common being the hypohidrotic and the hidrotic types.
R Shakila +3 more
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Pathogenesis of Cholinergic Urticaria in Relation to Sweating
Allergology International, 2012 Cholinergic urticaria (CU) has clinically characteristic features, and has been frequently described in the literature. However, despite its comparatively old history, the pathogenesis and classification remains to be clarified.
Toshinori Bito +2 more
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Ectodermal dysplasia - A rare case report
Journal of Family Medicine and Primary Care, 2019 Ectodermal dysplasia (ED) is a rare genetic disease caused by developmental disturbances of embryonic ectoderm derived tissues, organs, and other accessory appendages. The congenital missing of teeth is usually bilateral.
Poulomi Bhakta +3 more
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Allergology International, 2011 We report four adult cases of atopic dermatitis (AD) complicated by Sjogren's syndrome (SS). The patients fulfilled diagnostic criteria for AD and SS.
Shun Kitaba +7 more
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Česká Stomatologie a Praktické Zubní Lékařství, 2013 Background: Ectodermal dysplasia is a rare, genetically determined disease, which is characterized by alterations in two or more ectodermal structures, at least one of these involving alterations in hair, teeth, nails, or sweat glands.
L. Kramerová, E. Kaplová
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Ectodermal Dysplasia: A Review
Makara Journal of Health Research, 2021 Background: Ectodermal dysplasia is a complex group of genetic disorders identified through the abnormal development of ectodermal structures. It is a genetic disorder that affects the development or functions of tissues such as the teeth, hair, nails ...
Yasemin Yavuz +2 more
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