Results 31 to 40 of about 3,538 (198)
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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PD-L1-Inhibitor-Associated Hidradenitis Suppurativa. [PDF]
J Cutan PatholJournal of Cutaneous Pathology, Volume 53, Issue 9, Page 759-761, September 2026.
Jin A, Steele KT, Chu EY.
europepmc +2 more sources
Raising awareness through a case of recurrent fractures in a child with congenital insensitivity to pain and anhidrosis in Saudi Arabia [PDF]
The Ewha Medical JournalPatients with congenital insensitivity to pain and anhidrosis (CIPA) exhibit an inability to perceive pain, recurrent fractures, self-mutilation, and impaired thermoregulation, which lead to severe complications and high morbidity.
Amaal Aldosari +4 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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Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
Definitions, 2020 Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by severe intellectual disability with significant speech and language impairment ...
semanticscholar +1 more source
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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