Results 21 to 30 of about 2,305 (172)
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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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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Revista da Sociedade Portuguesa de Dermatologia e Venereologia, 2021 Cholinergic urticaria is a relatively common condition defined by itching, redness and whealing induced by exercise and passive warming. In turn, acquired idiopathic generalized anhidrosis is a rare disorder of unknown pathogenesis, characterized by an ...
Cíntia Cruz +3 more
doaj +1 more source
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
doaj +1 more source
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
doaj +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
doaj +1 more source
A Case of Horner Syndrome with Hypohidrosis
Nishi Nihon Hifuka, 2005 59歳の女性。初診の1年前から出現した右顔面，頚部の発汗低下を主訴に当科を受診した。縮瞳，眼瞼下垂を認め，発汗試験により顔面，頚部の右半分に無汗部分が見られた。頭部MRI，MRangiography，頚部MRI，CTにて明らかな異常は認められなかったが，瞳孔点眼試験の結果と合わせて，節前障害によるHorner症候群と診断した。原因は不明であった。本症候群は各科領域より過去10年間で213例の報告があるが，皮膚科領域では，後天性の症例としては最初の報告である。
ANNEN, Miyuki +2 more
openaire +1 more source
Movement Disorders Clinical Practice, EarlyView.Abstract Background Non‐motor symptoms, especially autonomic dysfunction, are major contributors to disability and decreased quality of life in Parkinson's disease (PD). Despite being common and having a wide range of clinical facets, exocrine gland dysfunction is still not well recognized and managed.
Renato P. Munhoz +2 more
wiley +1 more source