Results 61 to 70 of about 3,399 (216)
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
doaj +1 more source
Christ–Siemens–Touraine syndrome with palmoplantar keratoderma: A rare association
Indian Dermatology Online Journal, 2016 Christ–Siemens–Touraine syndrome is a form of anhidrotic ectodermal dysplasia (ED) characterized by triad of hypodontia, hypotrichosis, and hypohidrosis. Palmoplantar keratoderma is a characteristic feature of hidrotic forms of ED.
Sunil K Kothiwala +2 more
doaj +1 more source
Angiokeratoma of tongue:a series of 14 cases [PDF]
, 2006 Angiokeratomas (AC) are vascular lesions which are defined histologically as one or more dilated blood vessels lying directly subepidermal and showing an epidermal proliferative reaction with ectatic capillaries in the papillary dermis.
Ahmed, Rashid +7 more
core +1 more source
Female Fabry disease patients and X-chromosome inactivation [PDF]
, 2018 Fabry disease is an X-linked inherited lysosomal storage disorder caused by mutations in the gene encoding α- galactosidase A (GLA). Once it was thought to affect only hemizygous males.
Gabig-Cimińska, Magdalena +7 more
core +1 more source
Functional Characterisation of Alpha-Galactosidase A Mutations as a Basis for a New Classification System in Fabry Disease [PDF]
, 2013 This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.The study has been ...
Giese, A-K +10 more
core +3 more sources
Experimental Physiology, Volume 111, Issue 2, Page 403-425, 1 February 2026.Abstract The gastrointestinal (GI) microbiota and GI barrier integrity are hypothesised to contribute to exertional heat illness (EHI) aetiology. We compared the faecal microbiome, GI barrier integrity, inflammation and thermoregulation of 29 recent (∼4 months) EHI patients (a group with elevated EHI risk) and 29 control individuals without prior EHI ...
Alex A. M. Gould +13 more
wiley +1 more source
Kindler syndrome with palmoplantar hyperhidrosis and blonde hair
Indian Dermatology Online Journal, 2015 Kindler syndrome (KS) is a very rare genodermatosis characterized by acral blistering starting in infancy along with photosensitivity, progressive poikiloderma, cutaneous atrophy, and a variable degree of mucosal involvement.
Anshul Maheshwari +3 more
doaj +1 more source
Review of Biological Agents in the Therapeutic Management of Monogenic Genodermatoses
Dermatologic Therapy, Volume 2026, Issue 1, 2026.Monogenic genodermatoses encompass a diverse group of over 400 distinct disorders, presenting significant therapeutic challenges. Recent advancements in the clinical application of biological agents have heralded a new era in the management of these conditions.
Xueying Wang +4 more
wiley +1 more source
Presentation of hypohidrotic ectodermal dysplasia in two siblings
Journal of Indian Academy of Oral Medicine and Radiology, 2015 Ectodermal dysplasias are a large hereditary group of disorders which are usually manifested as X-linked recessive disorders and have a full expression in males, whereas females show little to no signs of the disorder.
Uday Ginjupally +3 more
doaj +1 more source
Hospitalizations from Hypertensive Diseases, Diabetes, and Arrhythmia in Relation to Low and High Temperatures: Population-Based Study. [PDF]
, 2016 Little is known about the extent to which ambient temperatures contribute to the burden of hospitalizations from hypertensive diseases, diabetes, and arrhythmia. To fill this knowledge gap, we conducted a time-series study comprising entire population of
Bai, Li +11 more
core +3 more sources