Results 41 to 50 of about 2,281 (168)
Hypohidrotic Ectodermal Dysplasia [PDF]
Journal of Clinical and Diagnostic Research, 2021 Chiranjit Ghosh +2 more
doaj +1 more source
Naegeli-Franceschetti-Jadassohn syndrome: A rare case
Indian Dermatology Online Journal, 2015 Naegeli-Franceschetti-Jadassohn Syndrome (NFJS) is a rare, autosomal dominant inherited form of ectodermal dysplasia, caused by mutation in the KRT14 gene.
Bela J Shah +3 more
doaj +1 more source
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
American Journal of Medical Genetics Part A, Volume 200, Issue 4, Page 790-799, April 2026.ABSTRACT TSPEAR (chr. 21q22.3) encodes a protein involved in tooth development and is predominantly expressed in the enamel knot. Biallelic loss of function variants in TSPEAR cause ectodermal dysplasia, tooth agenesis and sensorineural hearing loss. However, the role of TSPEAR in auditory processes is unclear.
Debora Vergani +17 more
wiley +1 more source
Brain and Behavior, Volume 16, Issue 4, April 2026.Autopsy findings in autoimmune autonomic ganglionopathy (AAG) revealed preserved thoracic sympathetic ganglia, intact cardiac sympathetic fibers, and preserved enteric plexuses, providing pathological support for AAG as a channelopathy. Abstract Introduction Autoimmune autonomic ganglionopathy (AAG) is a rare disorder characterized by widespread ...
Daisuke Taniguchi +7 more
wiley +1 more source
Clinical Case Reports, Volume 14, Issue 4, April 2026.ABSTRACT Hypohidrotic ectodermal dysplasia (HED) is a rare congenital disorder characterized by abnormal development of ectodermal structures including hair, teeth, nails, and sweat glands. Dental manifestations such as anodontia or hypodontia can significantly impair mastication, speech development, facial esthetics, and psychosocial well‐being ...
Nazera Ahmadzai +5 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
Ipsilateral hypohidrosis in brain stem infarction. [PDF]
Stroke, 1993 The brain stem is the most important autonomic processing center, but very little attention has been given to clinical manifestations of autonomic failure in brain stem stroke. Our purpose was to evaluate the prevalence, characteristics, and prognostic significance of sweating dysfunction in brain stem infarctions.
J T, Korpelainen +2 more
openaire +2 more sources
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