Results 31 to 40 of about 2,305 (172)
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
doaj +1 more source
Segmental Pallor and Hair Loss in a Patient With Ross Syndrome: Case Report
The Journal of Dermatology, EarlyView.ABSTRACT A 30‐year‐old male sought medical consultation due to sudden anisocoria. Clinical examination confirmed Adie's tonic pupil. Subsequently, the presence of segmental anhidrosis with compensatory hyperhidrosis and areflexia established the diagnosis of Ross syndrome.
Markus Augusto Martínez Holst +5 more
wiley +1 more source
Pathophysiology and emerging treatments for dermographic, cholinergic and cold urticaria
Journal of the European Academy of Dermatology and Venereology, EarlyView.This review illustrates key proposed mast cell‐mediated activation pathways in dermographic, cholinergic and cold urticaria, highlighting IgE‐dependent and ‐independent mechanisms. These pathways are increasingly targeted by emerging drugs, aiming to interrupt mast cell activation and mediator release, offering more precise, mechanism‐based treatment ...
Mojca Bizjak‐Suran +2 more
wiley +1 more source
Symptomatic and asymptomatic hypohidrosis in children under topiramate treatment
The Turkish Journal of Pediatrics, 2005 Topiramate (TPM) has peculiar side effects such as speech difficulties, weight loss, oligohidrosis and hyperthermia. We present the frequency and severity of hypohidrosis in our patients under TPM treatment.
Kutluhan Yilmaz +5 more
doaj
Journal of the Peripheral Nervous System, Volume 31, Issue 3, September 2026.ABSTRACT Background and Aims Gain‐of‐function variants in SCN9A, encoding the Nav1.7 sodium channel, cause inherited painful neuropathic disorders. We report a young man with severe childhood‐onset heat‐triggered paroxysmal pain, autonomic dysfunction, skeletal abnormalities, and a de novo SCN9A p.Ile234Thr variant, emphasizing the diagnostic and ...
Pedro Jose Tomaselli +7 more
wiley +1 more source
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
Arthritis Care &Research, Volume 78, Issue 7, Page 860-874, July 2026.Objective Sjögren's disease is an autoimmune disorder that can impact multiple organ systems, including the peripheral nervous system (PNS). PNS manifestations, which can exist concurrently, include mononeuropathies, polyneuropathies, and autonomic nervous system neuropathies.
Anahita Deboo +88 more
wiley +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