Results 51 to 60 of about 3,538 (198)

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, Mahesh Prajapat, C M Kuldeep   +2 more
doaj   +1 more source

Boy in the Barrel: Excruciating Paroxysmal Pain Disorder Associated With an SCN9A Gain‐of‐Function Variant

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, Rodrigo Siqueira Soares Frezatti, Christopher J. Record, Maria Cristina Lopes Schiavoni, Natalia Dominik, Jana Vandrovcova, Mary M. Reilly, Wilson Marques Jr   +7 more
wiley   +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, K A, Sotaniemi, V V, Myllylä   +2 more
openaire   +2 more sources

Clinical Practice Guideline for Evaluation and Management of Peripheral Nervous System Manifestations in Sjögren's Disease

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, Robert Fox, Katherine M. Hammitt, Julie Frantsve‐Hawley, Matthew C. Baker, Stamatina Danielides, Eduardo De Sousa, Brent P. Goodman, Jennifer K. King, Steven Mandel, Ghaith Noaiseh, Pantelis P. Pavlakis, George Sarka, R. Hal Scofield, Arun Varadhachary, Daniel J. Wallace, Matt Makara, Nancy Carteron, Steven Carsons, in collaboration with the Consensus Expert Panel (CEP) members, G. Alden Adkins, Brittany Adler, Hossein Ansari, Senada Arabelovic, Alan Baer, Denis Balaban, Shamik Bhattacharyya, Evelyn Bromet, Krishna Chaganti, Kamal Chemali, Melissa Cortez, Schartess Culpepper, Paul Dellaripa, Dana Direnzo, Daniel El Bogdadi, Robert Fearon, Mehrnez Fischbach, Judi Furlong, Christopher Gibbons, Rachael Gordon, Thomas Grader Beck, Syed Haider, Larry Hollenbeck, Chadwick R. Johr, Stuart S. Kassan, Brian King, Octavia Kincaid, Eugene Kissin, Vasileios Kyttaris, Lindsay Lally, Brandon M. Law, Janet Lewis, Scott M. Lieberman, Amanda Lusa, Joseph Lutt, Rashmi Maganti, Arthur M. Mandelin, Sara McCoy, Kerry Neall, Timothy Niewold, Anne Louise Oaklander, Ruben A. Peredo‐Wende, Lynn Petruzzi, Mark A. Porter, Guada Respicio Duque, Tania Reyna, Nathaniel M. Robbins, Elliot D. Rosenstein, Laura Rosow, Breanna Ruthrauff, Amit Sachdev, Nora Sandorfi, Sarah Schafer, Elena Schiopu, Chokkalingam Siva, Daniel Small, Sara M. Stern, Lauren Stiles, Susan Stoddard, Jinny Tavee, Donald Thomas, Edward L. Treadwell, Nagagopal Venna, Steven Vernino, Frederick B. Vivino, Brittany Weber, Sepideh Yadollahi, Huiying Yu, Scott Zashin   +88 more
wiley   +1 more source

Tri‐Parametric Assessment of α‐Galactosidase A Activity, lysoGb3 and X‐Inactivation Aids Genotype‐Phenotype Categorization of Fabry Disease Female Patients

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT Fabry disease (FD, OMIM 301500) is an X‐linked lysosomal storage disorder caused by deficient activity of lysosomal alpha‐galactosidase A (AGAL, E.C. 3.2.1.22) due to pathogenic variants in the GLA gene (HGNC:4296, Xq22.1). Plasmatic deacylated globotriaosylceramide (lysoGb3) is elevated in FD patients as a reflection of lysosomal accumulation
Ladislav Kuchar, Lenka Dvorakova, Linda Berna, Martin Reboun, Petra Slavikova, Radovan Bakalar, Jana Ledvinova, Helena Poupetova, Petr Ruzicka, Asfaw Befekadu, Gabriela Dostalova, Stella Reichmannova, Ales Linhart, Jakub Sikora   +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, Daulat Ram Dhaked, Deepak K Mathur, Puneet Bhargava   +3 more
doaj   +1 more source

Skin Ultrastructural Findings in Acquired Generalized Hypohidrosis/Anhidrosis in a Patient with Subclinical Sjögren Syndrome.

Acta Dermato-Venereologica, 2017
Sjögren’s syndrome (SS) is an autoimmune disorder characterized by exocrine dysfunction, such as xero­ phthalmia or xerostomia, focal lymphocytic sialoadenitis, and a high titre of autoantibodies inclusive of anti­Ro and anti­La.
Yu-Jen Huang, Pei-Ling Chih, Tzu-Hung Huang, H.-S. Yu, Y. Hsieh, Sebastian Yu   +5 more
semanticscholar   +1 more source

Impact of Thyroid Transcription Factor‐1 Expression on Outcomes of Platinum‐Based Chemoimmunotherapy in Advanced or Recurrent Non‐Squamous Non‐Small Cell Lung Cancer

Thoracic Cancer, Volume 17, Issue 13, July 2026.
Among thyroid transcription factor‐1 (TTF‐1) negative non‐squamous (non‐sq) NSCLC patients, platinum and pemetrexed plus pembrolizumab showed comparable and preferable efficacy in terms of progression‐free survival and overall survival to that observed in TTF‐1‐positive patients.
Ryohei Kamada, Hiroshi Yokouchi, Shohei Mizobuchi, Ken Kuwahara, Yasushi Mizukami, Hidenori Mizugaki, Noriyuki Yamada, Hajime Asahina, Hirofumi Adachi, Yoshihiro Matsuno, Satoshi Oizumi   +10 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, Balaji Babu Bangi, Lavanya Gadapa, Pooja Madki   +3 more
doaj   +1 more source

Ankyloblepharon‐ectodermal defects‐cleft lip/palate syndrome: a case report highlighting the importance of clinical diagnosis in a rare hereditary disorder

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, EarlyView.
Aikaterini Kyriakou, Parthena Meltzanidou, Anthoula Chatzikyriakidou, Despoina Pelagidou, Antonios Fantakis, Athina‐Ioanna Daponte, Aikaterini Patsatsi, Elizabeth Lazaridou   +7 more
wiley   +1 more source