Results 51 to 60 of about 2,305 (172)

Ectodermal Dysplasia: Report and Analysis of Eleven South Indian Patients with Review of Literature

Journal of Indian Academy of Oral Medicine and Radiology, 2010
Ectodermal dysplasia represents a rare syndrome affecting two or more ectodermally derived structures. The condition is thought to occur in approximately 1 in every 100,000 live births.
Renuka Ammanagi, Vaishali Keluskar, Anjana Bagewadi   +2 more
doaj  

Cholinergic urticaria occurring in a man with hypohidrosis.

Nishi Nihon Hifuka, 1989
発汗異常を伴つた30才男子に発症したコリン性蕁麻疹の一例を報告した。運動負荷により全身に米粒大の膨疹が誘発され, アセチルコリンと高濃度食塩水の皮内注射にても膨疹を形成した。また, 全身と胸部の温熱負荷によるヨード·でんぷん発汗テストにおいてはほとんど発汗がみられない強い発汗抑制がみられた。
OTOYAMA, Kazunobu, HORIUCHI, Yasuhiro, SAKAKIBARA, Ryuji, FUKUTAKE, Toshio   +3 more
openaire   +1 more source

PD‐L1‐Inhibitor‐Associated Hidradenitis Suppurativa

Journal of Cutaneous Pathology, Volume 53, Issue 9, Page 759-761, September 2026.
Annie Jin, Katherine T. Steele, Emily Y. Chu   +2 more
wiley   +1 more source

Topiramate associated hypohidrosis and hyperthermia.

Indian pediatrics, 2008
PubMedID ...
Incecik F., Hergüner M.O., Altunbasak S.   +2 more
openaire   +2 more sources

Genotypes and Phenotypes of Patients With TSPEAR‐Related Disorder: Evidence of a Predominant Dental Phenotype

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, Lucia Tiberi, Annarita Giliberti, Elia Dirupo, Laila Zaroili, Francesco Brancati, Michela Brena, Stefano Caraffi, Chiara De Luca, Livia Garavelli, Anna Virginia Gulino, Milena Mariani, Marzia Pollazzon, Angelo Selicorni, Samuela Landini, Ilaria Sani, Rosangela Artuso, Angela Peron   +17 more
wiley   +1 more source

Laser therapy: palliative care for the Harlequin syndrome? [PDF]

Einstein (São Paulo)
Harlequin syndrome is a rare condition characterized by facial dysautonomia with anhidrosis, hemifacial blush, and other nonfacial manifestations without conventional treatment.
Felipe Otávio Saraiva França, Guilherme Albuquerque Nicolau, Mariana Machado Lima, Rodrigo Otávio Gama França, Vania Flavia Siqueira Saraiva   +4 more
doaj   +2 more sources

Decreased Myocardial 123I‐MIBG Uptake Without Sympathetic Denervation: An Autopsy Report of Autoimmune Autonomic Ganglionopathy

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, Kenya Nishioka, Yuta Ishiguro, Tsuyoshi Furuya, Takashi Ogawa, Kazunori Kajino, Yoshiaki Furukawa, Nobutaka Hattori   +7 more
wiley   +1 more source

Idiopathic generalized anhidrosis with absence of sweat glands: A case report and literature review

Dermatologica Sinica, 2018
Idiopathic generalized anhidrosis is a rare disease characterized by sweating impairment despite exposure to heat or exercise. It could be congenital or acquired. We reported a 22-year-old male with generalized anhidrosis, except axillae, forehead, palms
Chih-Ting Chen, Ding-Dar Lee
doaj   +1 more source

Early Oral Rehabilitation of a Pediatric Patient With Hypohidrotic Ectodermal Dysplasia: A Case Report from Afghanistan

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, Hedayatullah Ehsan, Fatima Sapai, Mohammad Bashir Nejabi, Ahmad Anas Khairzad, Nematullah Sharifi   +5 more
wiley   +1 more source

Fabry's disease manifesting as familial angiokeratoma corporis diffusum in an indian family – A rare occurrence!

Indian Journal of Paediatric Dermatology, 2020
Fabry's disease is a rare X-linked dermatosis, resulting from alpha-galactosidase deficiency and presents with both cutaneous (angiokeratoma, acral paresthesia, and hypohidrosis) and extracutaneous manifestations (ocular, cardiac, renal, and neurological)
Ishmeet Kaur, Archana Singal, Deepak Jakhar, Deepika Pandhi   +3 more
doaj   +1 more source