Results 11 to 20 of about 6,050 (216)

Congenital Insensitivity to Pain With Anhidrosis: First Reported Case in Nepal. [PDF]

Clin Case Rep
ABSTRACT Congenital insensitivity to pain with anhidrosis is a rare autosomal recessive disorder characterized by anhidrosis, self‐mutilation, and insensitivity to pain and temperature. While genetic testing confirms the diagnosis, it is not always feasible, making clinical recognition crucial in resource‐limited settings.
Pant S, Adhikari D, Pandey P, Bajracharya B, Sharma R.   +4 more
europepmc   +2 more sources

New Characteristics of Eccrine Sweat Glands in Acquired Idiopathic Generalised Anhidrosis as Determined via Three-Dimensional Fluorescence Imaging of Cleared Skin Tissue. [PDF]

Exp Dermatol
Experimental Dermatology, Volume 34, Issue 3, March 2025.
Yoshida S, Kawakami R, Niko Y, Fujisawa Y, Murakami M.   +4 more
europepmc   +2 more sources

Ulcerative Lesion of the Ileocecal Region in a Patient With Immunodeficiency. [PDF]

J Gastroenterol Hepatol
Journal of Gastroenterology and Hepatology, Volume 40, Issue 6, Page 1345-1347, June 2025.
Kinoshita N, Kakimoto K, Kaji E, Mizuta N, Numa K, Nakazawa K, Koshiba R, Hirata Y, Miyazaki T, Nakamura S, Nishikawa H.   +10 more
europepmc   +2 more sources

Plasma catecholamines during activation of the sympathetic nervous system in a patient with Shy-Drager syndrome. [PDF]

, 1980
Plasma catecholamines and circulation parameters were studied in a patient with a Shy-Drager syndrome. Basal values of free noradrenaline and dopamine were within the normal range, whereas the adrenaline level was decreased.
Gross, G., Krause, Klaus-Henning, Nagel-Hiemke, M.   +2 more
core   +1 more source

Clinical features for diagnosis and management of patients with PRDM12 congenital insensitivity to pain. [PDF]

, 2016
BACKGROUND: Congenital insensitivity to pain (CIP) is a rare extreme phenotype characterised by an inability to perceive pain present from birth due to lack of, or malfunction of, nociceptors.
Ahmed, Mushtaq, Bennett, Christopher, Chen, Ya-Chun, Sharif, Saghira Malik, Sheridan, Eamonn, Valente, Enza-Maria, Woods, Geoffrey, Zhang, Stella   +7 more
core   +3 more sources

Anhidrosis hemifrontal posquirúrgica

Revista Española de Anestesiología y Reanimación, 2014
El sindrome de Claude-Bernard-Horner, o paresia oculosimpatica, es un trastorno neurologico caracterizado por miosis, ptosis y anhidrosis. Puede ser el resultado de una lesion en cualquier punto a lo largo de la via simpatica originada en el hipotalamo (Anexo, ver material adicional online). Presentamos el caso de un paciente intervenido de un tumor de
G. Mariño Valiño, J. Fernández Rodríguez, C. Novoa del Valle, A. Cariñena Amigo, C. Sevillano Torrado   +4 more
openaire   +3 more sources

Asymmetric anhidrosis in MSA [PDF]

Neurology, 2003
Thermodysregulation with loss of sweating is a common feature of dysautonomia in multiple system atrophy (MSA).1,2⇓ A 51-year-old man with MSA with …
Carsten Saft, Th. Müller, Horst Przuntek, J. Andrich, Markus Stücker   +4 more
openaire   +3 more sources

Cutaneous manifestations of Fabry disease: A systematic review. [PDF]

J Dermatol
Abstract Fabry disease (FD) is a rare X‐linked lysosomal storage disorder resulting in potential debilitating accumulation of glycosphingolipids in organs such as skin, nerves, heart, kidneys, lungs, and the central nervous system. Skin is easily investigated and can guide clinicians to diagnose FD, minimizing delay of enzyme substitution therapy. This
Al-Chaer RN, Folkmann M, Mårtensson NL, Feldt-Rasmussen U, Mogensen M.   +4 more
europepmc   +2 more sources

Speech-language findings on pain congenital insensitivity with anhydrosis: case report [PDF]

, 2007
PURPOSE: case report of congenital insensitivity to pain with anhydrosis of a 3-year-old child as well as discussing the speech-language findings, in relation to the aspects of the stomatognathic system, highlighting the process of rehabilitation for ...
Chiappetta, Ana Lúcia de Magalhães Leal, Roza, Rosemere Teixeira   +1 more
core   +3 more sources

Chest Discomfort, Left Ventricular Hypertrophy, Global T-Wave Inversion, and Short PR Interval Points to a Particular Cardiac Condition. What Could Be the Diagnosis? [PDF]

Ann Noninvasive Electrocardiol
The co‐occurrence of short PR interval and left ventricular hypertrophy may indicate conditions such as Fabry disease, Danon disease, PRKAG2 mutation cardiomyopathy, Pompe disease, or mitochondrial disorders. This patient presents with symptoms of anhidrosis and chest discomfort. We identified one heterozygous mutation in exon 5 of GLA.
Li JX, Di XX, Gao M, Li XQ, Wang YL, Zheng J.   +5 more
europepmc   +2 more sources