X-Linked Anhidrotic Ectodermal Dysplasia in A 19-Year-Old Male: A Classic Phenotype. [PDF]
Clin Case RepABSTRACT X‐linked anhidrotic/hypohidrotic ectodermal dysplasia (XLHED), also known as Christ‐Siemens‐Touraine syndrome, is a rare genetic disorder characterized by the abnormal development of ectodermal structures, primarily affecting sweat glands, hair, and teeth. It results from mutations in the Ectodysplasin A (EDA) gene.
Chapagain L +4 more
europepmc +2 more sources
Risk of Death, Infections, and Hyperthermia in Ectodermal Dysplasias: A Nationwide Study [PDF]
Acta Dermato-VenereologicaThis nationwide population-based study investigated the risk of death, infections, and hyperthermia in Danish patients with ectodermal dysplasia (ED). A validated cohort of ED patients (n = 396) and matched population comparators (n = 3960) was compared ...
Laura Krogh Herlin +3 more
doaj +2 more sources
Thermoregulatory Dysfunction in Parkinson’s Disease: Mechanisms, Implications, and Therapeutic Perspectives [PDF]
CellsThermoregulatory dysfunction—temperature intolerance and/or inappropriate compensation—is an underrecognized feature of Parkinson’s disease (PD) and is linked to poor quality of life.
Zechariah S. Pressnell +4 more
doaj +2 more sources
Hypohidrosis Related to the Administration of Topiramate to Children [PDF]
Epilepsia, 2001 Summary: Purpose: Topiramate (TPM) is an antiepileptic agent, first licensed in the United Kingdom in 1994, that is used in the treatment of patients with refractory seizure disorders. TPM is a monosaccharide d‐fructose derivate, with sulfamate function, and so far, few adverse side effects have been reported.Methods: We describe three patients with ...
T Ferrer
exaly +3 more sources
Propylthiouracil-induced Alopecia Accompanying Hypohidrosis and Onychomadesis
Acta Dermato-Venereologica, 2022 is missing (Short communication)
Nozomi Yanagida +3 more
doaj +3 more sources
Hypohidrosis or hyperhidrosis? Ross syndrome
Dermatologica Sinica, 2016 Ross syndrome is a rare clinical disorder of sweating associated with areflexia and tonic pupil. The most disturbing symptoms are segmental compensatory hyperhidrosis and heat intolerance.
Didem Mullaaziz +2 more
doaj +2 more sources
First case of congenital idiopathic hypohidrosis in China [PDF]
Anais Brasileiros de Dermatologia, 2015 A 43-year-old Chinese man presented with generalized hypohidrosis, which he had had since birth, without obvious abnormalities of other skin appendages except a sparse beard and axillary hairs.
Ge Shi +4 more
doaj +3 more sources
Bilateral avascular necrosis: A rare complication of Fabry disease [PDF]
Molecular Genetics and Metabolism ReportsFabry disease is a rare X-linked lysosomal storage disorder caused by pathogenic variants in the GLA gene, which encodes for the α–galactosidase A enzyme responsible for degrading globotriaosylceramide.
Candela Romano +3 more
doaj +2 more sources
Efficacy and Safety of Zonisamide Addition in Children With Developmental Epileptic Encephalopathy/Epileptic Encephalopathy: A Real-World Study. [PDF]
CNS Neurosci TherAdjunctive zonisamide provides sustained efficacy and favorable tolerability in children with DEE/EE, including young children < 6 years and highly drug‐resistant cases. Gender and prior treatment history predict long‐term efficacy, supporting its reliable risk–benefit profile for refractory epilepsy.
Liu P +5 more
europepmc +2 more sources
Hypohidrosis and hyperthermia during topiramate treatment in children
The Turkish Journal of Pediatrics, 2012 Topiramate is one of the newer generation antiepileptic drugs with a beneficial clinical effect on various seizure types. In this study, we present the clinical findings of hypohidrosis and hyperthermia with topiramate in pediatric patients.
Faruk Incecik +2 more
doaj +3 more sources