Propylthiouracil-induced Alopecia Accompanying Hypohidrosis and Onychomadesis
Acta Dermato-Venereologica, 2022 is missing (Short communication)
Nozomi Yanagida +3 more
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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
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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 +5 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
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Novel Compound Heterozygous Variants in the COG5 Gene Causing Fetal Hydrops and Skeletal Dysplasia. [PDF]
Mol Genet Genomic MedTwo affected fetuses in a COG5‐CDG family exhibited fetal hydrops and skeletal malformations, which were found to segregate with the paternal frameshift variant c.1972del and the maternal splice‐site variant c.2168_2168+4delinsCATAAAA in the COG5 gene.
Yang Q +8 more
europepmc +2 more sources
Type 2 Lepra Reaction Following Antituberculosis Treatment Initiation in an Elderly Male With Coexisting Hansen's Disease: A Case Report. [PDF]
Respirol Case RepWe report a case of a man developing erythema nodosum leprosum after initiating treatment for drug‐susceptible pulmonary tuberculosis. This highlights the importance of recognising concomitant leprosy in patients with tuberculosis since these mycobacterial infections require different long‐term multidrug regimens.
Villanueva CAG +3 more
europepmc +2 more sources
De Novo Missense Variant in TP63 Gene: Insights on Clinical and Molecular Investigations. [PDF]
J Gene MedWe report a heterozygous missense variant (c.184G〉C, p.Val62Leu) in exon 2 of the TP63 gene in a male patient with ectodermal dysplasia characterized by hypohidrosis, sparse hair, tooth agenesis, cleft lip/palate, hearing loss, and syndactyly. The variant was absent from public databases and unaffected relatives.
Chen J, Xi X, Xu X, Lin Y.
europepmc +2 more sources
A novel MBTPS2 missense variant identifying keratosis follicularis spinulosa decalvans in a case of neonatal erythroderma. [PDF]
J Dtsch Dermatol GesJDDG: Journal der Deutschen Dermatologischen Gesellschaft, Volume 24, Issue 3, Page 392-396, March 2026.
Cuperus E +7 more
europepmc +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
Clinical heterogeneity in Fabry disease: A clinical case [PDF]
Ķazaķstannyṇ Klinikalyķ Medicinasy, 2023 Fabry disease is an orphan lysosomal storage disease characterized by progressive organ damage. Considering that the disease is rare, the low awareness of doctors about this pathology leads to late diagnosis of the disease and untimely pathogenetic ...
Assel Issabekova, Olga Mashkunova
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