Oral minoxidil treatment for hypotrichosis in Lelis syndrome [PDF]
JAAD Case ReportsIshan Bhanot, BS, BA +6 more
doaj +2 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]
Annals of Noninvasive ElectrocardiologyThis article describes a 44‐year‐old female with Fabry disease presenting with a 7‐year history of chest discomfort, extremity pain, and hypohidrosis.
Jing‐Xiu Li +5 more
doaj +2 more sources
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
Clinical and histological characterization of transient dermal pain triggered by sweating stimuli
Allergology International, 2022 Background: Tingling dermal pain triggered by sweating impairs the lives of patients with cholinergic urticaria and generalized anhidrosis. However, dermal pain evoked by sweating stimuli has been under investigated.
Shunsuke Takahagi +7 more
doaj +1 more source
Hereditary Sensory and Autonomic Neuropathy V: A Case Report [PDF]
Journal of Clinical and Diagnostic Research, 2023 Hereditary Sensory and Autonomic Neuropathy (HSAN) are a group of rare inherited disorders that comprises a varied set of disorders which mainly present with sensory dysfunction and deficits in autonomic functions, along with other associated ...
GK Pallavi Urs +3 more
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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
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
European Journal of Medical Research, 2023 Background Drug repurposing refers to the application of existing drugs to new therapeutic indications. As phenotypic indicators of human drug response, drug side effects may provide direct signals and unique opportunities for drug repurposing ...
Yi Liu +6 more
doaj +1 more source
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
Hereditary Hypohidrotic Ectodermal Dysplasia: Report of a Rare Case [PDF]
Journal of Clinical and Diagnostic Research, 2013 Hereditary Hypohidrotic Ectodermal Dysplasia (HHED), an X-linked, recessive, Mendelian character, is seen usually in males and it is inherited through female carriers.
Geetha Paramkusam +3 more
doaj +1 more source