Revista da Sociedade Portuguesa de Dermatologia e Venereologia, 2021 Cholinergic urticaria is a relatively common condition defined by itching, redness and whealing induced by exercise and passive warming. In turn, acquired idiopathic generalized anhidrosis is a rare disorder of unknown pathogenesis, characterized by an ...
Cíntia Cruz +3 more
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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
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Novel compound heterozygous variants in the TSPEAR gene causing autosomal recessive hearing loss in a Chinese family. [PDF]
Pediatr InvestigPediatric Investigation, Volume 8, Issue 4, Page 313-315, December 2024.
Shi X, Liu X, Zhao Z, Zong Y, Sun Y.
europepmc +2 more sources
Genotype-Phenotype Spectrum of 52 Mexican Patients With Fabry Disease: A Novel GLA Variant With Atypical Phenotype. [PDF]
Mol Genet Genomic MedThe genotype and phenotype of Mexican patients with Fabry disease (FD) are similar to other populations. Atypical phenotype of FD, such as the one associated with the novel variant c.122C>G, can be a diagnostic challenge, as it can be mixed up with multiple sclerosis.
Kimball TN +5 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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Concurrence of Hyperhidrosis and Hypohidrosis in Ross Syndrome. [PDF]
Clin Med Res, 2023 Hamadeh G, Fares J.
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A case of cholinergic urticaria with localized hypohidrosis showing sweat gland eosinophilic infiltration [PDF]
Allergology International, 2017 Aya Iwasaki +6 more
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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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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
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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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