Results 21 to 30 of about 2,281 (168)
Concurrence of Hyperhidrosis and Hypohidrosis in Ross Syndrome
Clinical Medicine & Research, 2023 Ross Syndrome is a rare disorder characterized by tonic pupils, hyporeflexia, and abnormal segmental sweating. The pathophysiology of the disease remains unclear, with either hypohidrosis or hyperhidrosis reported in individual patients. We present the case of a man, aged 57 years, who presented with hyperhidrosis in his right extremities, anhidrosis ...
Gracia, Hamadeh, Jawad, Fares
openaire +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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Molecular Genetics & Genomic Medicine, 2021 Background Congenital disorders of glycosylation (CDG) are a genetically heterogeneous group of disorders caused by defects in the synthesis and processing of glycoproteins.
Peiwei Zhao +7 more
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Ross syndrome: A case report and review of cases from India
Indian Journal of Dermatology, 2016 Ross syndrome is a rare dysautonomia characterized by a clinical complex of segmental anhidrosis or hypohidrosis, areflexia, and tonic pupils. A very few cases (≃50) have been reported in literature since its original description in 1958. Here, we report
Manoj Kumar Agarwala +3 more
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Raising awareness through a case of recurrent fractures in a child with congenital insensitivity to pain and anhidrosis in Saudi Arabia [PDF]
The Ewha Medical JournalPatients with congenital insensitivity to pain and anhidrosis (CIPA) exhibit an inability to perceive pain, recurrent fractures, self-mutilation, and impaired thermoregulation, which lead to severe complications and high morbidity.
Amaal Aldosari +4 more
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Hypohydrotic ectodermal dysplasia: A rare case series
Journal of Pediatric Critical Care, 2018 Hypohydrotic ectodermal dysplasia (HED) is characterized by classical triad of Hypotrichosis (sparseness of scalp and body hair), anhidrosis/hypohidrosis (absence or reduction of sweat glands), and hypodontia/ anodontia (congenital absence of teeth). The
Manisha Goyal +3 more
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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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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
Recreating the missing smile: A case report on ectodermal dysplasia
SRM Journal of Research in Dental Sciences, 2012 Ectodermal dysplasia syndrome is a group of hereditary disorders affecting the structures developing from the ectoderm. More than 150 different types have been described with the most common being the hypohidrotic and the hidrotic types.
R Shakila +3 more
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Pathogenesis of Cholinergic Urticaria in Relation to Sweating
Allergology International, 2012 Cholinergic urticaria (CU) has clinically characteristic features, and has been frequently described in the literature. However, despite its comparatively old history, the pathogenesis and classification remains to be clarified.
Toshinori Bito +2 more
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