JPMA. The Journal of the Pakistan Medical Association, 2023 Basaloid follicular hamartoma is a rare benign malformation of hair follicles, characterised clinically as generalised or localised multiple brown papules mostly on face, scalp and trunk.
Ushna Ashraf +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
doaj +2 more sources
Oral Rehabilitation in Patient With Hereditary Sensory and Autonomic Neuropathy (HSAN) Type V: Clinical Report [PDF]
Case Reports in DentistryHereditary sensory and autonomic neuropathies (HSANs) are rare inheritable syndromes of unknown etiology. They typically appear in early childhood and are categorized into six different types based on their symptoms.
Sana Lala, Ammar Almustafa
doaj +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
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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
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Cholinergic urticaria occurring in a man with hypohidrosis.
Nishi Nihon Hifuka, 1989 発汗異常を伴つた30才男子に発症したコリン性蕁麻疹の一例を報告した。運動負荷により全身に米粒大の膨疹が誘発され, アセチルコリンと高濃度食塩水の皮内注射にても膨疹を形成した。また, 全身と胸部の温熱負荷によるヨード·でんぷん発汗テストにおいてはほとんど発汗がみられない強い発汗抑制がみられた。
Kazunobu Otoyama +3 more
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Oral minoxidil treatment for hypotrichosis in Lelis syndrome [PDF]
JAAD Case ReportsIshan Bhanot, BS, BA +6 more
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Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome [PDF]
Definitions, 2020 Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by severe intellectual disability with significant speech and language impairment ...
INSERM
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Pansclerotic morphea associated with hypohidrosis and anti‐M3 muscarinic acetylcholine receptor antibodies [PDF]
British Journal of Dermatology, 2018 ファイル公開：2019-03-29journal ...
H. Fujita-Tanaka +7 more
semanticscholar +3 more sources