X‐Linked Anhidrotic Ectodermal Dysplasia in A 19‐Year‐Old Male: A Classic Phenotype
Clinical Case ReportsX‐linked anhidrotic/hypohidrotic ectodermal dysplasia (XLHED), also known as Christ‐Siemens‐Touraine syndrome, is a rare genetic disorder characterized by the abnormal development of ectodermal structures, primarily affecting sweat glands, hair, and ...
Laxman Chapagain +4 more
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Congenital insensitivity to pain with anhidrosis and compensatory hyperhidrosis
Indian Journal of Paediatric Dermatology, 2021 Hereditary sensory and autonomic neuropathy is a rare syndrome characterized by congenital insensitivity to pain, temperature changes, and an autonomic nerve formation disorder. We report an 8-year-old boy who presented with late-onset of self-mutilating
Aradhana Rout +3 more
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Plasma catecholamines during activation of the sympathetic nervous system in a patient with Shy-Drager syndrome. [PDF]
, 1980 Plasma catecholamines and circulation parameters were studied in a patient with a Shy-Drager syndrome. Basal values of free noradrenaline and dopamine were within the normal range, whereas the adrenaline level was decreased.
Gross, G. +2 more
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Idiopathic generalized anhidrosis with absence of sweat glands: A case report and literature review
Dermatologica Sinica, 2018 Idiopathic generalized anhidrosis is a rare disease characterized by sweating impairment despite exposure to heat or exercise. It could be congenital or acquired. We reported a 22-year-old male with generalized anhidrosis, except axillae, forehead, palms
Chih-Ting Chen, Ding-Dar Lee
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The structure of latherin, a surfactant allergen protein from horse sweat and saliva [PDF]
, 2013 Latherin is a highly surface-active allergen protein found in the sweat and saliva of horses and other equids. Its surfactant activity is intrinsic to the protein in its native form, and is manifest without associated lipids or glycosylation.
Alan Cooper +6 more
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Poikiloderma with novel gene mutation
Indian Journal of Paediatric Dermatology, 2020 Poikiloderma is characterized by mottled pigmentation, telangiectasia, and epidermal atrophy. It is a common cutaneous finding in a number of genodermatoses.
Sunanda Mahajan +3 more
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Speech-language findings on pain congenital insensitivity with anhydrosis: case report [PDF]
, 2007 PURPOSE: case report of congenital insensitivity to pain with anhydrosis of a 3-year-old child as well as discussing the speech-language findings, in relation to the aspects of the stomatognathic system, highlighting the process of rehabilitation for ...
Chiappetta, Ana Lúcia de Magalhães Leal +1 more
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Mini-Review on the Harlequin Syndrome—A Rare Dysautonomic Manifestation Requiring Attention
Medicina, 2022 Harlequin syndrome (HS) is a rare autonomic disorder. The causes and risk factors of the disease are not fully understood. Some cases of HS are associated with traumatic injuries, tumors, or vascular impairments of the head. Symptoms of HS can also occur
Ioannis Mavroudis +7 more
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Current evidence for a modulation of low back pain by human genetic variants [PDF]
, 2009 The manifestation of chronic back pain depends on structural, psychosocial, occupational and genetic influences. Heritability estimates for back pain range from 30% to 45%. Genetic influences are caused by genes affecting intervertebral disc degeneration
Aberle +200 more
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Lupus Erythematosus with Segmental Anhidrosis
Annals of Rheumatology and Autoimmunity, 2022 Systemic lupus erythematosus (SLE) is a multisystem connective tissue disorder that also affects all the components of the neurological system, such as autonomic, peripheral, and central nervous systems.
K. Geetha
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