Results 21 to 30 of about 4,137 (157)

Ophthalmic manifestation of Hereditary Sensory and Autonomic Neuropathy – Five-year follow up

open access: yesIndian Journal of Ophthalmology. Case Reports, 2022
Hereditary Sensory and Autonomic Neuropathy (HSAN) is a rare genetic disorder that usually begins in childhood. It is associated with sensory dysfunction (depressed reflexes, altered pain and temperature perception).
Praveen Dhanapal   +2 more
doaj   +1 more source

Mini-Review on the Harlequin Syndrome—A Rare Dysautonomic Manifestation Requiring Attention

open access: yesMedicina, 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
doaj   +1 more source

Anhidrosis [PDF]

open access: yes, 2006
Anhidrosis with emphasis on etiopathogenesis is reviewed in this paper. Anhidrosis, a non-sweating syndrome in horses, first reported in 1925, was mainly observed in temperate horses introduced into the hot humid environment.
Abdullah, Rasedee   +2 more
core   +1 more source

Congenital insensitivity to pain with anhidrosis

open access: yes, 1998
PubMedID: 9651783We present a five-year-old girl with congenital insensitivity to pain with anhidrosis. A skeletal radiographic survey revealed several old fractures.
Polat S.   +3 more
core   +2 more sources

Sisters with no pain, no tears: A report of a new variant of hereditary sensory and autonomic neuropathy (Type IX) Caused by a novel SCN11A mutation

open access: yesIndian Journal of Dermatology, 2020
Lack of pain sensation in children involves a rare group of heritable disorders; hereditary sensory and autonomic neuropathy (HSAN). Till date, eight types of HSAN have been described depending on the clinical phenotype and the underlying gene mutation ...
Shital Poojary   +3 more
doaj   +1 more source

Recreating the missing smile: A case report on ectodermal dysplasia

open access: yesSRM 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
doaj   +1 more source

Ross syndrome and diabetes mellitus: An interesting association

open access: yesClinical Dermatology Review, 2020
Ross syndrome is a rare disorder of sweating with a triad of segmental anhidrosis, tonic pupil, and hyporeflexia. Survey of available literature shows scarce reporting of such cases globally and countable number of cases from India.
Chetan D Rajput   +3 more
doaj   +1 more source

Pathogenesis of Cholinergic Urticaria in Relation to Sweating

open access: yesAllergology 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
doaj   +1 more source

Prosthetic Rehabilitation of A Child with Transfemoral Amputation Who Had Congenital Insensitivity to Pain with Anhidrosis

open access: yes, 2011
Congenital insensitivity to pain with anhidrosis is a rare autosomal-recessive disorder characterized by systemic anhidrosis, insensitivity to pain, mental retardation, osteomyelitis, and joint deformities which could result in amputations.
Ulger, Ozlem   +2 more
core   +2 more sources

Case Report: Sjögren’s disease diagnosed following generalized anhidrosis

open access: yesJournal of Cutaneous Immunology and Allergy
Sjögren’s disease typically presents with initial symptoms such as dry mouth, dry eyes, fatigue, and joint pain. This report describes a case of Sjögren’s disease diagnosed following the onset of generalized anhidrosis.
Yoko Shimada   +7 more
doaj   +1 more source

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