Results 21 to 30 of about 3,826 (210)

A missense mutation in the KCNE4 gene is not predictive of equine anhidrosis. [PDF]

Anim Genet
van der Graaf L, Leigh W, Szmatoła T, Roberts K, Ryan S, Brown B, Van Buren S, Finno CJ, Petersen JL.   +8 more
europepmc   +3 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

Indian 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, Saurabh Jaiswal, Kapisha Sunny Shah, Krishna B Bhalala   +3 more
doaj   +1 more source

Ross syndrome and diabetes mellitus: An interesting association

Clinical 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, Sanjay B Gore, Shailesh S Malani, Swagat M Shah   +3 more
doaj   +1 more source

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, Sandeep Arora, Shamsher Singh Dalal, Sudeep Kumar   +3 more
doaj   +1 more source

Clinical and genetic analysis of <i>ERCC8</i>-Related cockayne syndrome: hepatic dysfunction as a biomarker, anhidrosis as a rare feature, and rehabilitation outcomes for ankle contractures. [PDF]

Front Genet
Chen J, Su W, Gao D, Liu F, Chen S, Zhang W, Peng M, Lei T, Zhu H.   +8 more
europepmc   +3 more sources

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, Anuja Sunkwad, Bhushan Darkase, Uday Khopkar   +3 more
doaj   +1 more source

Miliaria and Anhidrosis

Dermatology, 1967
M.B. Sulzberger, T.B. Griffin, H.S. Wiley   +2 more
openaire   +2 more sources

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
doaj   +1 more source

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, Ioana-Miruna Balmus, Alin Ciobica, Alina-Costina Luca, Rumana Chowdhury, Alin-Constantin Iordache, Dragos Lucian Gorgan, Iulian Radu   +7 more
doaj   +1 more source

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
doaj   +1 more source