Results 11 to 20 of about 8,115 (216)
Clinical and genetic characteristics of three patients with congenital insensitivity to pain with anhidrosis: Case reports and a review of the literature [PDF]
Molecular Genetics & Genomic MedicineBackground Congenital insensitivity to pain with anhidrosis (CIPA) is an extremely rare autosomal recessive disorder caused by loss‐of‐function mutations of the NTRK1 gene, affecting the autonomic and sensory nervous system.
Jun Hee Cho +13 more
doaj +2 more sources
CONGENITAL INSENSITIVITY TO PAIN WITH ANHYDROSIS
Gomal Journal of Medical Sciences, 2016 Congenital insensitivity to pain with anhydrosis (CIPA) is a rare genetic disorder characterized by inability to feel pain and temperature, and decreased or absent sweating.
Muhammad shafiq Khan +2 more
doaj +1 more source
Atypical Presentation of Congenital Insensitivity to Pain With Anhidrosis Leading to Diagnostic Odyssey [PDF]
Molecular Genetics & Genomic MedicineBackground Congenital insensitivity to pain with anhidrosis (CIPA) (OMIM 256800) is a rare autosomal‐recessive condition, also known as hereditary sensory and autonomic neuropathy type IV (HSAN‐IV). The most commonly reported features include anhidrosis,
Tomoyasu Higashimoto +4 more
doaj +2 more sources
Congenital insensitivity to pain and anhydrosis syndrome
Indian Dermatology Online Journal, 2018 Isa An, Derya Ucmak
doaj +3 more sources
Congenital insensitivity to pain [PDF]
The Journal of Bone and Joint Surgery. British volume, 2002 We reviewed 13 patients with congenital insensitivity to pain. A quantitative sweat test was carried out in five and an intradermal histamine test in ten. DNA examination showed specific mutations in four patients. There were three clinical presentations: type A, in which multiple infections occurred (five patients); type B, with fractures, growth ...
E, Bar-On +5 more
openaire +2 more sources
Clinical features for diagnosis and management of patients with PRDM12 congenital insensitivity to pain. [PDF]
, 2016 BACKGROUND: Congenital insensitivity to pain (CIP) is a rare extreme phenotype characterised by an inability to perceive pain present from birth due to lack of, or malfunction of, nociceptors.
Ahmed, Mushtaq +7 more
core +9 more sources
Congenital Insensitivity to Pain and Anhidrosis: Dermoscopy of a Rare Genetic Disorder [PDF]
Indian Dermatology Online JournalBalachandra S. Ankad +3 more
doaj +2 more sources
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
doaj +1 more source
Frontiers in Surgery, 2022 Congenital insensitivity to pain with anhidrosis (CIPA) is a rare, autosomal recessive disease classified as hereditary sensory and autonomic neuropathy type VI. Patients with CIPA are characterized by insensitivity to pain, episodes of unexplained fever,
Ying Zhang, Zhiyu Geng
doaj +1 more source
Tomography, 2023 Hereditary sensory and autonomic neuropathy type 4 (HSAN4), also known as congenital insensitivity to pain with anhidrosis (CIPA), is a rare genetic disorder caused by NTRK1 gene mutations, affecting nerve growth factor signaling. This study investigates
Cheng-Chun Chiang +5 more
doaj +1 more source