Results 11 to 20 of about 1,211 (180)

Atypical Presentation of Congenital Insensitivity to Pain With Anhidrosis Leading to Diagnostic Odyssey [PDF]

Molecular Genetics & Genomic Medicine
Background 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, Martin E. Garber, Lauren Hipp, Jenna Damon, Qing Li   +4 more
doaj   +3 more sources

Congenital Insensitivity to Pain and Anhidrosis With Orthopedic and Self‐Injury Complications in a 5‐Year‐Old Boy: A Case Report [PDF]

Clinical Case Reports
Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal recessive disorder because of NTRK1 gene mutations, leading to an inability to perceive pain and temperature and lack of sweating. Its rarity and unique clinical challenges, such
Zubair Amin, Humza Saeed, Syed Imam Naufil, Sadaf Saba, Abdullah Imtiaz, Syed Hassan Akhlaq, Muhammad Husnain Ahmad, Masab Ali   +7 more
doaj   +3 more sources

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 Medicine
Background 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, Soojin Hwang, Yoon Hae Kwak, Mi‐Sun Yum, Go Hun Seo, June‐Young Koh, Young Seok Ju, Ji‐Hee Yoon, Minji Kang, Hyo‐Sang Do, Soyoung Kim, Gu‐Hwan Kim, Hyunwoo Bae, Beom Hee Lee   +13 more
doaj   +3 more sources

Identification of novel variations in the NTRK1 gene causing congenital insensitivity to pain with anhidrosis [PDF]

Molecular Genetics & Genomic Medicine, 2021
Background Congenital insensitivity to pain (CIP) conditions are a group of Mendelian disorders with clinical and genetic heterogeneity. CIP with anhidrosis (CIPA) is a distinct subtype caused by biallelic variants in the NTRK1 gene.
Shang Li, Hua‐ying Hu, Jun‐Jun Xu, Zhan‐ke Feng, Yong‐qing Sun, Xu Chen, Kai Yang, Ya‐zhou Li, Dong‐liang Zhang   +8 more
doaj   +3 more sources

A novel treatment strategy with hyperbaric oxygen of chronic osteomyelitis and pseudoarthrosis in a child with congenital hereditary sensory and autonomic neuropathy type 4 congenital insensitivity to pain with anhidrosis syndrome: a case report [PDF]

Journal of Medical Case Reports
Background Congenital insensitivity to pain with anhidrosis is a rare but devastating hereditary disease. Congenital insensitivity to pain with anhidrosis is caused by a mutation in the neurotrophic receptor tyrosine kinase 1 gene (NRTK1).
Anders Kjellberg, Rebecca Gustafsson, Pavel Antonsson, Henrik Hedelin   +3 more
doaj   +2 more sources

Congenital insensitivity to pain with anhidrosis

Journal of the Pakistan Medical Association
Congenital Insensitivity to Pain with Anhidrosis (CIPA) is characterised by disruption of sensory neurons caused by genetic mutations in the Neurotrophic Tyrosine Kinase 1 (NTRK1) gene which leads to impaired pain sensation, accompanied by anhidrosis ...
Meher Ayyazuddin, Nushra Maqsood, Saman Khan, Muhammad Ali, Spenta Kakalia   +4 more
doaj   +2 more sources

Update Review and Clinical Presentation in Congenital Insensitivity to Pain and Anhidrosis [PDF]

Case Reports in Pediatrics, 2015
Introduction. Congenital insensitivity to pain and anhidrosis (CIPA) or hereditary sensory and autonomic neuropathy type IV is an extremely rare syndrome.
L. M. Pérez-López, M. Cabrera-González, D. Gutiérrez-de la Iglesia, S. Ricart, G. Knörr-Giménez   +4 more
doaj   +6 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, Sandeep Arora, Shamsher Singh Dalal, Sudeep Kumar   +3 more
doaj   +2 more sources

Ophthalmic findings of congenital insensitivity to pain with anhidrosis with a novel neurotrophic tyrosine kinase receptor type 1 gene mutation: A case report [PDF]

Frontiers in Medicine, 2022
We report a case of congenital insensitivity to pain with anhidrosis (CIPA) with a novel neurotrophic tyrosine kinase receptor type 1 (NTRK1) gene mutation. The patient suffered from recurrent corneal ulcer.
Rong Zhu, Yuxiang Zhu, Mingpeng Xu, Zhensheng Gu   +3 more
doaj   +2 more sources

Novel Gross Deletion Mutations in NTRK1 Gene Associated With Congenital Insensitivity to Pain With Anhidrosis [PDF]

Frontiers in Pediatrics, 2021
Background: Congenital insensitivity to pain with anhidrosis (CIPA) is a rare inherited autosomal recessive disorder characterized by insensitivity to noxious stimuli, anhidrosis, recurrent fever, and intellectual disability.
Lulu Li, Chao Jia, Yue Tang, Yuanyuan Kong, Yaofang Xia, Li Ma   +5 more
doaj   +2 more sources