Results 21 to 30 of about 96,208,754 (165)

Congenital Insensitivity to Pain and Anhidrosis. [PDF]

Arch Plast Surg, 2016
Hereditary sensory and autonomic neuropathy (HSAN) or hereditary sensory neuropathy has five different clinical subtypes. Congenital insensitivity to pain and anhidrosis (CIPA) is HSAN type IV. CIPA is a rare disease with an autosomal recessive inheritance. Recurrent episodes of fever, no sweating, insensitivity to pain, and self-injury are symptoms of
Shin JY, Kim SW, Roh SG, Lee NH, Yang KM.   +4 more
europepmc   +5 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

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

Congenital insensitivity to pain and anhidrosis: A case report from South India

Indian Journal of Dermatology, 2012
Congenital insensitivity to pain with anhidrosis, also known as hereditary sensory and autonomic neuropathy type IV, is an autosomal recessive disorder characterized by the congenital lack of pain sensation, inability to sweat, episodes of recurrent ...
Carounanidy Udayashankar, P Oudeacoumar, Amiya Kumar Nath   +2 more
doaj   +2 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   +2 more sources

Autism spectrum disorder in a boy with congenital insensitivity to pain with anhidrosis: a case report [PDF]

BMC Pediatrics, 2022
Background In this case report, we described the past history, clinical manifestations, genetic characteristics and cognitive evaluation of a boy with congenital insensitivity to pain with anhidrosis (CIPA) who developed autism spectrum disorder (ASD ...
Mi Zhang, Xueqin Cao, Ningbo Li, Guangyou Duan, Xianwei Zhang   +4 more
doaj   +2 more sources

Ocular Manifestations in Congenital Insensitivity to Pain with Anhidrosis: A Window into a Rare Syndrome [PDF]

Vision
Background: Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal recessive syndrome caused by loss-of-function mutations in the Neurotrophic Tyrosine Kinase Receptor 1 gene, characterized by recurrent episodes of infections and ...
Mohammed Baker, Kenda Abedal-Kareem, Sadeen Eid, Mahmoud Alkhawaldeh, Yahya Albashaireh, Jihan Joulani, Sara Bani Amer, Ethar Hazaimeh, Omar F. Jbarah, Abdelwahab Aleshawi, Rami Al-Dwairi   +10 more
doaj   +2 more sources

Clinical, genomics and networking analyses of a high-altitude native American Ecuadorian patient with congenital insensitivity to pain with anhidrosis: a case report [PDF]

BMC Medical Genomics, 2020
Background Congenital insensitivity to pain with anhidrosis (CIPA) is an extremely rare autosomal recessive disorder characterized by insensitivity to pain, inability to sweat and intellectual disability.
Andrés López-Cortés, Ana Karina Zambrano, Patricia Guevara-Ramírez, Byron Albuja Echeverría, Santiago Guerrero, Eliana Cabascango, Andy Pérez-Villa, Isaac Armendáriz-Castillo, Jennyfer M. García-Cárdenas, Verónica Yumiceba, Gabriela Pérez-M, Paola E. Leone, César Paz-y-Miño   +12 more
doaj   +2 more sources

Raising awareness through a case of recurrent fractures in a child with congenital insensitivity to pain and anhidrosis in Saudi Arabia [PDF]

The Ewha Medical Journal
Patients with congenital insensitivity to pain and anhidrosis (CIPA) exhibit an inability to perceive pain, recurrent fractures, self-mutilation, and impaired thermoregulation, which lead to severe complications and high morbidity.
Amaal Aldosari, Abdulraheem Almokhtar, Hashem Bukhary, Raed Sharaf, Khalid Alhomayani   +4 more
doaj   +2 more sources

Multidisciplinary Approach for Dental Management of Congenital Insensitivity to Pain with Anhidrosis: Clinical Case Report with 12-Month Follow-Up [PDF]

Dentistry Journal
Background: Congenital Insensitivity to Pain and Anhidrosis (CIPA) is a rare autosomal recessive disorder characterized by congenital analgesia, anhidrosis, and multisystem involvement affecting the musculoskeletal, cutaneous, oral, and para-oral ...
Almoataz B. A. T. Abdel-bari, Mohamed Fawzy, Khaled A. Saad, Hatem A. Alhadainy   +3 more
doaj   +2 more sources