Results 71 to 80 of about 96,208,754 (165)

Congenital Insensitivity to Pain with Anhidrosis (HSAN Type IV), Extremely Rare Syndrome that Can Be Easily Missed by Bone and Joint Surgeons: A Case Report [PDF]

, 2013
Background: Congenital insensitivity to pain with anhidrosis is an extremely rare disorder in which injuries can often be missed by patient, parents and even by orthopedic surgeon.
Sharma, Sonali, Ali, Nadeem, Sharma, Sushil, Sharma, Sudesh, Kamal, Younis   +4 more
core   +2 more sources

A rare case of congenital corneal anesthesia

Medical Journal of Dr. D.Y. Patil Vidyapeeth, 2023
A 12-year-old male, who had a history of trauma in his right eye at 2 years of age, presented to the clinic with diminution of vision and whitish discoloration in his right eye.
Kunj Naik, Aditya Ganesh Garlapati, Shailaja Anand, Renu Magdum, Nilay Dhore   +4 more
doaj   +1 more source

Oral Rehabilitation in Patient With Hereditary Sensory and Autonomic Neuropathy (HSAN) Type V: Clinical Report

Case Reports in Dentistry, Volume 2025, Issue 1, 2025.
Hereditary sensory and autonomic neuropathies (HSANs) are rare inheritable syndromes of unknown etiology. They typically appear in early childhood and are categorized into six different types based on their symptoms. HSAN‐V is characterized by loss of pain and thermal perception, Charcot joints, painless fractures, scoliosis, oral lesions, and absent ...
Sana Lala, Ammar Almustafa, Leandro Napier De Souza   +2 more
wiley   +1 more source

A novel mutation in the SCN9A gene associated with congenital insensitivity to pain, anhidrosis, and mild cognitive impairment

Pediatric Dermatology, Volume 41, Issue 1, Page 80-83, January/February 2024.
Abstract Congenital insensitivity to pain (CIP) is a rare phenotype characterized by the inability to perceive pain stimuli with subsequent self‐injuries, whereas CIP associated with anhidrosis (CIPA) is an overlapping phenotype mainly characterized by insensitivity to noxious stimuli and anhidrosis.
Maurizio Romagnuolo, Chiara Moltrasio, Riccardo Cavalli, Michela Brena, Gianluca Tadini   +4 more
wiley   +1 more source

Nerve Growth Factor and the Physiology of Pain: Lessons from Congenital Insensitivity to Pain with Anhidrosis

, 2012
Congenital insensitivity to pain with anhidrosis (CIPA) is an autosomal recessive genetic disorder characterized by insensitivity to pain, anhidrosis (the inability to sweat) and mental retardation.
インドウ, ヤスヒロ, Indo, Yasuhiro, 犬童, 康弘   +2 more
core   +1 more source

Analysis of pathogenic variants and prenatal genetic diagnosis in families with congenital insensitivity to pain with anhidrosis [PDF]

Jichu yixue yu linchuang
Objective Genetic testing and prenatal diagnosis were conducted in 18 congenital insensitivity to pain with anhidrosis(CIPA)families, laying the foundation for reducing the incidence of CIPA.
CHEN Xin, LI Shuang, JIANG Yulin, REN Xiuzhi, ZHAO Xiuli
doaj   +1 more source

Homozygous mutations in NTRK1 gene underlie congenital insensitivity to pain with anhidrosis in Pakistani families

, 2016
Congenital insensitivity to pain with anhidrosis is a rare autosomal recessive disorder presenting with loss of pain sensation, thermal sensation defects, and self-mutilating behavior.
Husna Zayadi
core   +1 more source

Congenital insensitivity to pain with anhidrosis

Journal of Pediatric Neurosciences, 2012
Dias, Edwin, Charki, Siddu
  +6 more sources

Two Case Reports of Neuropsychological Functioning in Congenital Insensitivity to Pain with Anhidrosis (CIPA)

, 2020
Individuals with congenital insensitivity to pain with anhidrosis (CIPA) are reported to have intellectual disability but to our knowledge, no detailed study about neuropsychological functioning of this condition has ever been published.
Zequeira Cotes, Rodrigo, Santoya Montes, Yanin Elena, Puentes Rozo, Pedro, Gutiérrez Ruiz, Karol Patricia   +3 more
core   +1 more source

Update Review and Clinical Presentation in Congenital Insensitivity to Pain and Anhidrosis

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   +1 more source