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Artykuły w czasopismach na temat „Congenital Insensitivity to Pain (CIP) Syndrome”

Autor: Grafiati

Data publikacji: 3 czerwca 2025

Data aktualizacji: 31 lipca 2025

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1

Lawoyin, J., and D. Lawoyin. "Congential insensitivity to pain: report of two cases." Journal of Clinical Pediatric Dentistry 25, no. 2 (2002): 171–74. http://dx.doi.org/10.17796/jcpd.25.2.c473362147p01382.

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Congenital indifference or insensitivity to pain (CIP) is a rare syndrome. It mimics a number of other syndromes categorized under peripheral sensory neuropathies, often making early diagnosis difficult. Two cases from the middle east are presented, highlighting possible diagnostic, and management difficulties.

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Hamdani, Hind, Naoual Mtalai, Sara Ennaki, et al. "Congenital Insensitivity TO Pain: A Case Report." European Journal of Medical and Health Sciences 5, no. 4 (2023): 16–18. http://dx.doi.org/10.24018/ejmed.2023.5.4.1782.

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Congenital insensitivity to pain or more scientifically Hereditary sensory and autonomic neuropathies (HSAN) is a rare genetic disorder which associates a sensory dysfunction with a varying degree of autonomic dysfunction. Due to the peripheral neuropathy, a decreased sensitivity or even complete anesthesia may be present resulting in, on the ophthalmological level, neurotrophic ulcers. We report the case of 2 sisters (JM and KM) presenting with HSAN with recurrent corneal ulcers. Unfortunately, genetic testing couldn’t be performed due to lack of means, but the clinical presentation and featu

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Wheeler, Daniel W., Michael C. H. Lee, E. Katherine Harrison, David K. Menon, and C. Geoffrey Woods. "Case Report: Neuropathic pain in a patient with congenital insensitivity to pain." F1000Research 3 (June 26, 2014): 135. http://dx.doi.org/10.12688/f1000research.2642.1.

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We report a unique case of a woman with Channelopathy-associated Insensitivity to Pain (CIP) Syndrome, who developed features of neuropathic pain after sustaining pelvic fractures and an epidural hematoma that impinged on the right fifth lumbar (L5) nerve root. Her pelvic injuries were sustained during painless labor, which culminated in a Cesarean section. She had been diagnosed with CIP as child, which was later confirmed when she was found to have a null mutation of the SCN9a gene that encodes the voltage-gated sodium channel Nav1.7. She now complains of troubling continuous buzzing in both

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Wheeler, Daniel W., Michael C. H. Lee, E. Katherine Harrison, David K. Menon, and C. Geoffrey Woods. "Case Report: Neuropathic pain in a patient with congenital insensitivity to pain." F1000Research 3 (June 19, 2015): 135. http://dx.doi.org/10.12688/f1000research.2642.2.

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We report a unique case of a woman with Channelopathy-associated Insensitivity to Pain (CIP) Syndrome, who developed features of neuropathic pain after sustaining pelvic fractures and an epidural hematoma that impinged on the right fifth lumbar (L5) nerve root. Her pelvic injuries were sustained during painless labor, which culminated in a Cesarean section. She had been diagnosed with CIP as child, which was later confirmed when she was found to have null mutations of the SCN9A gene that encodes the voltage-gated sodium channel Nav1.7. She now complains of troubling continuous buzzing in both

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Chutanova, Aziza Abdullaivna, and Shahzoda Fayzulloevna Mukhiddinova. "Albinism, Cri Du Chat Syndrome, And Reilly Syndrome (CIPA): Features, Genetics, Diagnosis, And Treatment." European International Journal of Multidisciplinary Research and Management Studies 5, no. 5 (2025): 44–48. https://doi.org/10.55640/eijmrms-05-05-10.

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This article discusses three rare genetic diseases — albinism, Cri du Chat syndrome, and Reilly syndrome (congenital insensitivity to pain with anhidrosis). Their main clinical manifestations, diagnostic methods, features of genetic transmission, and modern approaches to treatment are described. An overview of the impact of these diseases on the quality of life of patients and the prospects for medical care is presented.

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Kundapur, Deeksha, Sheila Yu, and Sylvia Mohanraj. "Congenital Insensitivity to Pain." Meducator 1, no. 33 (2018): 7–8. http://dx.doi.org/10.15173/m.v1i33.1791.

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Pain is an essential sensation that has developed in complex organisms as an evolutionary mechanism to signal impending danger. Without pain, day-to-day functions become incredibly compromised. Pain is responsible for triggering the adoption of protective behaviours, such as physical withdrawal from painful stimuli to for tissue protection. Hereditary sensory and autonomic neuropathy type V (HSAN V), generally known as congenital insensitivity to pain(CIP), is a rare autosomal recessive sensory neuropathy. It is caused by defective nociceptive mechanisms, which result in an inability to experi

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Hamdaoui, Jihane, Pr Samir El Mazouz, Pr Noureddine Gharib, Pr Abdellah Abbassi, and Pr Jawad Hafidi. "Labial Reconstruction for Congenital Insensitivity to Pain: A Case Report." SAS Journal of Surgery 10, no. 04 (2024): 451–53. http://dx.doi.org/10.36347/sasjs.2024.v10i04.011.

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Congenital insensitivity to pain (CIP) is a very rare condition, most often of genetic origin. The authors report the case of a 10-year-old girl, followed for CIP following self-mutilation, particularly serious oro-digital, which is addressed in our training for lip reconstruction. CIP with anhidrosis is a very rare condition. It is characterized by feverish attacks, anhidrosis, absence of painful sensation, self-harm and sometimes mental retardation. Complications of this insensitivity (neglected fractures, burns, oro-digital mutilation) can be life-threatening. The treatment remains preventi

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Drissi, Ichrak, William Aidan Woods, and Christopher Geoffrey Woods. "Understanding the genetic basis of congenital insensitivity to pain." British Medical Bulletin 133, no. 1 (2020): 65–78. http://dx.doi.org/10.1093/bmb/ldaa003.

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Abstract Introduction or background Congenital insensitivity to pain (CIP) is caused by extremely rare Mendelian genetic disorders. CIP individuals demonstrate the unexpectedly severe consequences of painlessness. Although only a small number of causative conditions and genes are known, most have led to profound insights into human nociception. CIP gene discovery is catalyzing the manufacture of completely new classes of analgesics, and these are needed as alternatives to synthetic highly potent opioids. Sources of data Pubmed.gov peer-reviewed journal articles and reviews. Areas of agreement

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Khan, Arshad, Abdullah Khan, Farwa Shoaib, and Muhammad Mujtaba Mujtaba. "CONGENITAL INSENSITIVITY TO PAIN WITHOUT ANHIDROSIS." Khyber Journal of Medical Sciences 16, no. 2 (2023): 109–12. https://doi.org/10.70520/kjms.v16i2.459.

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Congenital Insensitivity to Pain (CIP) is a condition present from birth that inhibits the ability to perceive physical pain. Affected individuals are unable to feel pain in any part of their body. Although they feel discriminative touch, patients are unable to perceive what any person with a normal functioning sensory and autonomic nervous system would describe as painful. They are also unable to distinguish between extremes of both hot and cold temperatures. Congenital insensitivity to pain is considered a form of peripheral neuropathy because it affects the peripheral nervous system, which

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Makar, Gabriel, Sundeep Kahlon, and Mark Seeley. "Congenital Insensitivity to Pain due to a de novo L369P mutation in the SCN11A gene with Heterotrophic Ossification – A Case Report." Journal of Orthopaedic Case Reports 13, no. 8 (2023): 19–23. http://dx.doi.org/10.13107/jocr.2023.v13.i08.3798.

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Introduction: A male child with congenital insensitivity to pain (CIP) due to a novel de novo L369P mutation in the SCN11A gene was found to have significant bilateral hip flexion contractures, followed by severe heterotopic ossification after contraction release. This is the first report to describe a patient with this specific mutation and subsequent clinical course. Case Report: A male child with CIP due to de novo L369P mutation in the SCN11A gene was found to have significant bilateral hip flexion contractures. The patient underwent bilateral hip contracture releases to improve his standi

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Xu, Xiaohan. "Congenital insensitivity to pain: the controversy and possible pathophysiology model in progress." Highlights in Science, Engineering and Technology 36 (March 21, 2023): 493–98. http://dx.doi.org/10.54097/hset.v36i.5721.

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Congenital insensitivity to pain (CIP) is a disorder that emphasizes the critical role of nociception in protecting against tissue damage and is characterized by repeated injuries, burns, and poor wound healing. CIP is a developmental defect caused by pathogenic genetic variants in multiple genes. Current treatment modalities for patients with CIP are primarily symptomatic, but the first targeted therapies are being tested. Interestingly, this area of research offers new ideas for slow-moving pain, one of the great challenges still unresolved by the medical community.

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Peddareddygari, Leema Reddy, Kinsi Oberoi, and Raji P. Grewal. "Congenital Insensitivity to Pain: A Case Report and Review of the Literature." Case Reports in Neurological Medicine 2014 (2014): 1–4. http://dx.doi.org/10.1155/2014/141953.

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Congenital insensitivity to pain (CIP) is a rare autosomal recessive genetic disease caused by mutations in theSCN9Agene. We report a patient with the clinical features consistent with CIP in whom we detected a novel homozygous G2755T mutation in exon 15 of this gene. Routine electrophysiological studies are typically normal in patients with CIP. In our patient, these studies were abnormal and could represent the consequences of secondary complications of cervical and lumbosacral spine disease and associated severe Charcot’s joints.

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R. K., Rosheni, Surabhi K. S., Fiza S. H., Thanushree D. R., and Robin George. "Roots and fates of congenital insensitivity to pain and anhidrosis: a human phenotype." International Journal of Research in Medical Sciences 12, no. 4 (2024): 1361–68. http://dx.doi.org/10.18203/2320-6012.ijrms20240870.

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Congenital insensitivity to pain is a rare neurological disorder characterized by the inability to perceive physical pain. Individuals with CIP lack the typical nociceptive responses to harmful stimuli, which poses significant challenges to their safety and well-being. This condition is often caused by genetic mutations affecting the nervous system's ability to transmit pain signals. Despite the apparent advantage of not experiencing pain, CIP presents severe risks as affected individuals may unknowingly sustain injuries or develop medical complications without timely intervention. The absence

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14

An, Isa, and Derya Ucmak. "Congenital insensitivity to pain and anhydrosis syndrome." Indian Dermatology Online Journal 9, no. 3 (2018): 211. http://dx.doi.org/10.4103/idoj.idoj_86_17.

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Nabiyev, Vugar, Ateş Kara, and M. Cemalettin Aksoy. "Multidisciplinary assessment of congenital insensitivity to pain syndrome." Child's Nervous System 32, no. 9 (2016): 1741–44. http://dx.doi.org/10.1007/s00381-016-3059-5.

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Kilicaslan, Alper, Funda Gok, Eray Yasar, Ali Basdemirci, and Seref Otelcioglu. "Bispectral Index Guided Sedation in Congenital Pain Insensitivity Syndrome." Turkish Journal of Anesthesia and Reanimation 42, no. 5 (2014): 292–93. http://dx.doi.org/10.5152/tjar.2014.07269.

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Abouzaid, Maha, Manal Thomas, Ghada El-Kamah, and Mostafa Mostafa. "Could Congenital Insensitivity to Pain with Anhidrosis Be Misdiagnosed as Papillon–Lefèvre Syndrome?" Journal of Pediatric Genetics 06, no. 04 (2017): 238–40. http://dx.doi.org/10.1055/s-0037-1602801.

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AbstractPapillon–Lefèvre syndrome (PLS) is a rare autosomal recessive disorder characterized by early loss of teeth with hyperkeratosis of the palms and soles. Congenital insensitivity to pain with anhidrosis (CIPA) is a disorder of decreased pain sensation, decreased sweating, recurrent infections, and fever. Here, we report a 5-year-old girl born to consanguineous parents with a family history of a similarly affected sibling. The girl presented with early loss of teeth and palmoplantar hyperkeratosis, hence, provisionally diagnosed as PLS. Further clinical examination and detailed history ta

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Aksoy, Cemalettin. "Congenital Insensitivity to Pain Syndrome with Anhidrosis. Review of Literature." Journal of Pediatrics and Pediatric Medicine 2, no. 4 (2018): 14–20. http://dx.doi.org/10.29245/2578-2940/2018/4.1126.

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Al Kaissi, Ali, Franz Grill, and Rudolf Ganger. "Unilateral lytic changes over the weight-bearing joint causing severe destruction of ankle joint (atypical Charcot joint) in a girl with congenital insensitivity to pain without anhidrosis (hereditary sensory and autonomic neuropathy type V): Case report and literature review." Pediatric Traumatology, Orthopaedics and Reconstructive Surgery 7, no. 1 (2019): 81–86. http://dx.doi.org/10.17816/ptors7181-86.

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Background. The presence of Charcot arthropathies, joint dislocations, infections and fractures in a child without evidence of neurological abnormality should give rise to a suspicion of congenital insensitivity to pain (hereditary sensory and autonomic neuropathy). Hereditary sensory and autonomic neuropathy (HSAN) is a rare syndrome characterized by congenital insensitivity to pain, temperature changes and by autonomic nerve formation disorders. HSAN is classified into five types: sensory radicular neuropathy (HSAN I), congenital sensory neuropathy (HSAN II), familial dysautonomia or Riley D

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Shaaban, Hassan, Ardeshir Bayat, Peter Davenport, and Mamta Shah. "Necrotising fasciitis in an infant with congenital insensitivity to pain syndrome." British Journal of Plastic Surgery 55, no. 2 (2002): 160–63. http://dx.doi.org/10.1054/bjps.2001.3771.

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Masri, Amira, Mohammad Shboul, Aisha Khasawneh, et al. "Congenital insensitivity to pain with anhidrosis syndrome: A series from Jordan." Clinical Neurology and Neurosurgery 189 (February 2020): 105636. http://dx.doi.org/10.1016/j.clineuro.2019.105636.

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Tunçbilek, Gökhan, Can Öztekin, and Aycan Kayikçioğlu. "Calcaneal ulcer in a child with congenital insensitivity to pain syndrome." Scandinavian Journal of Plastic and Reconstructive Surgery and Hand Surgery 39, no. 3 (2005): 180–83. http://dx.doi.org/10.1080/02844310410004865.

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AL-EZZİ, Jalil İbrahim. "Congenital insensitivity to pain with anhidrosis syndrome: A case report in Diyala province / Iraq." Pediatric Practice and Research 10, no. 3 (2022): 134–38. http://dx.doi.org/10.21765/pprjournal.1182084.

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Congenital insensitivity to pain with anhidrosis syndrome (CIPA); is a rare autosomal recessive disorder presenting with pain insensitivity, sweating inability, and intellectual disability. The incapability to sense pain and temperature often leads to recurrent severe and inadvertent self-inflicted harm; these can result in severe complications, as patients settle slowly from skin and bone harm. We present a case of a four-year-old boy with a diagnosis of CIPA, after repeated visits to the hospital emergency department for repeated chest and both ankle joint infections, which prompted further

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Pérez-López, L. M., M. Cabrera-González, D. Gutiérrez-de la Iglesia, S. Ricart, and G. Knörr-Giménez. "Update Review and Clinical Presentation in Congenital Insensitivity to Pain and Anhidrosis." Case Reports in Pediatrics 2015 (2015): 1–7. http://dx.doi.org/10.1155/2015/589852.

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Introduction. Congenital insensitivity to pain and anhidrosis (CIPA) or hereditary sensory and autonomic neuropathy type IV is an extremely rare syndrome. Three clinical findings define the syndrome: insensitivity to pain, impossibility to sweat, and mental retardation. This pathology is caused by a genetic mutation in the NTRK1 gene, which encodes a tyrosine receptor (TrkA) for nerve growth factor (NGF).Methods. The consultation of a child female in our center with CIPA and a tibia fracture in pseudoarthrosis encouraged us to carefully review literature and examine the therapeutic possibiliti

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Kurnaz, Recep, Murat Asci, Orhan Balta, Kursad Aytekin, and Taner Gunes. "Congenital insensitivity to pain syndrome accompanied by neglected orthopedic traumas and complications." Archive of Clinical Cases 04, no. 01 (2017): 27–33. http://dx.doi.org/10.22551/2017.14.0401.10090.

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RASMUSSEN, P. "The congenital insensitivity-to-pain syndrome (analgesia congenita): report of a case." International Journal of Paediatric Dentistry 6, no. 2 (2009): 117–22. http://dx.doi.org/10.1111/j.1365-263x.1996.tb00223.x.

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Zhang, Yimin, Xin Jiang, and Jianyong Liu. "Congenital insensitivity to pain and anhidrosis syndrome: two cases involving a brother and sister." Chinese Medical Journal 127, no. 22 (2014): 3999–4000. http://dx.doi.org/10.3760/cma.j.issn.0366-6999.20141450.

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Malik, Qudrat Ullah, Asbah Rahman, Farooq Ikram, Muhammad Shoaib, Uzma Akhlaque, and Muhammad Tawab Khalil. "FIRST REPORTED CASE OF MAJEED SYNDROME FROM PAKISTAN." PAFMJ 71, no. 5 (2021): 1903–05. http://dx.doi.org/10.51253/pafmj.v71i5.5930.

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Majeed syndrome, characterized by chronic recurrent multifocal osteomyelitis and congenital dyserythropoeitic anemia, is a rare disease reported in children. We report a case of Majeed Syndrome in a 9-year-old boy, born of consanguineous marriage reporting to us for treatment of anemia, requiring blood transfusion. He underwent below-knee-amputation due to unresolving recurrent osteomyelitis at multiple sites. There was history of pain insensitivity and fever during hot weather as well. His interleukin-6 levels were raised. This is the first case of Majeed Syndrome from Pakistan and first in t

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Levy, Jaime, Tova Monos, Jacov Levy, Ilan Shelef, Michael Nash, and Tova Lifshitz. "Intrasinus Wood Foreign Body Causing Orbital Cellulitis in Congenital Insensitivity to Pain with Anhidrosis Syndrome." Ophthalmic Plastic & Reconstructive Surgery 20, no. 1 (2004): 81–83. http://dx.doi.org/10.1097/01.iop.0000103001.09896.fb.

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Baker, Mohammed, Kenda Abedal-Kareem, Sadeen Eid, et al. "Ocular Manifestations in Congenital Insensitivity to Pain with Anhidrosis: A Window into a Rare Syndrome." Vision 9, no. 3 (2025): 62. https://doi.org/10.3390/vision9030062.

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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 unexplained fever, anhidrosis, absence of reactions to noxious stimuli, intellectual disability, self-mutilating behaviors, and damage to many body organs, including the eyes. Main text: We systematically searched the Medline/PubMed, Scopus, and Web of Science databases from their inception until March 2025 for papers describing the clinical manif

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Sandroni, Paola, David P. Martin, Barbara K. Bruce, and Jeffrey D. Rome. "Congenital idiopathic inability to perceive pain: A new syndrome of insensitivity to pain and itch with preserved small fibers." Pain 122, no. 1 (2006): 210–15. http://dx.doi.org/10.1016/j.pain.2006.01.033.

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Urfalioglu, Aykut, Mahmut Arslan, Yakup Duman, et al. "Anesthesia Procedure for Congenital Insensitivity to Pain in a Child with Anhidrosis Syndrome: A Rare Case." Journal of Nippon Medical School 84, no. 5 (2017): 237–40. http://dx.doi.org/10.1272/jnms.84.237.

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Gasina, Liena, Nityanand Jain, Arturs Viksne, Dzintars Ozols, Mohit Kakar, and Uldis Bergmanis. "Recurrent Osteomyelitis in a Paediatric Patient with a Novel NTRK1 Mutation: A Case Report on Congenital Insensitivity to Pain with Anhidrosis." Children 12, no. 3 (2025): 344. https://doi.org/10.3390/children12030344.

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Background: Congenital insensitivity to pain with anhidrosis (CIPA), also known as hereditary sensory and autonomic neuropathy type IV (HSAN IV), is an exceedingly rare genetic disorder characterized by the inability to perceive pain, inability to sweat, and various neurological and orthopaedic complications. Case Presentation: This is a case report of a 3-year-old female patient as the first case in Latvia diagnosed with CIPA syndrome who repeatedly presented to Children’s Clinical University Hospital (CCUH) in Riga, Latvia, with severe orthopaedic manifestations. The patient had repeated fra

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Xu, Qinghua, Yanchun Wang, Yuantao Zhou, et al. "Phenotypes of a toddler with hereditary sensory and autonomic neuropathy type IV: comparing with normal: A case report." Medicine 103, no. 3 (2024): e36955. http://dx.doi.org/10.1097/md.0000000000036955.

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Rationale: Hereditary sensory and autonomic neuropathy type IV (HSAN IV) may be misdiagnosed because of low awareness among clinical professionals and overlap with other subtypes of congenital insensitivity to pain (CIP). Patient: The patient was a 1-year-and-5-months-old boy whose main symptoms were delayed psychomotor development and recurrent fever. Whole-exome sequencing (WES) revealed a compound heterozygous mutation (c. 1927C > T, c. 851-33T > A) in the NTRK1 gene of the child. Pathological analysis showed decreased autonomic small nerve fibers, sparse hair follicles, and atrophy o

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Melamed, I., J. Levy, R. Parvari, and E. W. Gelfand. "A Novel Lymphocyte Signaling Defect: trk A Mutation in the Syndrome of Congenital Insensitivity to Pain and Anhidrosis (CIPA)." Journal of Clinical Immunology 24, no. 4 (2004): 441–48. http://dx.doi.org/10.1023/b:joci.0000029106.84310.5e.

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Degerli, Semih, Seher Altınel, and Eyup Horasanlı. "Bispectral index monitoring in a patient with combination of congenital insensitivity to pain with anhidrosis (CIPA) and Shwachman–Diamond syndrome." Journal of Anesthesia 28, no. 1 (2013): 137–38. http://dx.doi.org/10.1007/s00540-013-1668-7.

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Moss, C., S. M. Srinivas, N. Sarveswaran, et al. "Midface toddler excoriation syndrome (MiTES) can be caused by autosomal recessive biallelic mutations in a gene for congenital insensitivity to pain, PRDM12." British Journal of Dermatology 179, no. 5 (2018): 1135–40. http://dx.doi.org/10.1111/bjd.16893.

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Narang, T., and S. Singh. "Response to: Midface toddler excoriation syndrome (MiTES) can be caused by autosomal recessive biallelic mutations in a gene for congenital insensitivity to pain, PRDM 12." British Journal of Dermatology 180, no. 2 (2018): 431. http://dx.doi.org/10.1111/bjd.17338.

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Johnston, Benjamin, Lauren Sun, Pramith Senaratne, et al. "1082 AAV-Based Upregulation of Potassium Channels as a Focal Treatment of Chronic Pain." Neurosurgery 71, Supplement_1 (2025): 157. https://doi.org/10.1227/neu.0000000000003360_1082.

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INTRODUCTION: Efforts to treat pain by reducing the excitability of nociceptors (first order pain-sensing neurons), have focused on the NaV1.7 sodium channel, since loss of SCN9A (gene for NaV1.7) leads to congenital insensitivity to pain, whereas NaV1.7 gain-of-function mutation causes the severe painful syndrome familial erythromelalgia. Despite these genetic mutations and their distinct phenotypes, pharmacologic Nav!.7 targeting has not been a successful strategy. Most pain conditions are focal, yet most treatments are systemic and expose patients to potentially unnecessary systemic adverse

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Smith, Lyndon J., Lucy Norcliffe-Kaufmann, Jose-Alberto Palma, Horacio Kaufmann, and Vaughan G. Macefield. "Impaired sensorimotor control of the hand in congenital absence of functional muscle spindles." Journal of Neurophysiology 120, no. 6 (2018): 2788–95. http://dx.doi.org/10.1152/jn.00528.2018.

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Patients with hereditary sensory and autonomic neuropathy type III (HSAN III) exhibit marked ataxia, including gait disturbances. We recently showed that functional muscle spindle afferents in the leg, recorded via intraneural microelectrodes inserted into the peroneal nerve, are absent in HSAN III, although large-diameter cutaneous afferents are intact. Moreover, there is a tight correlation between loss of proprioceptive acuity at the knee and the severity of gait impairment. We tested the hypothesis that manual motor performance is also compromised in HSAN III, attributed to the predicted a

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Akdoğan, A., A. Eroğlu, D. Kutanis, and B. Cekic. "Anesthetic Management in a Patient with Congenital Insensitivity to Pain Syndrome for Lower Extremity Surgery." October 18, 2016. https://doi.org/10.19070/2332-2780-1600070.

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Congenital insensitivity to pain (CIP) is a rarely syndrome and is characterized by unresponsiveness to painful stimulants, anhydrous, mental retardation, and recurring feverish episodes. In this case report we presented our anesthesia management in a patient with congenital insensitivity to pain for lower extremity surgery due to osteomyelitis.

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Yu, Hanrui, Jie Wu, Jinju Cong, et al. "Congenital insensitivity to pain associated with PRDM12 mutation: Two case reports and a literature review." Frontiers in Genetics 14 (March 20, 2023). http://dx.doi.org/10.3389/fgene.2023.1139161.

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Background:PRDM12 is a newly discovered gene responsible for congenital insensitivity to pain (CIP). Its clinical manifestations are various and not widely known.Methods: The clinical data of two infants diagnosed with CIP associated with PRDM12 mutation were collected. A literature review was performed, and the clinical characteristics of 20 cases diagnosed with a mutation of PRDM12 were summarized and analyzed.Results: Two patients had pain insensitivity, tongue and lip defects, and corneal ulcers. The genomic analysis results showed that variants of PRDM12 were detected in the two families.

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"Molecular pathobiology of aspirin responsive erythromelalgia in thrombocythemia and incurable inherited erythermalgia in Nav1.7mutated neuropathy." International Journal of Cancer Research & Therapy 2, no. 2 (2017). http://dx.doi.org/10.33140/ijcrt/02/02/00002.

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The original description of erythromelalgia of Mitchell has been separated into three distinct disease entities of aspirin responsive erythromelalgia in thrombocythemia, incurable congenital dominant primary erythermalgia (PE), and aspirin resistant secondary erthermalgia. Aspirin responsive platelet-mediated erythromelalgic and thrombotic processes in the end-arterial circulation of toes or fingers has been discovered as a distinct arterial thrombophilic disease entity (Sticky Platelet Syndrome) in acquired and congenital thrombocythemia due to gain of function mutations in the JAK2, TPO, MPL

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Sarveswaran, Nivedita, Yunisa Pamela, Akhila A. N. Reddy, et al. "Midfacial Toddler Excoriation syndrome (MiTES): case series, diagnostic criteria and evidence for a pathogenic mechanism." British Journal of Dermatology, April 9, 2024. http://dx.doi.org/10.1093/bjd/ljae151.

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Abstract Background PRDM12 polyalanine tract expansions cause two different disorders; Midfacial Toddler Excoriation Syndrome (MiTES) - itch with normal pain sensation associated with homozygous 18 alanines (18A), and congenital insensitivity to pain (CIP) with normal itch with homozygous 19A. Knowledge of the phenotype, genotype, and disease mechanism of MiTES is incomplete. Why PRDM12 18A versus 19A can cause almost opposite phenotypes is unknown; no other poly-alanine or poly-glutamine tract expansion disease causes two such disparate phenotypes. Methods We assessed the genotype and phenoty

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Biswas, Debojit, Paramita Thander, Moumita Pati, and Pankaj Halder. "Congenital Insensitivity to Pain: A Fatal Entity." Indian Journal of Medical Specialities, April 29, 2024. http://dx.doi.org/10.4103/injms.injms_140_23.

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Congenital insensitivity to pain (CIP), also known as congenital analgesia, is an autosomal recessive, extraordinarily rare condition, in which a patient cannot feel pain in any part of his or her body. These patients may experience hyperthermia due to anhidrosis and sustain multiple fatal injuries because they are unable to feel pain at all. All these contribute to the early demise of the patient at a young age. Herein, we attempt to highlight the potentially catastrophic effects of CIP in a 4-year-old girl and reevaluate the representative features that a prudent physician should be aware of

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Elsana, Baker, Libe Gradstein, Ahed Imtirat, et al. "Ocular manifestations of congenital insensitivity to pain: a long-term follow-up." British Journal of Ophthalmology, March 22, 2021, bjophthalmol—2020–317464. http://dx.doi.org/10.1136/bjophthalmol-2020-317464.

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AimTo describe ocular manifestations in children with congenital insensitivity to pain with and without anhidrosis (CIPA and CIP).MethodsWe reviewed records of eye examinations of 39 children diagnosed with CIPA or CIP. We collected clinical data, with particular attention to ocular surface findings. Corneal sensitivity was tested by presence of a blink reflex upon touching the cornea. Statistical analysis assessed differences in manifestations between the two conditions, and relationships among corneal sensitivity, presence of corneal opacities and visual acuity (VA).ResultsCIPA was diagnosed

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Stunnenberg, Bas, Charlotte Haaxma, Mieke van Haelst, et al. "Novel SCN9A Mutations in a Compound Heterozygous Girl with Congenital Insensitivity to Pain." Journal of Pediatric Neurology, August 5, 2020. http://dx.doi.org/10.1055/s-0040-1714067.

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AbstractCongenital Insensitivity to Pain (CIP) is a rare disorder that is characterized by the inability to perceive pain. It is caused by bi-allelic inactivating mutations in the SCN9A gene, which encodes the pore-forming α-subunit of the nerve voltage-gated sodium channel (Nav1.7). Patients with CIP are unable to feel pain from noxious stimuli, including heat, but all other peripheral somatosensory modalities function normally. Often anosmia is present as an additional feature. We report a patient with CIP caused by compound heterozygous SCN9A mutations: a novel in-frame deletion of exon 7 a

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Lischka, Annette, Katja Eggermann, Christopher J. Record, et al. "Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies." Brain, September 28, 2023. http://dx.doi.org/10.1093/brain/awad328.

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Abstract Congenital insensitivity to pain (CIP) and hereditary sensory and autonomic neuropathies (HSAN) are clinically and genetically heterogeneous disorders exclusively or predominantly affecting the sensory and autonomic neurons. Due to the rarity of the diseases and findings based mainly on single case reports or small case series, knowledge about these disorders is limited. Here, we describe the molecular workup of a large international cohort of CIP/HSAN patients including patients from normally underrepresented countries. We identify 80 previously unreported pathogenic or likely pathog

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Kamil, Hazem, Riffa Alassri, Douaa Belal, Abu Baker Alassri, Nafiza Martini, and Jaber Mahmod. "A challenging diagnosis of chronic osteomyelitis in a child with congenital insensitivity to pain: A case report." Annals of Medicine & Surgery, March 21, 2024. http://dx.doi.org/10.1097/ms9.0000000000001971.

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Introduction: Congenital insensitivity to pain (CIP) is a rare condition where individuals are born with an inability to perceive pain. This can lead to various complications in the skin, skeletal system, and other bodily systems. Chronic osteomyelitis is one of the possible manifestations of CIP, which can be difficult to diagnose and treat due to the lack of pain as a diagnostic criterion. Presentation: a 5-year-old boy with CIP, developed chronic osteomyelitis in his right leg, presented with fever, claudication, swelling, and local heat for two months. He had a history of CIP since birth,

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Al Amroh, H. H., A. L. Reyes, J. Barret Austin Hillary, and W. H. Al Khaffaf. "Painless: a case of congenital insensitivity to pain in a 5-year-old male." Oxford Medical Case Reports 2020, no. 7 (2020). http://dx.doi.org/10.1093/omcr/omaa046.

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Abstract Background: several genetic disorders are known to be associated with congenital insensitivity to pain (CIP), a term often used to describe an impaired ability to perceive the type, intensity and quality of noxious stimuli. Children with CIP often injure themselves severely. The injury can go unnoticed or be misdiagnosed as child abuse because it is associated with multiple and recurrent injuries which may result in permanent damage. Patient findings: we report the case of a 5-year-old boy with a history of showing no signs of pain when exposed to accidental injuries such as trauma, b

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