61. CONGENITAL INSENSITIVITY/INDIFFERENCE TO PAIN: Contact A Family - For Families congenital insensitivity to pain congenital Indifference to pain; Hereditaryand Sensory Autonomic Neuropathy Types IIV; HSAN Types I-IV. http://www.cafamily.org.uk/Direct/c645.html

printer friendly CONGENITAL INSENSITIVITY/INDIFFERENCE TO PAIN home more about us in your area conditions information ... how you can help search this site Did you find this page helpful? yes no Congenital Insensitivity to Pain: Congenital Indifference to Pain; Hereditary and Sensory Autonomic Neuropathy Types I-IV; HSAN Types I-IV In Congenital Insensitivity to Pain, there are structural abnormalities in peripheral nerves which are the peripheral pathways carrying electrical impulses from pain sensitive nerve endings in both superficial and deep tissues. In Congenital Indifference to Pain, the peripheral nerves are intact and the defect is apparently in the central structures such as the thalamus where painful impulses are normally interpreted. However, it is now thought that some individuals, formerly given a diagnosis of Congenital Indifference to Pain, have been shown by refined histological techniques, which look at the minute structures of bodies, to also have peripheral nerve abnormalities and are therefore examples of Congenital Insensitivity to Pain. Nevertheless, Congenital Indifference to Pain almost certainly exists as an independent condition, but is very rare. Congenital Insensitivity to Pain (of which types I to IV are generally accepted, with some other very rare conditions) is usually classified under the more general heading of Hereditary and Sensory Autonomic Neuropathy (HSAN). The various categories are distinguished according to clinical features, including age of onset, progressive or non-progressive, presence or absence of abnormalities of the autonomic nervous system, if the system is sympathetic (augmenting actions) or parasympathetic (inhibiting actions) and also according to the nature of structural abnormalities in peripheral nerves.

62. Index H: Contact A Family - For Families With Disabled Children: Information On HOOD see NailPatella syndrome HPE see Holoprosencephaly HPRT see Lesch Nyhan syndromeHSAN see congenital insensitivity/Indifference to pain HSAN Type I see http://www.cafamily.org.uk/Idx/h.html

printer friendly home more about us in your area ... how you can help search this site Please use the Index below to access the condition on which you require information. If you do not find what you want in the Index then try our search facility in the navigator on the left. Contact a Family also has information on many other specific conditions and rare disorders. If you cannot find the information you require in The Contact a Family Directory Online , you may wish to use our Contact a Family Helpline service. HAE see C1 Esterase Inhibitor Deficiency HCM see Cardiomyopathies HGG see Primary Immunodeficiencies HGPRT Deficiency see Lesch Nyhan syndrome HH see Hypothalmic Hamartoma HHH see Metabolic diseases HHT see Hereditary Haemorrhagic Telangiectasia HIV Infection and AIDS HLH see Histiocytosis HLHS see Hypoplastic Left Heart syndrome HME see Hemimegalencephaly HMG CoA Lyase Deficiency see Organic Acidaemias HMS see Hypermobility HOCM see Cardiomyopathies HOOD see Nail-Patella syndrome HPE see Holoprosencephaly HPRT see Lesch Nyhan syndrome HSAN see Congenital Insensitivity/Indifference to Pain HSAN Type I see Congenital Insensitivity/Indifference to Pain HSAN Type II see Congenital Insensitivity/Indifference to Pain HSAN Type III see Congenital Insensitivity/Indifference to Pain HSAN Type IV see Congenital Insensitivity/Indifference to Pain HSP see Henoch Schonlein Purpura Haemangiomas see

63. Entrez PubMed congenital insensitivity to pain with anhidrosis. pain insensitivity,congenital/complications; pain insensitivity, congenital/etiology; http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Abstra

64. Entrez PubMed Click here to read congenital insensitivity to pain an update. pain insensitivity,congenital/classification; pain insensitivity, congenital/epidemiology; http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=1

65. Congenital Autonomic Dysfunction With Universal Pain Loss (Riga-Fede Disease) from congenital autonomic dysfunction with universal pain loss, which is a form ofhereditary sensory autonomic neuropathy. The patient s insensitivity to pain http://dermatology.cdlib.org/DOJvol7num2/nyu2/7/7.html

refs = new Array("References:","Burgess G, et al. Eosinophilic ulcer of the tongue: report of two cases. Arch Dermatol 113:644, 1977 ", "Elzay R. Traumatic ulcerative granuloma with stromal eosinophilia (Riga-Fede's disease and traumatic eosinophilic granuloma). Oral Surg Oral Med Oral Pathol 55:497, 1983 ", "Rongioletti F, et al. Traumatic eosinophilic ulcer of the oral mucosa. Cutis 43:357, 1989 ", "Eichenfeld L, et al. Traumatic granoloma of the tongue (Riga-Fede disease): association with familial dysautonomia. J Pediatr 116:742, 1990 ", "Mezei M, et al. Eosinophilic ulcer of the oral mucosa. J Am Acad Dermatol 33:734, 1995 "); DOJ Contents English Congenital autonomic dysfunction with universal pain loss (Riga-Fede disease) Brian R. Toy Dermatology Online Journal 7(2): 17 New York University Department of Dermatology History This 20-month-old boy presented to the Bellevue Hospital Medical Center at age ten months for evaluation of oral plaques of three-months duration. The lesions appeared shortly after teething and were exacerbated by repetitive tongue thrusting and lip biting. Past medical history includes developmental delay and poor feeding since birth. Family history is negative for skin and developmental disorders and congenital syndromes.

66. Genetics Of Congenital Insensitivity To Pain With Anhidrosis (CIPA) Subject Genetics of congenital insensitivity to pain with Anhidrosis (CIPA) TopicArea Neurology Forum The Neurology and Neurosurgery Forum Question Posted http://www.medhelp.org/forums/neuro/messages/30436a.html

Questions in The Neurology Forum are being answered by doctors from The Cleveland Clinic , consistently ranked one of the best hospitals in America. Subject: Genetics of Congenital Insensitivity to Pain with Anhidrosis (CIPA) Topic Area: Neurology Forum: The Neurology and Neurosurgery Forum Question Posted By: Clark on Sunday, March 05, 2000 My first child has a disease very close to CIPA. While waiting for further diagnosis, I am now expecting my second child. I would apprecaite it very much if anyone could help me by answering the following questions: 1/How much is the chance of my second child getting the same disease? 2/ Is it possible to have a test to find out the condition of my second baby? Answer Posted By: CCF Neuro[P] MD, RPS on Sunday, March 05, 2000 Dear Clark: I am sorry to hear about your child. Hereditary sensory and autonomic neuropathy type IV is a rare autosomal recessive disorder characterized by congenital insensitivity to pain, anhidrosis, defective temperature control, and mild mental retardation. There is a selective loss of unmyelinated axons and small myelinated fibers. The gene locus for this entity maps to chromosome 1q21-22. Mutations in the trkA gene encoding the tyrosine kinase receptor for nerve growth factor have been described in some patients. I know you know this already, but I thought I'd put it in for others. As an autosomal recessive gene, the chances of your next child having the disease is 25%. As much as I know, there is no prenatal test for this entity. Because the gene is not known for sure, we can't test for what we do not know.

67. GeneCards Disorder Information: Insensitivity To Pain Congenital With Anhidrosis GeneCards Disorder Information insensitivity to pain congenital with anhidrosis.Search different databases containing disease information http://genecards.bcgsc.bc.ca/cgi-bin/disodisp?Insensitivity to pain congenital w

68. Uhrad.com - Pediatric Imaging Teaching Files uhrad.com Pediatric ImagingTeaching Files. Case Seven - congenitalinsensitivity to pain. Diagnosis congenital insensitivity to pain. http://www.uhrad.com/pedsarc/peds007.htm

uhrad.com - Pediatric ImagingTeaching Files Case Seven - Congenital Insensitivity to Pain Click on Images for Enlarged View Clinical History: 7 year old female with known hereditary sensory neuropathy. Presents with right infected index finger. Findings: AP and lateral view of the right hand demonstrate loss of cortex and length of the distal phalanx of the second finger consistent with erosion of bone as can be seen with osteomyelitis. Irregularity of the cortex of the tip of the first distal phalanx is also seen so that osteomyelitis within this region or the effects of trauma cannot be ruled out. AP view of the foot was also obtained and demonstrate sclerosis and irregularity of the bony margins at the distal aspect of the first metatarsal bone. In addition there is medial subluxation of the distal aspect of the first metatarsal with respect to the first proximal phalanx. These findings are most likely due to remote injury. Differential Diagnosis: Findings in the hand demonstrate acroosteolysis. This may either be familial or acquired. The familial form of acroosteolysis is also known as Hajdu-Cheney syndrome or acquired acroosteolysis causes of which are burns, frostbite, electric shock, exposure to polyvinyl chloride, syringomyelia, diabetes, congenital insensitivity to pain, leprosy, Raynaud's disease, collagen vascular diseases, sarcoidosis, hyperparathyroidism, Lesch-Nyhan syndrome.

69. Congenital Insensitivity To Pain (hereditary Sensory And Autonomic Neuropathy) H Hereditary sensory and Autonomic Neuropathies/DI; pain insensitivity, congenital/DI;Hereditary sensory and Autonomic Neuropathies/CL; Case Report; Human; Child http://medind.nic.in/imvw/imvw689.html

Extracted from IndMED Kumar RK ; Kiran NDS ; Reddy VVS Dept. of Pedodontics and Preventive Dentistry, Collage of Dental sciences, Davangere, Karnataka Congenital Insensitivity to pain (hereditary sensory and autonomic neuropathy) HSAN : a report of two cases Journal of Indian Society of Pedodontics and Preventive Dentistry. 2002 Jun; 20(2): 51-3 ABSTRACT: Pain is one of the protective phenomenon possessed by the body. Pain arouses and demands our immediate attention. There are instances in which there is a congenital insensitivity to pain. Two cases of congenital insensitivity to pain are reported. KEYWORDS: Hereditary sensory and Autonomic Neuropathies/DI; Pain insensitivity, Congenital/DI; Hereditary sensory and Autonomic Neuropathies/CL; Case Report; Human; Child; Male; Female References: 11 Record Identifier: NI208071

70. Congenital Insensitivity To Pain New Delhi 110029. congenital insensitivity to pain. Indian Journalof Orthopaedics. 1990 Jan; 24(1) 1245. KEYWORDS Osteomyelitis/DI http://medind.nic.in/imvw/imvw19542.html

Extracted from IndMED Rao S; Bhan S; Dave PK. Department of Orthopaedics, All India Institute of Medical Sciences, Ansari Nagar, New Delhi 110029 Congenital insensitivity to pain Indian Journal of Orthopaedics. 1990 Jan; 24(1): 124-5 KEYWORDS: Osteomyelitis/DI; Osteomyelitis/SU; Fever/CO; Pelvis/RA; Anesthesia, General/UT; Human; Male; Child; Case Report Record Identifier: NI204151

71. Neuroscience For Kids - Pain These people have a rare condition called congenital insensitivity to pain .Their nervous systems are not equipped to detect painful information. http://faculty.washington.edu/chudler/pain.html

Pain and Why It Hurts You may not like it, but we need pain. Pain acts as a warning system that protects you. Pain says, "Warning, Warning....stop what you doing and do something else". For example, if you have your hand on a hot stove, pain tells you to stop touching the stove and remove your hand. In this way, pain protects your body from injury (or further injury if you have already hurt yourself). Pain also helps healing...because an injury hurts, you rest. There are some people who are born WITHOUT the sense of pain. These people have a rare condition called "congenital insensitivity to pain". Their nervous systems are not equipped to detect painful information. You may think this is a good thing....it is NOT. Without the ability to detect painful events, you would continue to cause injury to yourself. For example, if you broke a bone in your arm, you might continue using the arm because it did not hurt. You could cause further injury to your arm. People with congenital insensitivity to pain usually have many injuries like pressure sores, damaged joints and even missing or damaged fingers! So, what kind of things in the outside world can cause pain? Events that cause reactions are called

72. MeSH-D Terms Associated To MeSH-C Term Pain Insensitivity MeSHD terms associated to MeSH-C term pain insensitivity, congenital,G2D Home. The number indicates the strength of the association http://www.bork.embl-heidelberg.de/g2d/c2d.pl?Pain_Insensitivity,_Congenital:unk

73. CancerGene NTRK1 Diseases, Carcinoma, Papillary; Hypohidrosis; pain insensitivity, congenital;Thyroid Neoplasms. Note, see also TRK (CG120 or OMIM164970 ). Comments. http://caroll.vjf.cnrs.fr/cancergene/CG194.html

Infobiogen Search CancerGene CancerGene Homepage Search CancerGene Citations CancerGene Card Symbol Aliases TRKA; TRK Name neurotrophic tyrosine kinase, receptor, type 1 Locus OMIM GDB SwissProt LocusLink Class ONCOGENE; TRANSLOC Diseases Carcinoma, Papillary; Hypohidrosis; Pain Insensitivity, Congenital; Thyroid Neoplasms Note see also TRK ( CG:120 or OMIM:164970 Comments TRK oncogenes are created by chromosomal rearrangements linking the tyrosine-kinase domain of the NTRK1 gene (encoding one of the receptors for the nerve growth factor) to foreign activating sequences. TRK oncogenes are frequently detected in human papillary thyroid carcinoma, as result of rearrangements involving at least three different activating genes. Greco et al. (1993, PMID:8288244 ) have found that the rearrangements creating all the TRK oncogenes so far characterized fall within a 2.9-kb XbaI/SmaI restriction fragment of the NTRK1 gene. Translocations Translocation Genes Diseases Refs rearrangement NTRK1/TPM3 (TRK) Papillary Thyroid Carcinoma;

74. HONselect - Pain Cross Reference(s) Analgesia, Analgesics. Hyperalgesia, pain insensitivity,congenital, Palliative Care. MeSH 2001 © National Library of Medicine®. http://www.hon.ch/HONselect/Selection/C23.888.592.612.html

All Web sites HONcode sites HONselect News ... Images HONselect Search English French German Spanish Portuguese the word the part of word in MeSH term in MeSH term and description Contents on "Pain": MeSH hierarchy and definition Research Articles Web resources Medical Images Medical News Medical Conferences Clinical Trials MeSH Hierarchy English French German Spanish Portuguese MeSH Broader term(s) Biological Sciences Musculoskeletal, Neural, and Ocular Physiology Nervous System Physiology Sensation Psychiatry and Psychology Psychological Phenomena and Processes Psychophysiology Sensation Diseases Pathological Conditions, Signs and Symptoms Signs and Symptoms Neurologic Manifestations Diseases Nervous System Diseases Neurologic Manifestations Pain MeSH definition An unpleasant sensation induced by noxious stimuli and generally received by specialized nerve endings. Subheadings : complications / diagnosis / embryology / epidemiology / etiology / metabolism / microbiology / surgery / therapy MeSH Narrow term(s) Back Pain Facial Pain Neuralgia Abdominal Pain Arthralgia Pelvic Pain Headache Neck Pain Pain, Intractable

75. HONselect - Peripheral Nervous System Diseases pain insensitivity, congenital. Accepted term(s) Peripheral Nerve Diseases -PeripheralNeuropathies -PNS (Peripheral Nervous System) Diseases -PNS Diseases. http://www.hon.ch/HONselect/Selection/C10.772.html

All Web sites HONcode sites HONselect News ... Images HONselect Search English French German Spanish Portuguese the word the part of word in MeSH term in MeSH term and description Contents on "Peripheral Nervous System Diseases": MeSH hierarchy and definition Research Articles Web resources Medical Images Medical News Medical Conferences Clinical Trials MeSH Hierarchy English French German Spanish Portuguese MeSH Broader term(s) Diseases Nervous System Diseases Neuromuscular Diseases Peripheral Nervous System Diseases MeSH definition Diseases of the peripheral nerves external to the brain and spinal cord, which includes diseases of the nerve roots, ganglia, plexi, autonomic nerves, sensory nerves, and motor nerves. Subheadings : complications / diagnosis / embryology / epidemiology / etiology / metabolism / microbiology / surgery / therapy MeSH Narrow term(s) Brachial Plexus Neuropathies Complex Regional Pain Syndromes Diabetic Neuropathies Guillain-Barre Syndrome Mononeuropathies Nerve Compression Syndromes Neuralgia Neuritis Peripheral Nervous System Neoplasms Polyneuropathies Acrodynia Amyloid Neuropathies Isaacs Syndrome Neurofibromatosis 1 Pain Insensitivity, Congenital

76. Karger Publishers 15 Silverman FN, Gilden JJ congenital insensitivity to pain A neurologicsyndrome with bizarre skeletal lesions. Radiology 1959;72176190. http://content.karger.com/ProdukteDB/produkte.asp?Aktion=ShowFulltext&ProduktNr=

77. AAPM&R - Case No. 43, Cont Commentary V. Hereditary Sensory Autonomic Neuropathy IV (HSAN IV) isalso called congenital insensitivity to pain and Anhydrosis (CIPA). http://www.aapmr.org/education/emgcases/emg5903e.htm

What is a Physiatrist? Legislative, Business and Clinical Practice Issues Annual Assembly Medical Education ... EMG EMG CASE No. 59, January 2003, continued Diagnostic Impression Nerve conduction studies showed absent sural sensory nerve potentials bilaterally, with borderline right ulnar sensory nerve evoked amplitude. Borderline low tibial compound motor action potential amplitude and delay in distal latencies bilaterally are also noted. Motor nerve conduction velocities were all borderline slow. Electromyography was essentially normal. The electrodiagnostic impression: Predominantly sensory axonal polyneuropathy with some evidence of motor involvement, axonal and demyelinating in nature. What other diagnostic procedures (laboratory tests, etc.), if any, are needed? What treatment would you recommend? Commentary V Bibliography Hilz MJ. Assessment and evaluation of hereditary sensory and autonomic neuropathies with autonomic and neurophysiological examinations. Clin Auton Res 2002 May;12 Suppl 1:I33-43. Nolano M, Crisci C, Santoro L et al. Absent innervation of skin and sweat glands in congenital insensitivity to pain with anhidrosis. Clin Neurophysiol 2000 Sep;111(9):1596-601.

78. PharmGKB: Hereditary Sensory And Autonomic Neuropathies Alternate Names congenital insensitivity to pain with Anhidrosis; HSAN; HSAN (HereditarySensory Autonomic Neuropathy); HSAN Type I; HSAN Type II; HSAN Type http://www.pharmgkb.org/do/serve?objId=PA445111&objCls=Disease

79. OMIM - INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS; CIPA http://www3.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=256800

80. International Symposium On CIPA 2003 Concerning the International Symposium on congenital insensitivity to pain with Anhidrosis(ISCIPA) 2003 congenital insensitivity to pain with anhidrosis (CIPA http://www.tomorrow.or.jp/eng_sympo01.html

International Symposium on Congenital Insensitivity to Pain with Anhidrosis 2003 MESSAGES : President,Organizing Committee MESSAGES : President,"Tomorrow" CIPA-2003 program 3/11/19 Concerning the International Symposium on Congenital Insensitivity to Pain with Anhidrosis (IS-CIPA) 2003 Congenital insensitivity to pain with anhidrosis (CIPA) is a rare congenital condition characterised by reduced sensitivity to pain and heat, and an inability to sweat. It was first reported by the Tokyo University team of Nishida et al. in 1951, at which time a full understanding was not possible due to insufficient patient numbers. The results of work done with CIPA in Japan have attracted worldwide attention, leading to this international symposium on CIPA being held in this country. The aim of this symposium will be for specialists in fields related to CIPA and the families of sufferers, from both Japan and overseas, to discuss a broad range of topics, including basic research, clinical developments, and support measures. Learning more about this disease shows us how much a disturbance of two of the basic human defence mechanisms, the abilities to feel pain and to sweat, can interfere with human lifestyle. The study of CIPA can also aid in the elucidation of the mechanism and role of sweating and sensitivity to pain and heat. We look forward to the attendance, and participation in lively discussions, of members of the medical, welfare, educational and psychological professions, as well as lay people.

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