The patient we are presenting had small ectopic nonfunctioning right kidney in the association with CISS. [hindawi.com]

This condition rarely occurs in infancy, and DOES NOT present with fevers or arthralgias. [autoinflammatory.org]

Worldwide, there are fewer than 100 reported cases and we present the second Indian patient with a CRLF1 genetic mutation [1-4]. [indianpediatrics.net]

Symptoms present at birth, and continuous. [102] Symptoms may be present at birth or early infancy. [102] Purpuric rash presenting at birth or in infancy. Vasculitis noted on skin biopsy. [autoinflammatory-search.org]

Polinsky Academic Press, ٢٩‏/١١‏/٢٠١١ - 703 من الصفحات The Primer on the Autonomic Nervous System presents, in a readable and accessible format, key information about how the autonomic nervous system controls the body, particularly in response to stress [books.google.com]

• Hyperthermia

  occasionally high grade with seizures, but it is often only low grade, this hyperthermia will be resolved gradually in months. [saudijhealthsci.org]

  Hyperthermia can present around the time of birth or may not occur until an infant is a few weeks old (2,3). This problem can lead to brain damage and death. [forgottendiseases.org]

  Some patients still showed hypersalivation or hyperthermia in adulthood (Table 1 and Supplementary Table 1). [nature.com]

  Autosomal recessive disorder with muscle contractions resembling neonatal tetanus, characteristic face, camptodactyly, hyperthermia, and sudden death: A new syndrome? Am J Med Genet. 1996;62:365-71. 6. [indianpediatrics.net]

  CS/CISS2 individuals suffer from recurrent episodes of hyperthermia in the neonatal period and paradoxical sweating at cold ambient temperatures in adolescence. Variants in CLCF1 (cardiotrophin-like-cytokine 1) cause CS/CISS2. [researcher-app.com]

• Fever

  After the first 2 years, the abnormal muscle contractions and fevers abate, and most patients show normal psychomotor development. [diseaseinfosearch.org]

  Dermographism. [13] Intermittent fevers can rise >40°C. Chills are uncommon. Fatigue and headaches are common with fevers. [autoinflammatory-search.org]

  This condition rarely occurs in infancy, and DOES NOT present with fevers or arthralgias. [autoinflammatory.org]

  […] awareness of the dangers relating to high fever. [adc.bmj.com]

• Feeding Difficulties

  […] and respiratory difficulties often requiring the use of nasogastric feeding. [nature.com]

  Baby was always having great feeding difficulties, not sucking, or swallowing and kept always on nasogastric tube feeding. [saudijhealthsci.org]

  Our patient was hypotonic at birth and experienced severe feeding difficulties. He had elongated face, high-arched palate, weak cry, large pinnae, short hands, tapering fingers, clinodactyly, and reduced tendon reflexes. [neurology.org]

  The muscles in the lower part of the face are weak, leading to severe feeding difficulties, excessive drooling, and breathing problems. [encyclopedia.pub]

• Crying

  Affected infants show a tendency to startle, with contractions of the facial muscles in response to tactile stimuli or during crying, trismus, abundant salivation, and opisthotonus. [malacards.org]

  Affected infants show a tendency to startle, with contractions of the facial muscles in response to tactile stimuli or during crying, trismus, abundant salivation, and opisthotonus. During the first year, most infants have spiking fevers. [diseaseinfosearch.org]

  Neurological examination revealed a weak cry and decreased spontaneous motor activity. [indianpediatrics.net]

  Crying was accompanied by spasmodic contractions of the face, jaw, and neck muscles while crying [Figure 1]b and [Figure 3]b. [jcnonweb.com]

  Camptodactyly was still evident [Figure 7], with some salivation, easily startled and occasional facial contractions specially upon startling and during crying. [saudijhealthsci.org]

• Short Stature

  stature syndrome Short stature, microcephaly, and endocrine dysfunction Short stature, optic nerve atrophy, and Pelger-Huet anomaly SHORT syndrome Short-rib thoracic dysplasia Shprintzen-Goldberg syndrome Silver-Russell syndrome Skeletal abnormalities [qlinics.com]

  stature (child) R62.59 Other lack of expected normal physiological development in childhood R62.7 Adult failure to thrive R63 Symptoms and signs concerning food and fluid intake Reimbursement claims with a date of service on or after October 1, 2015 [icd10data.com]

  Growth delay, including short stature is often seen. [123]. Not noted. [120] [98] Not noted. [120] [98] CRP, ESR, platelets may be elevated during flares. [autoinflammatory-search.org]

  Genetic Testing - Idiopathic short stature (Idiopathic short stature - ISS) - Gen SHOX. Genetic Testing - Imatinib: gastrointestinal stromal tumor. Imatinib (Gastrointestinal stromal tumor -GIST-) - Genes KIT and PDGFRA. [ivami.com]

• Respiratory Distress

  distress 1 Hematologic Polycythaemia rubra vera, Non-Hodgkin's lymphoma, Lymphoma Iatrogenic Castration, neuroleptic malignant syndrome, postorchiectomy, serotonin syndrome Infectious Disease Abscess, acute rheumatic fever, AIDS, atypical mycobacteria [wikidoc.org]

  Affected infants often are unable to survive past one year due to life-threatening complications such as episodes where there is a sudden rise in body temperature (hyperthermia) or respiratory distress. [rarediseases.org]

  Baby had initial mild respiratory distress with tetaniform facial muscle contractions, increased salivation and short apneas. The characteristic contractions slowly disappeared when she calmed or slept. [saudijhealthsci.org]

  Non-infectious conjunctivitis may be caused by DIRA. [15] [16] Some with respiratory distress. One known case of pulmonary hemosiderosis with progressive interstitial fibrosis. [15] [16] [17] DIRA patients rarely have gastrointestinal issues. [autoinflammatory-search.org]

  Genetic Testing - Spinal muscular atrophy with respiratory distress type 1 (muscular atrophy Spinal With respiratory distress type 1 - SMARD1-) - Gen IGHMBP2. [ivami.com]

• Nausea

  These adverse effects can range from slight symptoms like headaches or nausea, to severe symptoms like coma and convulsions and death. [pmep.cce.cornell.edu]

  Depending on how bad it is, sometimes there is a flood of nausea with it, and in extreme cases, vertigo-like symptoms. So these “hot flashes” weren’t your typical “menopausal” type hot flashes as far as I could tell. [fluoroquinolonethyroid.com]

  Most symptoms during an episode last less than 24 hours, and can also include conjunctivitis in the eyes, sweating, fatigue, headaches, generalized pains, extreme thirst, and nausea in addition to the fever, rash and joint pains. [autoinflammatory.org]

  Early symptoms are similar to those of heat exhaustion, with confusion or change in personality, loss of coordination, dizziness, headache, and nausea that progress to more severe symptoms. [wwwnc.cdc.gov]

  Excess sweating can also be caused by opioid withdrawal, so if there are other withdrawal signs or symptoms (body aches, runny nose, nausea, stomach cramps), the sweating may improve with a dose increase. [drug.addictionblog.org]

• Diarrhea

  For example, headache, fever, nausea, vomiting and diarrhea are very common non-specific symptoms of disease, produced by many, many conditions. [pmep.cce.cornell.edu]

  Higher risk for issues with S. pneumoniae infections. [78] Extreme pain, vomiting and diarrhea with flares. [1], [9] A few cases with colitis, including early-onset, and sometimes severe colitis in the neonatal period, with bloody diarrhea. [136]. [autoinflammatory-search.org]

  For example, while changes in baseline body temperature, thirst, fainting, dizziness, fatigue, bowel or gut dysfunction (diarrhea, constipation, dysmotility) could be related to autonomic nervous system dysfunction, these very same signs and symptoms [mitoaction.org]

  Each of them has particular clinical features, some common signs of deficient syndromes are fatigue, low-spiritedness, pale or sallow complexion, palpitation, breath shortness, cold limbs, sweating, diarrhea, loose bowels, urinary frequency or incontinence [shen-nong.com]

  Patients who develop acute urticarial eruptions can have other accompanying manifestations of a systemic anaphylactic reaction such as wheezing, laryngeal edema, cramps, diarrhea, and hypotension. [worldallergy.org]

• Vomiting

  For example, headache, fever, nausea, vomiting and diarrhea are very common non-specific symptoms of disease, produced by many, many conditions. [pmep.cce.cornell.edu]

  Subacute heat exhaustion may develop over several days and is often misdiagnosed as “summer flu” because of findings of weakness, fatigue, headache, dizziness, anorexia, nausea, vomiting, and diarrhea. [wwwnc.cdc.gov]

  Vomiting and diarrhea during flares. Splenomegaly, transaminitis. Inflammatory infiltrates are noted in the intestine. [autoinflammatory-search.org]

  But a racing heart, dizziness and foggy brain are only three of many symptoms of POTS, which can include any or all of the following: fainting, extreme fatigue, headaches, stomach pains, nausea and vomiting, difficulty concentrating, weakness in the legs [nytimes.com]

  Interior syndrome Cold type Fever, chills, headache, body aching, nasal congestion, sweating or lack of sweating, floating and tense pulse, thin white tongue coating Chills, cold limbs, pale complexion, lack of thirst or preference for hot drinks, nausea, vomiting [shen-nong.com]

• Hypersalivation

  Some patients still showed hypersalivation or hyperthermia in adulthood (Table 1 and Supplementary Table 1). [nature.com]

• Cyanosis

  From the second month she had gradual decreasing attacks of facial muscle contractions and circum-oral cyanosis. [saudijhealthsci.org]

  Common clinical features of Crisponi syndrome Medical problems Camptodactyly (permanent bending of one or more fingers; see photo below) Spinal curvature abnormalities (scoliosis, kyphosis, or both) Intellectual disability (in less than half of patients) Cyanosis [forgottendiseases.org]

  During infancy the most disabling feature is their tendency to startle; they have frequent episodes of severe facial muscle contractions usually in response to tactile stimuli, feeding, or crying; those episodes are severe enough to cause apnea and cyanosis [hindawi.com]

  Acrocyanosis is manifested by changes in skin colour towards cyanosis after exposure to cold. Other symptoms could be dysfunction of hand and fingers in the acrocyanotic area. [ilocis.org]

• Sweating

  2, is related to cold-induced sweating syndrome including crisponi syndrome and crisponi/cold-induced sweating syndrome 1. [malacards.org]

  PMID: 24613578 Crisponi/cold-induced sweating syndrome: Differential diagnosis, pathogenesis and treatment concepts. [pubmed.ncbi.nlm.nih.gov]

  The role of these genes in sympathetic nervous system development may help explain the abnormal sweating that is characteristic of this condition, including unusual sweating patterns and related problems with body temperature regulation. [medlineplus.gov]

  Patients have hyperhidrosis, mainly of the upper body, in response to cold temperatures, and sweat very little with heat. [diseaseinfosearch.org]

  During the office visits the patient was noticed to have excessive sweating. It was found that the patient had been having excessive sweating for a long time, primarily from the trunk, and surprisingly sweated only when he was cold. [hindawi.com]

• Muscle Spasm

  Clonazepam for muscle spasms and moxonidine for cold induced sweating have been tried with variable response. Monitoring is recommended for development of kyphoscoliosis and psychomotor retardation [4,6]. [indianpediatrics.net]

  CRLF1 gene is involved in motor neuron survival and in the function of autonomic nervous system (temperature regulation, muscle spasms and paradoxical sweating); it is also expressed in the sweat glands. [saudijhealthsci.org]

  CRPS is an involvement of nerves, skin, muscles, blood vessels (causing constriction, spasms, and pain) as well as bones. [princessinthetower.org]

• Lacrimation

  Although uncommon, symptoms of more generalized cholinergic stimulation such as lacrimation, salivation, and diarrhea may occasionally be seen. These various stimuli have the common feature of being mediated by cholinergic nerve fibers. [worldallergy.org]

  Inflamed conjunctiva (conjunctivitis), and/or inflammation of the lacrimal glands, retina and optic nerves is common. [34] Some have atrial hypertension and/or pericarditis. [autoinflammatory-search.org]

  (See Acro-Dermato-Unguel-Lacrimal-Dental syndrome) (Acro-Dermato-ungual-Tooth syndrome). Genetic testing - AEC syndrome ... (See Hay-Wells syndrome ...). [ivami.com]

• Hot Flushes

  However, at many centres, hormonal treatment is no longer the treatment of choice for hot flushes in cancer patients [Figure - 2]. [jpalliativecare.com]

• Seizure

  No evidence of kyphoscoliosis, no seizures, no apneas, or respiratory problems were observed. [saudijhealthsci.org]

  […] related Miller Dieker lissencephaly syndrome Mitochondrial complex III deficiency, nuclear type 7 Mitochondrial myopathy and sideroblastic anemia type 1 Mosaic variegated aneuploidy syndrome type 2 Mulibrey nanism Multiple congenital anomalies-hypotonia-seizures [qlinics.com]

  By six months of age, infants with Crisponi syndrome develop unexplained high fevers that increase the risk of seizures and sudden death. [encyclopedia.pub]

  […] clinical features of Crisponi syndrome Medical problems Camptodactyly (permanent bending of one or more fingers; see photo below) Spinal curvature abnormalities (scoliosis, kyphosis, or both) Intellectual disability (in less than half of patients) Cyanosis Seizures [forgottendiseases.org]

  The vague and nonspecific symptoms are the same as those described for hyponatremia in other settings, including anorexia, nausea, emesis, headache, muscle weakness, lethargy, confusion, and seizures. [wwwnc.cdc.gov]

• Convulsions

  These adverse effects can range from slight symptoms like headaches or nausea, to severe symptoms like coma and convulsions and death. [pmep.cce.cornell.edu]

  A presumptive diagnosis of heat stroke is made in the field when people have elevation of body temperature (hyperpyrexia) and marked alteration of mental status, including delirium, convulsions, and coma. [wwwnc.cdc.gov]

  […] sympathectomy Ketamine coma induction A group of Dutch researchers in their quest to develop multidisciplinary guidelines for the treatment of CRPS [18] found insufficient evidence that NSAIDS, oral opioids, morphine injection, local anesthetics, some anti¬convulsants [cme.dannemiller.com]

• Apathy

  The tongue body is slightly bulky Feeble voice, breath shortness, apathy, general weakness, poor appetite, palpitation, dizziness, abdominal pain that feel alleviated when pressed, incontinence, deep and weak pulse, the tongue is pale and bulky and tender [shen-nong.com]

  Lassitude and apathy are early signs of decreasing core temperature. Such effects impair judgement, cause bizarre behaviour and ataxia, and end in lethargy and coma between 30 and 28°C. Nerve conduction velocity decreases with lowered temperature. [ilocis.org]

• Areflexia

  Systemic Features: Proprioceptive deficits and areflexia appear in early childhood and ataxia worsens as individuals mature. Scoliosis and general weakness and wasting become prominent manifestations. [disorders.eyes.arizona.edu]

Growth delay, developmental delay, decrease pain sensation, and hyperintense lesions in the subcortical white matter on the brain MRI were reported with some of the patients, basic hematologic and biochemical workup usually does not show any abnormalities [hindawi.com]

Workup was done and he was referred to genetics. [jcnonweb.com]

If the workup is negative for symptoms of other diseases, and the ANA is negative, it is likely that the Raynaud’s is primary. [raynauds.org]

The authors also discussed pathogenesis, differential diagnosis, and recommended management and treatment. [malacards.org]

The most important way to combat excessive sweating from anxiety, however, is to make sure you receive treatment for anxiety and follow your treatment plan. [healthcentral.com]

Primary hyperhidrosis controlled with oxybutynin after unsuccessful surgical treatment. Clin Exp Dermatol. 2009 Dec. 34(8):e990-1. [Medline]. Bouman HD, Lentzer EM. The treatment of hyperhidrosis of hands and feet with constant current. [emedicine.medscape.com]

[…] or other antihidrotic treatment. [patient.info]

Such treatments work by blocking or destroying sweat glands. [jpalliativecare.com]

Prognosis Primary focal hyperhidrosis usually runs a chronic course, although a small number of people spontaneously improve after the age of about 25 years. [ 1 ] [patient.info]

Prognosis While spontaneous remission can occur in certain individuals, most experience unremitting, crippling, and irreversible pain. [cme.dannemiller.com]

The prognosis for complete healing is virtually 100%. Second-degree frostbite involves blister formation. Blisters filled with clear fluid have a better prognosis than blood-tinged blisters. [wwwnc.cdc.gov]

The causes and mechanisms of hive formation are different in each instance, as are the prognosis and approaches to treatment. [worldallergy.org]

There is no clear pattern for either future prognosis.[ return to top ] What research is being done? Unfortunately, most research to date has focused on treatment, as opposed to cause and cure. [raynauds.org]

Applicable To Excessive sweating Night sweats Secondary hyperhidrosis Code First Code First Help Certain conditions have both an underlying etiology and multiple body system manifestations due to the underlying etiology. [icd10data.com]

Etiology CISS is caused by mutations in the CRLF1 gene on chromosome 19p12 (CISS type 1). In one Australian man with no family history, the syndrome was associated with mutations in the CLCF1 gene on chromosome 11q13.3 (CISS type 2). [orpha.net]

Stüve-Wiedemann syndrome: LIFR and associated cytokines in clinical course and etiology. Orphanet J Rare Dis. 2014;9:34. [0-www-ncbi-nlm-nih-gov.brum.beds.ac.uk]

Stüve-Wiedemann syndrome: LIFR and associated cytokines in clinical course and etiology. Orphanet Journal of Rare Diseases. 2014;9:34. https://doi.org/10.1186/1750-1172-9-34 Accessed Feb. 5, 2018. Crisponi Syndrome. Orphanet. [rarediseases.org]

While traction injuries (as in whiplash) to the posterior cervical chain are the most common etiology, other causes include local trauma, chronic infection and coagulopathy. [cme.dannemiller.com]

Summary Epidemiology So far, six cases have been reported of Norwegian, Israeli and Canadian origin. [orpha.net]

Epidemiology of hyperhidrosis in 2 population-based health care databases. J Am Acad Dermatol. 2018 Feb. 78 (2):358-362. [Medline]. Adar R, Kurchin A, Zweig A, Mozes M. Palmar hyperhidrosis and its surgical treatment: a report of 100 cases. [emedicine.medscape.com]

Allen G, Galer BS, Schwartz L: Epidemiology of complex regional pain syndrome: A retrospective chart review of 134 patients. Pain. 1999;80:539-544. [cme.dannemiller.com]

Epidemiology of injuries in northern areas. Arctic Med Res 51:5–14. Mills, WJ. 1991. Cold injury. Alaska Med 35:1. Morton, WE and JWS Hearle. 1975. Physical Properties of Textile Fibres. London: Heinemann. Newburgh, LH (ed.). 1949. [ilocis.org]

CRPS is currently viewed as involving interactions between the immune system, the ANS and the Central Nervous System (Rooij, A.M., (2010) in ‘Genetic and Epidemiological Aspects of Complex Regional Pain Syndrome’, Doctoral Thesis, Leiden University (ignore [princessinthetower.org]

According to Bruehl and Chung (2006), CRPS may be understood as a biopsychosocial disorder, whereby psychological, behavioural and pathophysiological factors interact in a highly complex manner. [princessinthetower.org]

Janig W: Pathophysiology of complex regional pain syndrome. Pain. 2005 an updated review. Seattle, ISAP Press. 2005;307-316. Janig W, Baron R: Complex regional pain syndrome is a disease of the central nervous system Clin Auton Res. 2002;12:150-164. [cme.dannemiller.com]

The pathophysiology of hypothermia. In International Reviews of Ergonomics, edited by DJ Oborne. New York:Taylor & Francis. 201–218. Middaugh, J. 1992. Epidemiology of injuries in northern areas. Arctic Med Res 51:5–14. Mills, WJ. 1991. Cold injury. [ilocis.org]

For treatment, avoid further mechanical trauma to the area and prevent infection. [wwwnc.cdc.gov]

Treatment and prevention A doctor may prescribe the following to reduce or control sweating with diabetes: Clinical strength or prescription antiperspirants : Products that contain high doses of aluminum chloride can prevent sweating by blocking sweat [medicalnewstoday.com]

Shower daily, but avoid saunas and hot showers to prevent body temperatures from rising too rapidly. Keep your feet dry after a bath or shower to prevent the growth of micro-organisms. Foot odour is caused by bacterial growth. [healthxchange.sg]

It may not be possible to prevent hypohidrosis, but you can take steps to avoid serious illnesses related to overheating. Wear loose, light-colored clothing, and don’t overdress when it’s hot. [healthline.com]

It can be prevented by addition of salt to the diet (drinking beer was a suggested preventive measure in the UK in the 1920s!). Similarly, physiological mechanisms control the electrolyte composition of the body fluids via processes in the kidneys. [ilocis.org]