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

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

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]

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

Some patients may present with both classical RSD and regional variant pathology. [cme.dannemiller.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]

• Weakness

  Crisponi/cold-induced sweating syndrome is an autosomal recessive disorder characterized in the neonatal period by orofacial weakness with impaired sucking and swallowing resulting in poor feeding necessitating medical intervention. [diseaseinfosearch.org]

  Patients manifest, in the neonatal period, orofacial weakness with impaired sucking and swallowing, resulting in poor feeding. [malacards.org]

  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]

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

  He had elongated face, high-arched palate, weak cry, large pinnae, short hands, tapering fingers, clinodactyly, and reduced tendon reflexes. [neurology.org]

• Hyperthermia

  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]

  She was also seen frequently in the emergency room due to hyperthermia. She was on regular follow-up in the clinic till 5 years of age and was doing well according to her mother attending school. [jcnonweb.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]

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

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

• Feeding Difficulties

  Feeding difficulties and hyperthermia often resolve after infancy in the rare surviving patients, who then develop scoliosis and sometimes psychomotor retardation. [nature.com]

  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]

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

  This trait can create feeding difficulties, and many infants must be tube fed. Infants may also drool excessively during periods of facial contractions. As an infant relaxes, the contractions begin to disappear and the drooling also eases off. [forgottendiseases.org]

• 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. During the first year, most infants have spiking fevers. [diseaseinfosearch.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. [malacards.org]

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

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

  He had elongated face, high-arched palate, weak cry, large pinnae, short hands, tapering fingers, clinodactyly, and reduced tendon reflexes. [neurology.org]

• Tachypnea

  At presentation at 1½ months of life, he had fever (103ºF), tachycardia, tachypnea, SpO2 of 98% at room air but clear chest. He was underweight (3.7 Kg) with normal length (60 cm) and head circumference (36.5cm). [indianpediatrics.net]

  Normal cognitive function. [98] Not noted [98] Not noted [98] Interstitial lung disease and pulmonary fibrosis noted on CT scan in many patients, that in some cases can be fatal. [82] [93] Emphysema [98] Tachypnea at birth [92], abnormal pulmonary-function [autoinflammatory-search.org]

• Common Cold

  “The common cold is the most frequent acute illness in the United States and throughout the industrialized world. [everydayhealth.com]

• Cyanosis

  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]

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

• High Arched Palate

  Other features include characteristic facial anomalies, such as round face, chubby cheeks, micrognathia, high-arched palate, low-set ears, and depressed nasal bridge, dental decay, camptodactyly, and progressive kyphoscoliosis (summary by {1:Hahn et al [diseaseinfosearch.org]

  Additional abnormalities include a high-arched palate, nasal voice, depressed nasal bridge, inability to fully extend the elbows and kyphoscoliosis. [malacards.org]

  Clinical description Additional abnormalities may include kyphoscoliosis, a high-arched palate, a nasal voice, depressed nasal bridge, and impaired peripheral sensitivity to pain and temperature. [orpha.net]

  He had elongated face, high-arched palate, weak cry, large pinnae, short hands, tapering fingers, clinodactyly, and reduced tendon reflexes. [neurology.org]

• Trismus

  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]

  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]

  Life expectancy is probably normal. [7] Summary The manifestations of Crispony syndrome at birth is mimicking neonatal tetanus, with frequent facial spasms and trismus. [saudijhealthsci.org]

  Her trismus and spasmodic muscle contractures improved over time. She was also seen frequently in the emergency room due to hyperthermia. [jcnonweb.com]

• Hypersalivation

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

• Hyperhidrosis

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

  […] people are not seen for treatment. [ 2 ] Hyperhidrosis occurs both in children and adults, with the average age of onset of primary hyperhidrosis being 14-25 years. [ 3 ] Causes Generalised hyperhidrosis [ 1 ] Pregnancy. [patient.info]

  T4 sympathectomy for palmar hyperhidrosis: an effective approach that simultaneously minimzes compensatory hyperhidrosis. Kaohsiung J Med Sci. 2005 Jul. 21(7):310-3. [Medline]. Heckmann M. [emedicine.medscape.com]

  ICD-10-CM Codes › R00-R99 Symptoms, signs and abnormal clinical and laboratory findings, not elsewhere classified › R50-R69 General symptoms and signs › R61- Generalized hyperhidrosis › Generalized hyperhidrosis 2016 2017 2018 2019 Billable/Specific Code [icd10data.com]

• Abnormal Sweating

  From childhood onward, the most disabling symptoms stem from impaired thermoregulation and disabling abnormal sweating, which can be treated with clonidine. [diseaseinfosearch.org]

  During development, catecholaminergic and cholinergic neurotransmission is required for the induction of secretory function, whereas cholinergic transmission becomes crucial for the maintenance of the secretory responsiveness. 2 The abnormal sweat response [neurology.org]

  In this way, abnormal sweating is another characteristic of dysautonomia. [mitoaction.org]

  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. [encyclopedia.pub]

• Dry Skin

  skin of the axillae, feet, hands, or face (avoiding the eyes) at night just before sleep and washed off in the morning. [patient.info]

  They are also constipated, lethargic, and have dry skin. [fitness.mercola.com]

• Pitted Keratolysis

  keratolysis, pneumonia, relapsing fever, sepsis, septic shock, tetanus, tuberculosis, viral infections Musculoskeletal/Orthopedic Lobstein disease, osteomyelitis, pachydermoperiostosis, reflex sympathetic osteodystrophy, rickets Neurologic Autonomic [wikidoc.org]

• Low Set Ears

  Other features include characteristic facial anomalies, such as round face, chubby cheeks, micrognathia, high-arched palate, low-set ears, and depressed nasal bridge, dental decay, camptodactyly, and progressive kyphoscoliosis (summary by {1:Hahn et al [diseaseinfosearch.org]

  Other features include characteristic facial anomalies, such as round face, chubby cheeks, micrognathia, high-arched palate, low-set ears, and depressed nasal bridge, dental decay, camptodactyly, and progressive kyphoscoliosis (summary by Hahn et al., [malacards.org]

  […] of patients) Clubfoot (in a minority of patients) Patients with Crisponi syndrome also have a characteristic facial appearance (see photos at bottom of page), as follows: Facial characteristics Rounded face in infancy Anteverted nares (upturned nose) Low-set [forgottendiseases.org]

  Infants with Crisponi syndrome have unusual facial features, including a flat nasal bridge, upturned nostrils, a long space between the nose and upper lip (philtrum), a high arched roof of the mouth (palate), a small chin (micrognathia), and low-set ears [encyclopedia.pub]

• Depressed Nasal Bridge

  Other features include characteristic facial anomalies, such as round face, chubby cheeks, micrognathia, high-arched palate, low-set ears, and depressed nasal bridge, dental decay, camptodactyly, and progressive kyphoscoliosis (summary by {1:Hahn et al [diseaseinfosearch.org]

  Additional abnormalities include a high-arched palate, nasal voice, depressed nasal bridge, inability to fully extend the elbows and kyphoscoliosis. [malacards.org]

  Clinical description Additional abnormalities may include kyphoscoliosis, a high-arched palate, a nasal voice, depressed nasal bridge, and impaired peripheral sensitivity to pain and temperature. [orpha.net]

  Additional abnormalities include a high-arched palate, nasal voice, depressed nasal bridge, inability to fully extend the elbows and kyphoscoliosis. Sequence similarities Belongs to the IL-6 superfamily. Cellular localization Secreted. [abcam.com]

• Round Face

  Other features include characteristic facial anomalies, such as round face, chubby cheeks, micrognathia, high-arched palate, low-set ears, and depressed nasal bridge, dental decay, camptodactyly, and progressive kyphoscoliosis (summary by {1:Hahn et al [diseaseinfosearch.org]

  Other features include characteristic facial anomalies, such as round face, chubby cheeks, micrognathia, high-arched palate, low-set ears, and depressed nasal bridge, dental decay, camptodactyly, and progressive kyphoscoliosis (summary by Hahn et al., [malacards.org]

  […] than half of patients) Cyanosis Seizures (in a minority of patients) Clubfoot (in a minority of patients) Patients with Crisponi syndrome also have a characteristic facial appearance (see photos at bottom of page), as follows: Facial characteristics Rounded [forgottendiseases.org]

  A round face, broad nose with anteverted nostrils, small mouth, micrognathia and bilateral camptodactyly are typical [5]. It is usually lethal in the first few months of life. [indianpediatrics.net]

  Figure 1: (a) Facial features of patient 1 during sleep (a round face, chubby cheeks, and a broad nose with anteverted nostrils) (b) Camptodactyly and facial features of patient 2 during sleep Click here to view Figure 3: (a) Typical facial expressions [jcnonweb.com]

• Broad Nasal Bridge

  Patient head was normocephalic but with dysmorphic features (hypertelorism, short wide neck, large pinna, broad nasal bridge, and tented palate) (Figure 1(a)), and he had opacification of both corneas. [hindawi.com]

• Opisthotonus

  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]

  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]

  Crying was accompanied by spasmodic contractions of the face, jaw, and neck muscles [Figure 3]a, in addition to noted opisthotonus. She was immediately transferred to the neonatal intensive care unit (NICU) for further evaluation. [jcnonweb.com]

• Focal Neurological Deficit

  Musculoskeletal exam revealed scoliosis, contracture around both elbows with limitation of movement, and bilateral campylodactyly (Figure 1(b)) and normal neurological exam was revealed with no focal neurological deficit. [hindawi.com]

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]

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]

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

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

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]

If diagnosed early, the prognosis is very good. Begin treatment of the underlying cause, if there is one. If not, then focus on the treatment of the RSD/CRPS process. [princessinthetower.org]

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

Warner, Roger Bosse, Aurélie Tormo, Gaétan Mayer, Mukut Sharma, Przemyslaw Sapieha, Catherine Martel & Jean-François Gauchat Scientific Reports (2018) Stüve-Wiedemann syndrome: LIFR and associated cytokines in clinical course and etiology Dawn Mikelonis [nature.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]

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]