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

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

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

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]

A–D, Facial expression at different ages, from birth to present. E, Front and back views, at the present time. Note scoliosis and limited extension of elbows. F, Subjects' hands. Note consistent camptodactyly. 5, Subject CS37, aged 14 mo. [pubmed.ncbi.nlm.nih.gov]

• 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]

• Developmental Delay

  In infancy and childhood they develop progressing kyphoscoliosis and developmental delay. [saudijhealthsci.org]

  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]

  Therefore, retinitis pigmentosa and Bohring-Optiz syndrome-like (KLHL7), Congenital contractures of the limbs and face, hypotonia, and developmental delay syndrome (NALCN), Chitayat-Hall/Schaaf-Yang syndrome (MAGEL2), and early infantile epileptic encephalopathy [onlinelibrary.wiley.com]

  Those who do survive will develop severe spinal deformities, spontaneous bone fractures, temperature instability (from dysautonomia), and some general developmental delays, though no intellectual deficits have been found. [rarediseases.org]

  Gross motor delay and developmental delay, avascular necrosis. [autoinflammatory-search.org]

• Poor Feeding

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

  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]

  feeding and poor weight gain, and noted to have an exaggerated response to noise, tactile stimuli. [jcnonweb.com]

• Poor Feeding in Infants

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

  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]

• 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]

  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]

  […] 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]

• 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]

  Its most obvious characteristic is contractions of the face that are triggered by crying or in response to being touched for feeding or changing diapers (see photo at right). [forgottendiseases.org]

  He had a round expressionless face (Fig.1a) with bilateral camptodactyly and clinodactyly with adduction of thumbs (Fig.1b) and overriding of the toes of both feet (Fig.1c). [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]

• Wide Neck

  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. [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]

  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]

• Generalized Seizure

  But death may occur in the first few months because of hyperthermic crisis and generalized seizures. [saudijhealthsci.org]

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]

• Excessive Drooling

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

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 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]

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]