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Cold-Induced Sweating Syndrome Type 1

CISS


Presentation

  • Abnormal central control of respiration may be present at birth, increasing the risk of sudden death. Febrile episodes disappear after the first year of life, whereas feeding difficulties persist.[orpha.net]
  • CLINICAL CHARACTERISTICS: Crisponi syndrome, the infantile presentation of cold-induced sweating syndrome (CISS), is characterized by dysmorphic features (distinctive facies, lower facial weakness, flexion deformity at the elbows, camptodactyly with fisted[ncbi.nlm.nih.gov]
  • CRLF1 mutations also cause Crisponi syndrome (CS), which presents neonatal muscle contractions, morphological disorders and alterations in the autonomous nervous system. Case Report: A 30-year-old man sought treatment for profuse sweating.[karger.com]
  • His mother’s first cousin married father’s first cousin and they have an infant son who presented in similar ways to our patient. He has a confirmed mutation in CRLF1.[neurology.org]
Hyperthermia
  • Early in the neonatal period, CS patients develop continuous hyperthermia (unrelated to infectious agents), dyspnea, spells of apnea, and cyanosis during crying.[orpha.net]
  • , 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]
  • MANAGEMENT: Treatment of manifestations: Infants with Crisponi syndrome require close monitoring for risk of laryngospasm with respiratory distress and for bouts of hyperthermia, which may lead to seizures or sudden death.[ncbi.nlm.nih.gov]
Feeding Difficulties
  • Marked feeding difficulties require nasogastric tube feeding. Prognosis Characteristic hyperthermic crises frequently lead to death within the first months of life.[orpha.net]
  • An apnea monitor is recommended; intervention for feeding difficulties is required; bracing, occupational therapy, or plastic surgery may be necessary to correct congenital finger and hand deformities.[ncbi.nlm.nih.gov]
  • ISTITUTO DI RICERCA GENETICA E BIOMEDICA Host Institute Crisponi/Cold Induced Sweating syndrome type 1 (CS/CISS1; MIM#272430) is a rare autosomal recessive disorder characterized mainly by four distinct features; hyperthermia and feeding difficulties[telethon.it]
  • Baby was always having great feeding difficulties, not sucking, or swallowing and kept always on nasogastric tube feeding.[saudijhealthsci.org]
Asymptomatic
  • At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier.[ncbi.nlm.nih.gov]
  • The patient was asymptomatic during tilt table testing with significant orthostatic hypotension. Valsalva morphology and heart rate response to deep breathing was normal.[neurology.org]
  • N95.1 Menopausal and female climacteric states 2016 2017 2018 2019 Billable/Specific Code Female Dx Applicable To Symptoms such as flushing, sleeplessness, headache, lack of concentration, associated with natural (age-related) menopause Type 1 Excludes asymptomatic[icd10data.com]
Turkish
  • The aim of this study was to report on three new patients with CS and review the Turkish patients. We report here on three patients from two related families harboring a homozygous mutation in the cytokine receptor-like factor-1 (CRLF1) gene.[ingentaconnect.com]
  • Tüysüz B, Kasapçopur O, Yalçınkaya C, Işık Haşıloğlu Z, Knappskog PM, Boman H: Multiple small hyperintense lesions in the subcortical white matter on cranial MR images in two Turkish brothers with cold-induced sweating syndrome caused by a novel missense[karger.com]
  • Testani E....Valeriani M. 2015 3 Cold induced sweating syndrome with urinary system anomaly association. ( 24073352 ) Aljabari S....Vasylyeva T.L. 2013 4 Multiple small hyperintense lesions in the subcortical white matter on cranial MR images in two Turkish[malacards.org]
Italian
  • Summary Epidemiology Since the first description of the disease in 1996, it has been described in less than 30 patients from 13 Italian (mainly Sardinian) families.[orpha.net]
  • Italian Journal of Pediatrics 2010; 36: 57. Goldbach-Mansky R, Kastner DL. Autoinflammation: The prominent role of IL-1 in monogenic autoinflammatory diseases and implications for common illnesses. J Allergy Clin Immunol 2009; 124: 1141-1149.[dermnetnz.org]
Nasal Voice
  • 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]
  • They also had some additional abnormalities, in clud in g a high-arched palate, nasal voice, depressed nasal bridge, in ability to fully extend the ir elbows, and kyphoscoliosis.[yumpu.com]
  • Additional abnormalities include a high-arched palate, nasal voice, depressed nasal bridge, inability to fully extend the elbows and kyphoscoliosis.[genecards.org]
  • 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]
Respiratory Distress
  • MANAGEMENT: Treatment of manifestations: Infants with Crisponi syndrome require close monitoring for risk of laryngospasm with respiratory distress and for bouts of hyperthermia, which may lead to seizures or sudden death.[ncbi.nlm.nih.gov]
  • 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]
Dysphagia
  • Occasionally, dysphagia persists throughout the first decade and may be associated with no interest in food or liquids. Excessive startling disappears by the age of 2 years.[saudijhealthsci.org]
Cyanosis
  • Early in the neonatal period, CS patients develop continuous hyperthermia (unrelated to infectious agents), dyspnea, spells of apnea, and cyanosis during crying.[orpha.net]
  • 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]
  • 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]
Blepharospasm
  • […] 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 ears Puckered chin Short neck Pursed lips (see photos); may resolve with time Blepharospasm[forgottendiseases.org]
Hand Deformity
  • An apnea monitor is recommended; intervention for feeding difficulties is required; bracing, occupational therapy, or plastic surgery may be necessary to correct congenital finger and hand deformities.[ncbi.nlm.nih.gov]
Flexion Contracture
Short Neck
  • neck Pursed lips (see photos); may resolve with time Blepharospasm (sustained, forced closing of the eyelids) Flat or depressed nasal bridge Highly arched palate Long philtrum (groove below nose) Two types of Crisponi syndrome/CISS have been described[forgottendiseases.org]
Facial Spasm
  • 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]
Short Neck
  • neck Pursed lips (see photos); may resolve with time Blepharospasm (sustained, forced closing of the eyelids) Flat or depressed nasal bridge Highly arched palate Long philtrum (groove below nose) Two types of Crisponi syndrome/CISS have been described[forgottendiseases.org]
Generalized Seizure
  • But death may occur in the first few months because of hyperthermic crisis and generalized seizures.[saudijhealthsci.org]
Facial Muscle Weakness
  • The involvement of these genes in motor neuron development and bone development provides clues to some of the other signs and symptoms of cold-induced sweating syndrome , including distinctive facial features, facial muscle weakness, and skeletal abnormalities[ghr.nlm.nih.gov]

Treatment

  • The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
  • Pregnancy management : Pharmacologic treatments for cold-induced sweating should be discontinued during pregnancy, as teratogenic effects on the fetus have not been well studied and remain a possibility.[ncbi.nlm.nih.gov]
  • […] such discovery will help in better understanding the pathogenesis of the disease, in better dissecting pathways and networks where CRLF1 is involved and function, and hopefully in identifying novel therapeutic targets to achieve optimal management and treatment[telethon.it]
  • Herholz J et al. (2010) Successful treatment of cold-induced sweating in Crisponi syndrome and its possible mechanism of action. Dev Med Child Neurol 52(5): 494-497. Abstract on PubMed.[forgottendiseases.org]

Prognosis

  • Prognosis Characteristic hyperthermic crises frequently lead to death within the first months of life. The documents contained in this web site are presented for information purposes only.[orpha.net]
  • 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]

Etiology

  • Etiology Mutations in the CRLF1 gene are causative. Differential diagnosis CS belongs to a group of conditions with overlapping features, including cold-induced sweating syndromes and Stüve-Wiedemann syndrome (see these terms).[orpha.net]
  • 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]
  • General pathology Genetic and developmental anomalies cold-induced sweating syndrome Etiology CISS1 (MIM.272430) at 19p12: mutations in the CRLF1 gene ( 12509788 ) CISS2 (MIM.610313) at 11q13 .3: mutation in the CLCF1 gene (MIM.607672).[humpath.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]

Epidemiology

  • Summary Epidemiology Since the first description of the disease in 1996, it has been described in less than 30 patients from 13 Italian (mainly Sardinian) families.[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]
  • 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]
Sex distribution
Age distribution

Pathophysiology

  • The purpose of this book is to present a focused approach to the pathophysiology, diagnosis, and management of the most common autonomic disorders that may present to the clinical neurologist. Autonomic Neurology is divided into 3 sections.[books.google.de]
  • 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]

Prevention

  • Collaborative Meta-Analysis of Randomised Trials of Antiplatelet Therapy for Prevention of Death, Myocardial Infarction, and Stroke in High Risk Patients. ‎[books.google.es]
  • 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]
  • Excessive sweating—diaphoresis—affects up to 22% of patients who take antidepressants. 1 Diaphoresis may interfere with social and occupational activities, which can lead to medication discontinuation and prevent effective treatment.[mdedge.com]
  • Abnormalities of eccrine sweat formation by the secretory coil and sweat ductal cells may occur or ductal disruption or occlusion may develop, preventing delivery of sweat to the skin surface.[mhmedical.com]

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