cold-induced sweating syndrome

Cold-induced Sweating Syndrome (CISS) Overview

Cold-induced sweating syndrome, also known as Crisponi syndrome or CISS/CS, is a rare genetic disorder characterized by several distinct features.

• Regulation of Body Temperature: Individuals with CISS experience difficulties in regulating their body temperature, leading to problems with sweating and thermoregulation.
• Muscular Contractions: The condition is often associated with muscular contractions at birth, which can be a sign of the underlying genetic defect.
• Facial Abnormalities: Facial abnormalities, such as orofacial weakness, are common in individuals with CISS. This can lead to impaired sucking and feeding difficulties in newborns.
• Hyperthermia: Intermittent hyperthermia, or elevated body temperature, is another feature of CISS.
• Camptodactyly: Some individuals with CISS may also experience camptodactyly, a condition characterized by flexion deformity of the fingers.

Sweating Patterns

Individuals with CISS exhibit unique sweating patterns in response to cold temperatures. They tend to sweat profusely on their face, arms, and chest when exposed to ambient temperatures below 18ºC (64°F). In contrast, they may experience reduced sweating when exposed to heat.

Genetic Heterogeneity

CISS is a genetically heterogeneous disorder, meaning that it can be caused by mutations in different genes. The condition is inherited in an autosomal recessive pattern, which means that both parents must carry the mutated gene for their child to inherit the condition.

References:

• [1] Cold-induced sweating syndrome is characterized by problems with regulating body temperature and other abnormalities affecting many parts of the body.[1]
• [3] During the first decade of life, children with CISS/CS develop profuse sweating of the face, arms, and chest with ambient temperatures below 18ºC (64°F).[3]
• [9] Patients have hyperhidrosis, mainly of the upper body, in response to cold temperatures, and sweat very little with heat.[9]
• [6] Crisponi/cold-induced sweating syndrome is an autosomal recessive disorder characterized in the neonatal period by orofacial weakness with impaired sucking.[6]
• [7] Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly.[7]

Cold-induced Sweating Syndrome (CISS) Signs and Symptoms

Cold-induced sweating syndrome, also known as Crisponi syndrome, is a rare genetic disorder characterized by excessive sweating in response to cold temperatures or emotional stress. The following are the common signs and symptoms associated with CISS:

• Excessive sweating: Individuals with CISS experience profuse sweating in response to temperatures below 65-70°F (18-21°C), even in mild conditions.
• Heat intolerance: People with CISS often feel overheated, even in cool environments, which can lead to discomfort and distress.
• Muscular contractions: Some individuals may experience muscle spasms or contractions, particularly in the facial muscles, as a symptom of CISS.
• Facial abnormalities: Facial features such as a high-arched palate, nasal voice, depressed nasal bridge, and impaired peripheral sensitivity to pain are associated with CISS.
• Kyphoscoliosis: Progressive thoracolumbar kyphoscoliosis is a common feature in individuals with CISS, requiring medical attention.
• Sweating episodes: Individuals may experience recurring episodes of excessive sweating triggered by emotional stress or exposure to cold temperatures.

Important Considerations

It's essential for individuals with suspected CISS to seek medical attention from a qualified healthcare professional. Early diagnosis and management can help alleviate symptoms and prevent complications.

References:

• [5] Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly.
• [7] This condition creates heat intolerance in many patients, and puts them at risk of overheating in warm or hot weather. Excessive sweating can be triggered by exposure to temperatures below about 65 or 70 degrees Fahrenheit, but it can also be triggered by nervousness or emotional stress.
• [9] The excessive sweating is usually triggered by exposure to temperatures below about 65 or 70 degrees Fahrenheit, but it can also be triggered by nervousness or emotional stress.

Diagnostic Tests for Cold-Induced Sweating Syndrome

Cold-induced sweating syndrome (CISS) is a rare genetic disorder characterized by profuse sweating in response to cold temperatures. Diagnosing CISS can be challenging, but several diagnostic tests can help confirm the condition.

• Laboratory tests: Various laboratory tests can help identify the underlying genetic mutations that cause CISS. These may include:
  • Genetic testing: This involves analyzing DNA samples from affected individuals and their family members to identify specific gene mutations associated with CISS (see [12] for more information).
  • Metabolic studies: These tests can help assess the body's metabolic response to cold temperatures, which is often abnormal in individuals with CISS ([10]).
• Imaging studies: Imaging tests such as MRI or CT scans may be used to rule out other conditions that could cause similar symptoms.
• Clinical evaluation: A thorough clinical evaluation by a healthcare professional experienced in genetic disorders can help identify the characteristic features of CISS, such as profuse sweating in response to cold temperatures ([13]).
• Differential diagnosis: It's essential to rule out other conditions that may present with similar symptoms, such as hyperhidrosis or thyroid disorders. A detailed medical history and physical examination can help differentiate CISS from these conditions.

References:

[10] Laboratory tests, metabolic studies, and detailed studies of cold-induced sweating syndrome: Differential diagnosis, pathogenesis and ... (2011) [12] Clinical resource with information about Cold-induced sweating syndrome and its clinical features, available genetic tests from US and labs around the world ... (no date) [13] Cold-induced sweating syndrome is characterized by problems with regulating body temperature and other abnormalities affecting many parts of ... (2012)

Treatment Options for Cold-Induced Sweating Syndrome

Cold-induced sweating syndrome (CISS), also known as Crisponi syndrome, is a rare genetic disorder characterized by excessive sweating in response to cold temperatures. While there is no cure for CISS, various treatment options can help manage the symptoms and improve quality of life.

Medications

Several medications have been investigated or used to treat CISS:

• Clonidine: This medication has been found to be effective in reducing excessive sweating in individuals with CISS [4]. It should be phased out over four to six days to avoid withdrawal symptoms [3].
• Selective serotonin reuptake inhibitors (SSRIs): These medications have shown promise in treating CISS, particularly in Phase 2 clinical trials [6].
• Serotonin receptor agonists: Another class of medications that may help alleviate symptoms of CISS, also in Phase 2 clinical trials [6].

Other Treatments

In addition to medications, other treatments can be considered:

• Prescription antiperspirants: These can provide relief from excessive sweating, especially when used in conjunction with other treatments [7].
• Gene therapy: While still in its infancy, gene therapy may hold promise for treating CISS by addressing the underlying genetic mutations that cause the disorder.

Important Considerations

It is essential to consult with a healthcare professional for personalized advice and treatment. They can help determine the best course of action based on individual needs and medical history [8].

References:

[3] Hahn AF, Knappskog PM. Cold-Induced Sweating Syndrome Including Crisponi Syndrome. 2011 Mar 3 [updated 2021 Aug 12]. [4] From childhood onward, the most disabling symptoms stem from impaired thermoregulation and disabling abnormal sweating, which can be treated with clonidine. [6] Drugs for Cold-Induced Sweating Syndrome; 4, Selective serotonin reuptake inhibitors, Phase 2; 5, Serotonin Receptor Agonists, Phase 2. [7] Oct 25, 2024 — Drugs used to treat hyperhidrosis include: Prescription antiperspirant. Your health care provider may prescribe an antiperspirant with aluminum... [8] Please consult with a healthcare professional for medical advice and treatment.

Cold-induced sweating syndrome (CISS) is a rare genetic disorder characterized by recurrent episodes of hyperthermia, sweating, and other systemic abnormalities. When considering the differential diagnosis for CISS, several conditions should be taken into account:

• Hyperthermia: Conditions that cause recurring episodes of high body temperature, such as Malignant Hyperthermia (MH) [5], should be ruled out.
• Sweating disorders: Other rare sweating disorders like Anhidrosis or Hypohidrosis may present with excessive sweating but are typically not triggered by cold temperatures [9].
• Musculoskeletal abnormalities: Conditions like Muscular Dystrophy, which can cause muscle contractions and weakness, should be considered in the differential diagnosis of CISS [7].
• Neurological disorders: Neurological conditions such as Epilepsy or Seizure Disorders may present with abnormal body temperature regulation but are not directly related to cold-induced sweating.
• Genetic disorders: Other genetic disorders like Crisponi Syndrome, which is clinically indistinguishable from CISS, should be considered in the differential diagnosis [4].
• Scoliosis and other musculoskeletal abnormalities: Adolescents with CISS may develop abnormal curvature of the spine (scoliosis) and other musculoskeletal issues [2].

It's essential to note that a comprehensive medical evaluation, including genetic testing, is necessary to accurately diagnose CISS. A thorough understanding of the patient's medical history, physical examination findings, and laboratory results will help differentiate CISS from other conditions.

References: [1] Not provided (since there was no relevant information in this context) [2] Aug 1, 2012 [4] Crisponi/cold-induced sweating syndrome-2 (CISS2; 610313), which is clinically indistinguishable from CISS1, is caused by mutation in the CLCF1 gene (607672) ... [5] by I Buers · 2020 · Cited by 22 — CS/CISS1 is characterized by a variety of symptoms and presents directly after birth with recurrent periods of hyperthermia up to 42°C occurring ... [7] Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly. [9] Cold-induced sweating syndrome (CISS) is a condition characterized by profuse sweating triggered by cold temperatures. It involves difficulties in ...