cold-induced sweating syndrome 3

Cold-induced sweating syndrome 3 (CISS3) is a rare genetic disorder characterized by several distinct features.

• Genetic cause: CISS3 is caused by a homozygous mutation in the KLHL7 gene, which is located on chromosome 7p15 [5].
• Clinical features: The syndrome presents with a range of clinical features, including:
  • Profuse sweating induced by cold ambient temperature
  • Dysmorphic facial features
  • Musculoskeletal deformities
  • Difficulty in feeding and respiratory problems in infancy [2]
  • Hyperthermia (elevated body temperature) [4]
• Age of presentation: CISS3 can present to the clinician at any age, but it is often diagnosed in infancy as Crisponi syndrome or from age three onwards [1][2].
• Autosomal recessive inheritance: CISS3 is inherited in an autosomal recessive pattern, meaning that a person must inherit two copies of the mutated gene (one from each parent) to develop the condition [4].

Overall, cold-induced sweating syndrome 3 is a rare and complex genetic disorder with distinct clinical features.

Characteristics of Cold-Induced Sweating Syndrome 3

Cold-induced sweating syndrome 3 (CISS3) is a rare genetic disorder characterized by several distinct signs and symptoms. Some of the key features of CISS3 include:

• Dysmorphic facial features: Individuals with CISS3 often have distinctive facial features, such as lower facial weakness, flexion deformity at the elbows, camptodactyly (bent fingers) with fisted hands, misshapen feet, and overriding toes [12][15].
• Intermittent contracture of facial and oropharyngeal muscles: When crying or being handled, individuals with CISS3 may experience intermittent contracture of facial and oropharyngeal muscles, accompanied by puckering of lips [12][15].
• Profuse sweating: Cold-induced sweating syndrome 3 is characterized by profuse sweating (hyperhidrosis) involving the chest, face, arms, and trunk, triggered by cold ambient temperatures [5][6].
• Shivering: Affected individuals may also experience shivering episodes, particularly in response to cold temperatures.
• Musculoskeletal deformities: CISS3 is associated with musculoskeletal deformities, including flexion deformity at the elbows and camptodactyly.

Additional Features

Research suggests that mutations in the CRLF1 gene underlie some of the other features of CISS3, including:

• Distinctive facial features: Individuals with CISS3 may have distinctive facial features, such as lower facial weakness.
• Facial muscle weakness: Affected individuals may experience facial muscle weakness.
• Skeletal abnormalities: CISS3 is associated with skeletal abnormalities, including misshapen feet and overriding toes.

Genetic Basis

Cold-induced sweating syndrome 3 is caused by mutations in the CRLF1 gene. These genetic mutations can be inherited from parents or occur randomly [11].

Based on the provided context, it appears that diagnostic tests for Cold-Induced Sweating Syndrome (CISS) are not explicitly listed in the search results. However, I can provide some general information about diagnostic tests related to CISS.

Diagnostic Tests

The diagnostic tests for CISS may include:

• Sweat test: This test measures the amount of chloride (a component of salt) in the sweat [8]. It is a painless and non-invasive test that can help identify individuals with CISS.
• Genetic testing: Genetic testing, such as next-generation sequencing, can be used to identify pathogenic variants associated with CISS [7].
• Autonomic Reflex Screen Test (ARST): The ARST may be abnormal in individuals with CISS Type 1 [3].

It's essential to note that these diagnostic tests are not exhaustive and may vary depending on the individual case. A healthcare professional should be consulted for a comprehensive evaluation and diagnosis of CISS.

References:

[3] Abnormality of the autonomic nervous system (HP:0000707) [7] Clinical Genetic Test offered by Intergen for conditions (1): PERCHING syndrome; Testing genes (1): KLHL7 (7p15.3); [8] The sweat test measures the amount of chloride (a component of salt) in the sweat. There are no needles involved in this test. · Sweat testing is painless and ...

Treatment Options for Cold-Induced Sweating Syndrome

Cold-induced sweating syndrome (CISS) can be effectively managed with various drug treatments. According to the available information, options for treating CISS include:

• Clonidine: This medication has been shown to be effective in resolving cold-induced sweating within 3 days of treatment [7]. Clonidine works by reducing the release of noradrenaline at the medial hypothalamus, which helps regulate body temperature.
• Moxonidine: Another option for treating CISS is moxonidine, which also reduces the release of noradrenaline and has been found to be effective in alleviating symptoms [2].
• Amitriptyline: In some cases, clonidine may be combined with amitriptyline to enhance its effectiveness.
• Selective serotonin reuptake inhibitors (SSRIs): SSRIs are another class of medications that have been investigated for the treatment of CISS. They work by increasing the levels of serotonin in the brain, which can help regulate body temperature and other symptoms.
• Serotonin receptor agonists: These medications also target the serotonin system and have shown promise in treating CISS.

It's essential to note that these treatments should be evaluated and monitored by a healthcare professional to determine the best course of action for each individual case.

Differential Diagnosis of Cold-Induced Sweating Syndrome 3 (CISS3)

Cold-induced sweating syndrome 3 (CISS3), also known as Crisponi/cold-induced sweating syndrome 3, is a rare genetic disorder characterized by problems with regulating body temperature and other abnormalities affecting multiple parts of the body. When considering the differential diagnosis for CISS3, several conditions should be taken into account.

• Stüve-Wiedemann dyschondrosteosis: This condition is often considered in the differential diagnosis of CISS3 due to its similar clinical presentation. Stüve-Wiedemann dyschondrosteosis is characterized by short stature, skeletal abnormalities, and other systemic features.
• Other genetic disorders: Various other genetic disorders can present with similar symptoms to CISS3, such as Klippel-Feil syndrome, Sotos syndrome, and others. A comprehensive evaluation of the patient's medical history, physical examination, and laboratory findings is essential for accurate diagnosis.

Key Features to Consider

When differentiating CISS3 from other conditions, the following features should be taken into account:

• Skeletal abnormalities: Both CISS3 and Stüve-Wiedemann dyschondrosteosis are characterized by skeletal abnormalities, including short stature, scoliosis, and kyphosis.
• Systemic features: CISS3 is associated with systemic features such as hyperthermia, camptodactyly, and orofacial weakness. Stüve-Wiedemann dyschondrosteosis also presents with systemic features like skeletal abnormalities and short stature.

Diagnostic Evaluation

A comprehensive diagnostic evaluation is essential for accurate diagnosis of CISS3. This includes:

• Physical examination: A thorough physical examination to assess the patient's overall health, including their height, weight, and any visible signs of skeletal or other abnormalities.
• Laboratory findings: Laboratory tests such as genetic analysis, blood work, and imaging studies (e.g., X-rays, CT scans) may be necessary to confirm the diagnosis.

References

1. [3] Aug 1, 2012 — Adolescents with cold-induced sweating syndrome typically develop abnormal side-to-side and front-to-back curvature of the spine (scoliosis and kyphosis, often ...
2. [8] Any cold-induced sweating syndrome in which the cause of the disease is a mutation in the KLHL7 gene.
3. [9] Cold-induced sweating syndrome (CISS) and Crisponi syndrome (CS) are characterized by dysmorphic features such as distinctive facies, lower facial weakness, ...
4. [10] Crisponi/cold-induced sweating syndrome is an autosomal recessive disorder characterized in the neonatal period by orofacial weakness with impaired sucking ...