cold-induced sweating syndrome 1

Cold-induced Sweating Syndrome (CISS) Type 1: A Rare Autosomal Recessive Disorder

Cold-induced sweating syndrome type 1, also known as CISS1, is a rare autosomal recessive genodermatosis caused by mutations in the CRLF1 gene [8]. This condition is characterized by several distinct features.

Key Characteristics of CISS1:

• Paradoxical Sweating: One of the hallmark symptoms of CISS1 is excessive sweating in response to cold temperatures, which can occur even when the ambient temperature is as low as 7-18 degrees Celsius [7].
• Dysmorphic Facial Features: Individuals with CISS1 often exhibit facial abnormalities, including a characteristic face shape and other dysmorphic features [9].
• Musculoskeletal Deformities: Muscular contractions resembling neonatal tetanus can occur in affected individuals, along with camptodactyly (a condition characterized by flexion deformity of the fingers) [5].
• Hyperthermia: Intermittent episodes of hyperthermia have been reported in patients with CISS1.
• Sudden Death: In severe cases, sudden death has been associated with this condition.

Age-Related Symptoms:

• During the first decade of life, children with CISS/CS develop profuse sweating of the face, arms, and chest with ambient temperatures below 18º Celsius [3].
• 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 other factors [4].

References:

[1] Aug 1, 2012 — Cold-induced sweating syndrome is characterized by problems with regulating body temperature and other abnormalities affecting many parts of the body. [3] Mar 3, 2011 — During the first decade of life, children with CISS/CS develop profuse sweating of the face, arms, and chest with ambient temperatures below 18º Celsius. [4] 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 other factors. [5] Autosomal recessive disorder with muscle contractions resembling neonatal tetanus, characteristic face, camptodactyly, hyperthermia, and sudden death. [6] Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly. [7] An autosomal recessive disorder characterized by profuse sweating induced by cool surroundings (temperatures of 7 to 18 degrees Celsius). Patients manifest, in addition to the sweating, other symptoms such as dysmorphic facial features, musculoskeletal deformities, difficulty in regulating body temperature, and sudden death. [8] Aug 30, 2013 — Introduction: Cold-induced sweating syndrome type 1 (CISS1) is a rare autosomal recessive genodermatosis caused by mutations in the CRLF1 gene. [9] by S Aljabari · Cited by 11 — The syndrome is characterized by paradoxical sweating in cold weather, dysmorphic facial features, musculoskeletal deformities, difficulty in regulating body temperature, and sudden death.

Cold-induced Sweating Syndrome Type 1 (CISS1) Signs and Symptoms

Individuals with CISS1 exhibit a range of symptoms, including:

• Heat intolerance: Many patients experience heat intolerance, making them susceptible to overheating in warm or hot weather [8].
• Excessive sweating: Affected individuals may sweat excessively, particularly on the face, as they begin experiencing episodes of profuse sweating (hyperhidrosis) and shivering involving the face within the first decade of life [1].
• Progressive thoracolumbar kyphoscoliosis: CISS1 patients often develop progressive thoracolumbar kyphoscoliosis, a condition requiring medical attention [2].
• Additional physical abnormalities: Other symptoms associated with CISS1 include kyphoscoliosis, high-arched palate, nasal voice, depressed nasal bridge, and impaired peripheral sensitivity to pain [3].

It's essential to note that infants with CISS1 may experience severe episodes of fever leading to seizures and sudden death. As they grow, individuals transition to experiencing episodes of hyperthermia, facial contractions, and camptodactyly [6][7].

Diagnostic Tests for Cold-induced Sweating Syndrome 1 (CISS1)

Cold-induced sweating syndrome 1 (CISS1) is a rare genetic disorder that can be diagnosed through various diagnostic tests. Here are some of the diagnostic tests used to identify CISS1:

• Genetic Testing: Genetic testing is the primary method for diagnosing CISS1. This involves analyzing the CRLF1 gene, which is responsible for the condition. A multigene panel that includes CLCF, CRLF1, and other genes of interest can also be used to identify the genetic cause of CISS1 [9].
• Clinical Genetic Test: Laboratorio de Genetica Clinica SL offers a clinical genetic test for conditions including CISS1 [3]. This test involves analyzing the CRLF1 gene.
• Intergen Clinical Genetic Test: Intergen also offers a clinical genetic test for CISS1, which includes testing the CRLF1 gene [8].

Other Diagnostic Tests

While not specific to CISS1, other diagnostic tests may be used to rule out or confirm the condition. These include:

• Physical Examination: A physical examination can help identify dysmorphic features associated with CISS1, such as distinctive facies, lower facial weakness, flexion deformity at the elbows, camptodactyly with fisted hands, misshapen feet, and overriding toes [10][12][13].
• Imaging Studies: Imaging studies may be used to rule out other conditions that can cause similar symptoms.

Important Note

It's essential to consult a healthcare professional for an accurate diagnosis of CISS1. They will determine the best course of action based on individual circumstances and medical history.

References:

[3] Clinical Genetic Test offered by Laboratorio de Genetica Clinica SL for conditions (2): Cold-induced sweating syndrome 1; Cold-induced sweating syndrome 2;

[8] Clinical Genetic Test offered by Intergen for conditions (1): Cold-induced sweating syndrome 1; Testing genes (1): CRLF1 (19p13.11);

[9] A multigene panel that includes CLCF, CRLF1 and other genes of interest (see Differential Diagnosis) is most likely to identify the genetic cause of the condition [9].

[10][12][13] Cold-induced sweating syndrome (CISS) and its infantile presentation, Crisponi syndrome(CS) is characterized by dysmorphic features (distinctive facies, lower facial weakness, flexion deformity at the elbows, camptodactyly with fisted hands, misshapen feet, and overriding toes); intermittent contracture of facial and oropharyngeal muscles when crying or being handled with puckering of lips and ...

Based on the available information, it appears that there are several treatment options for Cold-Induced Sweating Syndrome (CISS).

• Clonidine: This medication has been found to be effective in treating CISS. Studies have shown that clonidine can resolve cold-induced sweating within 3 days of treatment [7]. Clonidine works by reducing the release of noradrenaline at the medial hypothalamus, which helps to regulate body temperature and alleviate symptoms [2].
• Moxonidine: This medication is another option for treating CISS. It has been shown to be effective in alleviating symptoms of CISS, including excessive sweating [2].
• Amitriptyline: In some cases, clonidine may be combined with amitriptyline to treat CISS. This combination has been found to be effective in managing symptoms [8].

It's essential to note that while these medications can help alleviate symptoms of CISS, they should only be used under the guidance of a healthcare professional. A proper diagnosis and treatment plan should be developed by a qualified medical expert.

References: [1] Not applicable (initial query) [2] Context 2, Context 5 [7] Context 7 [8] Context 8

Cold-induced sweating syndrome (CISS) is a rare autosomal recessive disorder characterized by profuse sweating induced by cool surroundings [9]. To establish a differential diagnosis for CISS, it's essential to consider other conditions that may present with similar symptoms.

Conditions to Consider:

• Hyperthermia: Conditions such as malignant hyperthermia, neuroleptic malignant syndrome, and heat stroke can cause excessive sweating in response to high temperatures.
• Sweat disorders: Other rare sweat disorders like familial dysautonomia (Riley-Day syndrome) and congenital insensitivity to pain with anhidrosis may present with abnormal sweating patterns.
• Musculoskeletal conditions: Muscular dystrophies, such as Duchenne muscular dystrophy, can cause muscle contractions and spasms that may be mistaken for CISS symptoms.
• Neurological disorders: Conditions like cerebral palsy, spina bifida, and other congenital anomalies can lead to abnormal sweating patterns due to impaired thermoregulation.

Key Features to Distinguish CISS:

• Autosomal recessive inheritance pattern: CISS is inherited in an autosomal recessive manner, meaning that the condition is caused by mutations in both copies of a gene [10].
• Hyperthermia and camptodactyly: CISS is characterized by hyperthermia (elevated body temperature) and camptodactyly (bent fingers), which are not typically seen in other conditions.
• Sweating induced by cool surroundings: The unique feature of CISS is the excessive sweating response to cool temperatures, which can be a distinguishing factor from other sweat disorders.

Genetic Heterogeneity:

CISS is genetically heterogeneous, meaning that mutations in different genes can cause the condition [10]. This genetic heterogeneity makes it essential to consider multiple genetic factors when establishing a differential diagnosis for CISS.

In conclusion, while there are several conditions that may present with similar symptoms to CISS, the unique combination of hyperthermia, camptodactyly, and excessive sweating in response to cool temperatures can help distinguish CISS from other disorders. A comprehensive evaluation of clinical features, genetic testing, and family history is essential for establishing a differential diagnosis.

References: [9] - An autosomal recessive disorder characterized by profuse sweating induced by cool surroundings (temperatures of 7 to 18 degrees Celsius). Patients manifest, in addition to the sweating, hyperthermia, camptodactyly, and other anomalies. [10] - Cold-induced sweating syndrome (CISS), a rare autosomal recessive disorder, is genetically heterogeneous. Deficiency of the CRLF1 and the CLCF1 gene ...